A Case of Type 2 Hereditary Angioedema With SERPING1 Mutation.

Hereditary angioedema is a disease of congenital deficiency or functional defect in the C1 esterase inhibitor (C1-INH) consequent to mutation in the SERPING1 gene, which encodes C1-INH. This disease manifests as recurrent, non-pitting, non-pruritic subcutaneous, or submucosal edema as well as an erythematous rash in some cases. These symptoms result from the uncontrolled localized production of bradykinin. The most commonly affected sites are the extremities, face, gastrointestinal tract, and respiratory system. When the respiratory system is affected by hereditary angioedema, swelling of the airway can restrict breathing and lead to life-threatening obstruction. Herein, we report a case of a 24-year-old woman with type 2 hereditary angioedema who presented with recurrent episodic abdominal pain and swelling of the extremities. She had no family history of angioedema. Although her C4 level was markedly decreased (3.40 mg/dL; normal range: 10-40 mg/dL), she presented with a very high C1-INH level (81.0 mg/dL; normal range: 21.0-39.0 mg/dL) and abnormally low C1-INH activity (less than 25%; normal range: 70%-130%). The SERPING1 gene mutation was confirmed in this patient. She was treated with prophylactic tranexamic acid, as needed, and subsequently reported fewer and less severe episodes. To our knowledge, this is the first reported case of type 2 hereditary angioedema in Korea that was consequent to SERPING1 mutation and involved a significantly elevated level of C1-INH as well as a low level of C1-INH activity.

    Hereditary angioedema
    DIAGNOSIS

 is a disease of

    congenital
    GENETICS

    deficiency or functional defect in the C1 esterase inhibitor (C1-INH)
    BIOCHEMICAL

 consequent to

    mutation in the SERPING1 gene, which encodes C1-INH
    GENETICS

. This disease manifests as

    recurrent, non-pitting, non-pruritic subcutaneous, or submucosal edema
    SYMPTOMS

 as well as an

    erythematous rash
    SYMPTOMS

 in some cases. These symptoms result from the

    uncontrolled localized production of bradykinin
    BIOCHEMICAL

. The most commonly affected sites are

    the extremities, face, gastrointestinal tract
    SYMPTOMS

,

    and respiratory system
    SYMPTOMS

. When the

    respiratory system
    SYMPTOMS

 is affected by

    hereditary angioedema
    DIAGNOSIS

,

    swelling of the airway
    SYMPTOMS

 can

    restrict breathing
    SYMPTOMS

 and lead to

    life-threatening obstruction
    SYMPTOMS

. Herein, we report a case of a

    24-year-old
    AGE

    woman
    GENDER

 with

    type 2 hereditary angioedema
    DIAGNOSIS

 who presented with

    recurrent episodic abdominal pain
    SYMPTOMS

 and

    swelling of the extremities
    SYMPTOMS

.

    She
    GENDER

 had

    no family history of angioedema
    NEG_FINDINGS

. Although

    her
    GENDER

    C4 level was markedly decreased (3.40 mg/dL; normal range: 10-40 mg/dL)
    BIOCHEMICAL

,

    she
    GENDER

 presented with a

    very high C1-INH level (81.0 mg/dL; normal range: 21.0-39.0 mg/dL)
    BIOCHEMICAL

 and

    abnormally low C1-INH activity (less than 25%; normal range: 70%-130%)
    BIOCHEMICAL

. The

    SERPING1 gene mutation
    GENETICS

 was confirmed in this patient.

    She
    GENDER

 was treated with

    prophylactic tranexamic acid
    MEDICATION

, as needed, and subsequently reported

    fewer and less severe episodes
    SYMPTOMS

. To our knowledge, this is the first reported case of

    type 2 hereditary angioedema
    DIAGNOSIS

 in

    Korea
    ETHNICITY

 that was consequent to

    SERPING1 mutation
    GENETICS

 and involved a

    significantly elevated level of C1-INH as well as a low level of C1-INH activity
    BIOCHEMICAL

.

Hereditary angioedema
hereditary angioedema
type 2 hereditary angioedema
type 2 hereditary angioedema


An adolescent with acute abdominal pain and bowel wall thickening.

: A 15-year-old girl was admitted with acute crampy abdominal pain and repeated vomiting over the preceding 2 hours; no fever, diarrhoea or abdominal trauma was reported. She had started oestrogen-progestin contraception 3 months ago. She had sought medical advice twice in the previous weeks for self-limiting episodes of right hand swelling, without urticaria. On examination, she was unwell and in pain, with severe tenderness in the right lower quadrant, without guarding or rebound tenderness. Bowel sounds were diminished. Blood tests were unremarkable. Two hours after admission, an abdominal ultrasound scanning showed an impressive wall thickening (>1 cm) of the terminal ileum, caecum and ascending colon (figure 1). Abundant free intraperitoneal fluids in the pelvis and in the hepatorenal recess were present.edpract;103/1/22/EDPRACT2016311823F1F1EDPRACT2016311823F1Figure 1Marked caecal wall thickening evidenced at the ultrasound scanning.

Which of the following is the most likely diagnosis in this patient? Ileocolic intussusceptionGastrointestinal manifestation of Henoch-Schönlein purpuraAbdominal attack of hereditary angioedema (HAE)Acute pancreatitisWhich of the following blood tests may help to confirm the diagnosis? Erythrocyte sedimentation rateC4Serum amylase: 36 IU/LC1-inhibitorHow should this patient be evaluated and treated?Answers are on page ▪▪▪.

: A

    15-year-old
    AGE

    girl
    GENDER

 was admitted with

    acute crampy abdominal pain
    SYMPTOMS

 and

    repeated vomiting over the preceding 2 hours
    SYMPTOMS

;

    no fever, diarrhoea or abdominal trauma
    NEG_FINDINGS

 was reported.

    She
    GENDER

 had

    started oestrogen-progestin contraception 3 months ago
    MEDICATION

.

    She
    GENDER

 had sought medical advice twice in the previous weeks for

    self-limiting episodes of right hand swelling
    SYMPTOMS

,

    without urticaria
    NEG_FINDINGS

. On examination,

    she
    GENDER

 was

    unwell
    SYMPTOMS

 and

    in pain
    SYMPTOMS

, with

    severe tenderness in the right lower quadrant
    SYMPTOMS

,

    without guarding or rebound tenderness
    NEG_FINDINGS

.

    Bowel sounds were diminished
    NEG_FINDINGS

.

    Blood tests were unremarkable
    NEG_FINDINGS

. Two hours after admission, an

    abdominal ultrasound scanning
    PARACLINICAL

 showed an

    impressive wall thickening (>1 cm) of the terminal ileum, caecum and ascending colon
    SYMPTOMS

 (figure 1).

    Abundant free intraperitoneal fluids in the pelvis and in the hepatorenal recess
    MICROSCOPIC

 were present.edpract;103/1/22/EDPRACT2016311823F1F1EDPRACT2016311823F1Figure 1Marked caecal wall thickening evidenced at the

    ultrasound scanning
    PARACLINICAL

.

no fever, diarrhoea or abdominal trauma
without urticaria
without guarding or rebound tenderness
Bowel sounds were diminished
Blood tests were unremarkable


Hereditary Angioedema with Recurrent Abdominal Pain in a Patient with a Novel Mutation.

We describe a patient with hereditary angioedema type I. The patient had experienced recurrent abdominal pain around the time of her menstrual period for 13 years. A laboratory examination showed reduced functional and antigenic levels of C4 and C1 inhibitor (C1-INH). To establish a diagnosis, we carried out a DNA analysis of the patient's C1-INH gene. We determined that the patient was heterozygous for a single base pair transposition of T to C at nucleotide 4429 in exon 4, which had not been reported in the literature. As the patient had no family history of hereditary diseases, it was considered to be a de novo mutation.

We describe a patient with hereditary angioedema type I. The patient had experienced

    recurrent abdominal pain around the time of her menstrual period for 13 years
    SYMPTOMS

. A

    laboratory examination
    PARACLINICAL

 showed

    reduced functional and antigenic levels of C4 and C1 inhibitor (C1-INH)
    BIOCHEMICAL

. To establish a diagnosis, we carried out a

    DNA analysis of the patient's C1-INH gene
    PARACLINICAL

. We determined that the patient was

    heterozygous for a single base pair transposition of T to C at nucleotide 4429 in exon 4
    GENETICS

, which had not been reported in the literature. As the patient had

    no family history of hereditary diseases
    FAMILY

, it was considered to be a

    de novo mutation
    GENETICS

.


Angio-oedema associated with colistin.

A 50-year-old woman known to have type 1 diabetes mellitus presented with a rare case of angio-oedema associated with colistin use. The angio-oedema was temporally associated with the use and discontinuation of colistin with the reasonable exclusion of important differential diagnoses. Pseudoallergy may be a probable underlying mechanism. However, we cannot exclude the possibility of hereditary angio-oedema type 2 or 3, or that her concomitant medications (particularly enalapril) and her renal impairment contributed to the risk and severity of her angio-oedema.

A

    50-year-old
    AGE

    woman
    GENDER

 known to have

    type 1 diabetes mellitus
    DIAGNOSIS

 presented with a rare case of

    angio-oedema
    SYMPTOMS

 associated with

    colistin use
    MEDICATION

. The

    angio-oedema
    SYMPTOMS

 was temporally associated with the use and

    discontinuation of colistin
    MEDICATION

 with the reasonable exclusion of important

    differential diagnoses
    PARACLINICAL

.

    Pseudoallergy
    SYMPTOMS

 may be a probable underlying mechanism. However, we cannot exclude the possibility of

    hereditary angio-oedema type 2 or 3
    DIAGNOSIS

, or that

    her
    GENDER

    concomitant medications (particularly enalapril)
    MEDICATION

 and

    her
    GENDER

    renal impairment
    SYMPTOMS

 contributed to the risk and severity of her

    angio-oedema
    SYMPTOMS

.

type 1 diabetes mellitus
hereditary angio-oedema type 2 or 3

angio-oedema
angio-oedema
Pseudoallergy
renal impairment
angio-oedema


Hereditary angioedema: 44 years of diagnostic delay.

We report a 64-year-old man who suffered from recurrent visible swelling attacks since the age of 20 as well as episodes with severe upper airway edema, resulting in 4 emergency tracheotomies. Eventually after 44 years he was diagnosed with hereditary angioedema (HAE) type II. The aims of this report is to emphasize the importance of awareness concerning HAE, which does not respond to traditional anti-allergic therapy, and remind physicians to test for functional C1-INH deficiency.

We report a

    64-year-old
    AGE

    man
    GENDER

 who suffered from

    recurrent visible swelling attacks
    SYMPTOMS

 since the

    age of 20
    AGE

 as well as

    episodes with severe upper airway edema
    SYMPTOMS

, resulting in

    4 emergency tracheotomies
    MEDICATION

. Eventually after

    44 years
    AGE

    he
    GENDER

 was diagnosed with

    hereditary angioedema (HAE) type II
    DIAGNOSIS

. The aims of this report is to emphasize the importance of awareness concerning

    HAE
    DIAGNOSIS

, which

    does not respond to traditional anti-allergic therapy
    NEG_FINDINGS

, and remind physicians to test for

    functional C1-INH deficiency
    BIOCHEMICAL

.

recurrent visible swelling attacks
episodes with severe upper airway edema


Angiotensin-converting enzyme inhibitor-associated angioedema treated with c1-esterase inhibitor: A case report and review of the literature.

A 59-year old man currently on >5 years of angiotensin-converting enzyme inhibitor (ACEI) therapy presented to the emergency department with angioedema of the tongue and difficulty swallowing. After receiving conventional therapy of antihistamine, steroids, and epinephrine, the patient's condition continued to deteriorate, with imminent intubation. The patient was treated with a C1-esterase inhibitor (C1-INH) and experienced rapid resolution of symptoms, which avoided airway complications.

Although no therapy has been approved for the treatment of ACEI-associated angioedema (AAE), the conventional therapy (antihistamine, steroids, and epinephrine) often proves ineffective in this bradykinin-mediated angioedema. There are drugs approved and used for hereditary angioedema that may be effective in the acute phase of ACEI-AAE that may prevent the need for further interventions, such as intubation and tracheotomy. These drugs include icatibant, ecallantide, fresh frozen plasma, and C1-INH.

The literature and clinical evidence indicate C1-INH can be effectively used in the treatment of ACEI-AAE to halt the progression of the condition, prevent airway compromise and the need for intervention, and lead to rapid resolution of symptoms.

A

    59-year old
    AGE

    man
    GENDER

    currently on >5 years of angiotensin-converting enzyme inhibitor (ACEI) therapy
    MEDICATION

 presented to the emergency department with

    angioedema of the tongue
    SYMPTOMS

 and

    difficulty swallowing
    SYMPTOMS

. After receiving

    conventional therapy of antihistamine, steroids, and epinephrine
    MEDICATION

, the patient's condition

    continued to deteriorate
    SYMPTOMS

, with

    imminent intubation
    MEDICATION

. The patient was

    treated with a C1-esterase inhibitor (C1-INH)
    MEDICATION

 and experienced

    rapid resolution of symptoms
    SYMPTOMS

, which

    avoided airway complications
    NEG_FINDINGS

.

Although no therapy has been approved for the treatment of

    ACEI-associated angioedema (AAE)
    DIAGNOSIS

, the

    conventional therapy (antihistamine, steroids, and epinephrine)
    NEG_FINDINGS

 often

    proves ineffective in
    NEG_FINDINGS

 this

    bradykinin-mediated angioedema
    NEG_FINDINGS

. There are drugs approved and used for

    hereditary angioedema
    DIAGNOSIS

 that may be effective in the acute phase of

    ACEI-AAE
    DIAGNOSIS

 that may prevent the need for

    further interventions, such as intubation and tracheotomy
    MEDICATION

. These drugs include

    icatibant, ecallantide, fresh frozen plasma, and C1-INH.
    MEDICATION

The literature and clinical evidence indicate

    C1-INH
    MEDICATION

 can be effectively used in the treatment of

    ACEI-AAE
    DIAGNOSIS

 to halt the progression of the condition,

    prevent airway compromise
    SYMPTOMS

 and the

    need for intervention
    MEDICATION

, and lead to

    rapid resolution of symptoms
    SYMPTOMS

.

angioedema of the tongue
difficulty swallowing
continued to deteriorate
rapid resolution of symptoms
prevent airway compromise
rapid resolution of symptoms

ACEI-associated angioedema (AAE)
hereditary angioedema
ACEI-AAE
ACEI-AAE


Hereditary angioedema: death after a dental extraction.

Hereditary angioedema (HAE) is a group of three uncommon and potentially fatal conditions, each of which is transmitted as a somatic dominant trait. A recognized trigger to attacks is dental treatment, with tooth extraction frequently reported in the published work. The clinical symptoms may not manifest for many hours or even days after the procedure. We describe a recent case in Australia in which death resulted from HAE following dental extraction, and we discuss its post-mortem presentation and diagnosis, highlighting the need for dental practitioners to be aware of this condition.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a group of three uncommon and potentially fatal conditions, each of which is

    transmitted as a somatic dominant trait
    GENETICS

. A recognized trigger to attacks is

    dental treatment
    MEDICATION

, with

    tooth extraction
    MEDICATION

 frequently reported in the published work. The clinical symptoms may not manifest for many hours or even days after the procedure. We describe a recent case in

    Australia
    ETHNICITY

 in which

    death
    SYMPTOMS

 resulted from

    HAE
    DIAGNOSIS

 following

    dental extraction
    MEDICATION

, and we discuss its

    post-mortem
    PARACLINICAL

 presentation and diagnosis, highlighting the need for

    dental practitioners
    PARACLINICAL

 to be aware of this condition.

dental treatment
tooth extraction
dental extraction


A 47-year-old man with tongue swelling.

Intermittent tongue angioedema can be the initial presentation of several disorders including angiotensin-converting-enzyme inhibitor induced angioedema and hereditary angioedema. Persistent angioedema on the other hand, can be associated with amyloidosis, tumors, thyroid disorders and acromegaly. We present a case of intermittent episodes of tongue swelling progressing to macroglossia.

    Intermittent tongue angioedema
    SYMPTOMS

 can be the initial presentation of several disorders including

    angiotensin-converting-enzyme inhibitor induced angioedema
    MEDICATION

 and

    hereditary angioedema
    DIAGNOSIS

.

    Persistent angioedema
    SYMPTOMS

 on the other hand, can be associated with

    amyloidosis
    DIAGNOSIS

,

    tumors
    DIAGNOSIS

,

    thyroid disorders
    DIAGNOSIS

 and

    acromegaly
    DIAGNOSIS

. We present a case of

    intermittent episodes of tongue swelling
    SYMPTOMS

 progressing to

    macroglossia
    SYMPTOMS

.

hereditary angioedema
amyloidosis
tumors
thyroid disorders
acromegaly


Acute allergic angioedema of upper lip.

Mishaps can occur during dental procedures, some owing to inattention to detail and others are totally unpredictable. They usually include anaphylaxis or allergic reactions to materials used for restorative purposes or drugs such as local anesthetics. A patient reported to our department with moderate dental fluorosis, and the treatment was planned with indirect composite veneering. During the procedure while cementation acute allergic reaction occurred, the specific cause could not be identified after allergic testing. During the procedure while cementationacute allergic angioedema of upper lip. Anaphylaxis, urticaria, allergy, hereditary atopic eczema, cellulitis, cheilitis granulomatosa, and cheilitis glandularis. The patient was reassured and given prednisolone 10 mg and cetirizine 10 mg orally, once daily for 3 days after which the symptoms subsided. This paper will discuss the pathogenesis, classification, identification, and management of angioedema during dental procedures.

Mishaps can occur during

    dental procedures
    MEDICATION

, some owing to inattention to detail and others are totally unpredictable. They usually include

    anaphylaxis
    SYMPTOMS

 or

    allergic reactions to materials used for restorative purposes
    SYMPTOMS

 or drugs such as

    local anesthetics
    MEDICATION

. A patient reported to our department with

    moderate dental fluorosis
    SYMPTOMS

, and the treatment was planned with

    indirect composite veneering
    MEDICATION

. During the procedure while

    cementation
    MEDICATION

    acute allergic reaction occurred
    SYMPTOMS

,

    the specific cause could not be identified after allergic testing
    NEG_FINDINGS

. During the procedure while cementationacute

    allergic angioedema of upper lip
    SYMPTOMS

.

    Anaphylaxis
    SYMPTOMS

,

    urticaria
    DIAGNOSIS

,

    allergy
    SYMPTOMS

,

    hereditary atopic eczema
    DIAGNOSIS

,

    cellulitis
    DIAGNOSIS

,

    cheilitis granulomatosa
    DIAGNOSIS

, and

    cheilitis glandularis
    DIAGNOSIS

. The patient was reassured and given

    prednisolone 10 mg and cetirizine 10 mg orally, once daily for 3 days
    MEDICATION

 after which the

    symptoms subsided
    SYMPTOMS

. This paper will discuss the pathogenesis, classification, identification, and management of

    angioedema
    DIAGNOSIS

 during

    dental procedures
    MEDICATION

.

urticaria
hereditary atopic eczema
cellulitis
cheilitis granulomatosa
cheilitis glandularis
angioedema


First report of icatibant treatment in a pregnant patient with hereditary angioedema.

Hereditary angioedema resulting from C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder, characterized by recurrent attacks of edema formation. The management of pregnant patients with C1-INH-HAE is often a challenge for the physician. There is limited experience with novel therapies. Plasma-derived nanofiltered C1-INH (pnfC1-INH) is the only recommended therapeutic option during pregnancy. In our 26-year-old female patient with type II C1-INH-HAE, pregnancy was confirmed in the sixth week of gestation. During this period, the patient received the bradykinin B2-receptor antagonist, icatibant, on five occasions, as acute treatment. She experienced 119 attacks, for which she received 108 vials of pnfC1-INH during her pregnancy. The patient gave birth to a healthy baby. No side effects were detected with either treatment. No reports have been published to date on multiple dosing with icatibant during the first trimester of pregnancy. This therapy proved effective and free of maternal or fetal adverse effects.

    Hereditary angioedema resulting
    DIAGNOSIS

 from

    C1-inhibitor deficiency
    BIOCHEMICAL

    (C1-INH-HAE)
    DIAGNOSIS

 is a rare,

    autosomal dominant disorder
    GENETICS

, characterized by

    recurrent attacks of edema formation
    SYMPTOMS

. The management of

    pregnant
    AGE

 patients with

    C1-INH-HAE
    DIAGNOSIS

 is often a challenge for the physician. There is limited experience with novel therapies.

    Plasma-derived nanofiltered C1-INH (pnfC1-INH)
    MEDICATION

 is the only recommended therapeutic option during

    pregnancy
    DIAGNOSIS

. In our

    26-year-old
    AGE

    female
    GENDER

 patient with

    type II C1-INH-HAE
    DIAGNOSIS

,

    pregnancy
    DIAGNOSIS

 was confirmed in the

    sixth week of gestation
    AGE

. During this period, the patient

    received the bradykinin B2-receptor antagonist, icatibant, on five occasions, as acute treatment
    MEDICATION

.

    She
    GENDER

 experienced

    119 attacks
    SYMPTOMS

, for which

    she
    GENDER

    received 108 vials of pnfC1-INH during her pregnancy
    MEDICATION

. The patient

    gave birth to a healthy baby
    MEDICATION

.

    No side effects
    NEG_FINDINGS

 were detected with either treatment. No reports have been published to date on

    multiple dosing with icatibant during the first trimester of pregnancy
    MEDICATION

. This therapy proved effective and

    free of maternal or fetal adverse effects
    NEG_FINDINGS

.

Hereditary angioedema resulting
(C1-INH-HAE)
C1-INH-HAE
pregnancy
type II C1-INH-HAE
pregnancy

recurrent attacks of edema formation
119 attacks


CLINICAL CHARACTERISTICS AND TREATMENT OF MELKERSSON-ROSENTHAL SYNDROME--OVERVIEW OF SIX PATIENTS.

Melkersson-Rosenthal syndrome is a rare disease of unknown etiology. Histopathologically, it presents as granulomatous cheilitis. From laboratory aspect, it is a nonspecific, differential diagnostically and therapeutically complex condition.

This is a report of six cases treated at the Department of Allergology and Immunology of the Clinical Center of Serbia, who had presented with the referral diagnosis of recurring or persistent lip edema, and who were diagnosed with Melkersson-Rosenthal syndrome upon detailed evaluation. Three patients had complete triad of symptoms, two had the oligosymptomatic form and one manifested the monosymptomatic form of the disease. Histopathological findings of the oral mucosa specimens verified the presence of non-necrotic epithelioid granulomas in all patients. The patients were treated with the H1 and H2 antihistamines, corticosteroids, followed by anabolic drugs and antibiotics, resulting in transient and unfavorable effects.

In differential diagnosis, Melkersson-Rosenthal syndrome diagnosis primarily refers to conditions of angioneurotic edema and hereditary angioedema, as well as granulomatous diseases such as sarcoidosis, tuberculosis and Chron's disease. It is necessary to follow-up these patients in view of monitoring the effects of the therapy and possible development of systemic granulomatous diseases.

    Melkersson-Rosenthal syndrome
    DIAGNOSIS

 is a

    rare disease of unknown etiology
    DIAGNOSIS

. Histopathologically, it presents as

    granulomatous cheilitis
    MICROSCOPIC

. From laboratory aspect, it is a nonspecific,

    differential diagnostically
    PARACLINICAL

 and therapeutically complex condition.

This is a report of six cases treated at the Department of

    Allergology and Immunology
    PARACLINICAL

 of the Clinical Center of

    Serbia
    ETHNICITY

, who had presented with the referral diagnosis of

    recurring or persistent lip edema
    SYMPTOMS

, and who were diagnosed with

    Melkersson-Rosenthal syndrome
    DIAGNOSIS

 upon detailed evaluation. Three patients had

    complete triad of symptoms
    SYMPTOMS

, two had the

    oligosymptomatic form
    SYMPTOMS

 and one manifested the

    monosymptomatic form of the disease
    DIAGNOSIS

.

    Histopathological findings of the oral mucosa specimens
    PARACLINICAL

 verified the

    presence of non-necrotic epithelioid granulomas
    MICROSCOPIC

 in all patients. The patients were treated with

    the H1 and H2 antihistamines, corticosteroids, followed by anabolic drugs and antibiotics
    MEDICATION

, resulting in

    transient and unfavorable effects
    SYMPTOMS

.

In

    differential diagnosis
    PARACLINICAL

,

    Melkersson-Rosenthal syndrome
    DIAGNOSIS

 diagnosis primarily refers to conditions of

    angioneurotic edema
    SYMPTOMS

 and

    hereditary angioedema
    SYMPTOMS

, as well as

    granulomatous diseases
    DIAGNOSIS

 such as

    sarcoidosis
    DIAGNOSIS

,

    tuberculosis
    DIAGNOSIS

 and

    Chron's disease
    DIAGNOSIS

. It is necessary to follow-up these patients in view of monitoring the effects of the therapy and possible development of

    systemic granulomatous diseases
    DIAGNOSIS

.

Melkersson-Rosenthal syndrome
rare disease of unknown etiology
Melkersson-Rosenthal syndrome
monosymptomatic form of the disease
Melkersson-Rosenthal syndrome
granulomatous diseases
sarcoidosis
tuberculosis
Chron's disease
systemic granulomatous diseases

recurring or persistent lip edema
complete triad of symptoms
oligosymptomatic form
transient and unfavorable effects
angioneurotic edema
hereditary angioedema


Hereditary angioedema type I: a case report.

Hereditary angioedema is a rare disease with great heterogeneity of symptoms such as edema of the skin, gastro-intestinal mucosa and larynx or pharynx. Even though there are three types, the most frequent is type I, which is a result from a deficiency of the complement C1 inhibitor. The severity of its symptoms along with the low prevalence of the disease and the need for appropriate specific treatment make the diagnosis and treatment of the pathology an outstanding subject for the family physician. The present is the case of a male teenager with alpha-1 antitrypsin deficiency since he was six months old, angioedema on arms and legs since 11 years old and diagnosed with hereditary angioedema type I one year after. The definitive diagnosis of the disease enabled an appropriate treatment which consists in preventing outbreaks that may compromise the patient's life and, if they occur, administration of complement C1 inhibitor.

    Hereditary angioedema
    DIAGNOSIS

 is a rare disease with great heterogeneity of symptoms such as

    edema of the skin, gastro-intestinal mucosa and larynx or pharynx
    SYMPTOMS

. Even though there are three types, the most frequent is

    type I
    DIAGNOSIS

, which is a result from a

    deficiency of the complement C1 inhibitor
    BIOCHEMICAL

. The severity of its symptoms along with the low prevalence of the disease and the need for appropriate specific treatment make the diagnosis and treatment of the pathology an outstanding subject for the

    family physician
    PARACLINICAL

. The present is the case of a

    male
    GENDER

    teenager
    AGE

 with

    alpha-1 antitrypsin deficiency
    BIOCHEMICAL

 since

    he
    GENDER

    was six months old
    AGE

,

    angioedema on arms and legs
    SYMPTOMS

    since 11 years old
    AGE

 and diagnosed with

    hereditary angioedema type I
    DIAGNOSIS

 one year after. The definitive diagnosis of the disease enabled an appropriate treatment which consists in preventing outbreaks that may compromise the patient's life and, if they occur,

    administration of complement C1 inhibitor
    MEDICATION

.

Hereditary angioedema
type I
hereditary angioedema type I


Isolated Intestinal Angioedema in the Emergency Department.

Angioedema is a condition that can cause cutaneous and mucosal edema of practically any part of the body. Isolated edema of the intestines is a rather rare manifestation, but it can cause important morbidity. Hereditary angioedema as well as certain medications can give rise to intestinal angioedema. We have seen a rise in frequency of intestinal angioedema since the advent of angiotensin-converting enzyme inhibitors. Ultrasound of the abdomen is an inexpensive, safe, and easy tool that can help in the differential diagnosis.

We describe the case of a 25-year-old woman who presented with acute abdominal pain. She was diagnosed with intestinal angioedema due to hereditary angioedema type I. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Misdiagnosis can lead to administering the wrong treatment or even unnecessary surgical interventions. Intestinal angioedema is best treated with purified C1-inhibitor, icatibant, or ecallantide. Fresh frozen plasma is to be avoided because it carries the risk of worsening the symptoms.

    Angioedema
    DIAGNOSIS

 is a condition that can cause

    cutaneous and mucosal edema of practically any part of the body
    SYMPTOMS

.

    Isolated edema of the intestines
    SYMPTOMS

 is a rather rare manifestation, but it can cause important morbidity.

    Hereditary angioedema
    DIAGNOSIS

 as well as certain medications can give rise to

    intestinal angioedema
    SYMPTOMS

. We have seen a rise in frequency of

    intestinal angioedema
    DIAGNOSIS

 since the advent of

    angiotensin-converting enzyme inhibitors
    MEDICATION

.

    Ultrasound of the abdomen
    PARACLINICAL

 is an inexpensive, safe, and easy tool that can help in the

    differential diagnosis
    PARACLINICAL

.

We describe the case of a

    25-year-old
    AGE

    woman
    GENDER

 who presented with

    acute abdominal pain
    SYMPTOMS

.

    She
    GENDER

 was diagnosed with

    intestinal angioedema
    DIAGNOSIS

 due to hereditary angioedema type I. WHY SHOULD AN

    EMERGENCY PHYSICIAN
    PARACLINICAL

 BE AWARE OF THIS?: Misdiagnosis can lead to

    administering the wrong treatment
    NEG_FINDINGS

 or even

    unnecessary surgical interventions
    NEG_FINDINGS

.

    Intestinal angioedema
    DIAGNOSIS

 is best treated with

    purified C1-inhibitor, icatibant, or ecallantide
    MEDICATION

.

    Fresh frozen plasma
    NEG_FINDINGS

 is to be avoided because it carries the risk of

    worsening the symptoms
    SYMPTOMS

.

Angioedema
Hereditary angioedema
intestinal angioedema
intestinal angioedema
Intestinal angioedema

administering the wrong treatment
unnecessary surgical interventions
Fresh frozen plasma


Hereditary angioedema type 2 presented as an orbital complication of acute rhinosinusitis.

Hereditary angioedema is an autosomal dominant and life-threatening disorder characterized by recurrent episodes of non-pitting edema affecting the skin, respiratory system and digestive tracts and caused by a congenital deficiency or function defect of the C1 esterase inhibitor. Preseptal cellulitis is defined as an infection of the tissues of the anterior orbital septum. It is generally caused by complications from an upper respiratory tract infection, dacryocystitis, dermal infection, and, rarely, sinusitis. The disease presents with orbital pain, edema on the eyelids, erythema, and fever. In this case, a child with hereditary angioedema type 2 who presented as mimicking a complication of acute sinusitis is discussed.

    Hereditary angioedema
    DIAGNOSIS

 is an

    autosomal dominant
    GENETICS

 and life-threatening disorder characterized by

    recurrent episodes of non-pitting edema affecting the skin, respiratory system and digestive tracts
    SYMPTOMS

 and caused by a

    congenital deficiency or function defect of the C1 esterase inhibitor
    GENETICS

.

    Preseptal cellulitis
    DIAGNOSIS

 is defined as an

    infection of the tissues of the anterior orbital septum
    SYMPTOMS

. It is generally caused by complications from an

    upper respiratory tract infection
    SYMPTOMS

,

    dacryocystitis
    DIAGNOSIS

,

    dermal infection
    DIAGNOSIS

, and, rarely,

    sinusitis
    DIAGNOSIS

. The disease presents with

    orbital pain
    SYMPTOMS

,

    edema on the eyelids
    SYMPTOMS

,

    erythema
    SYMPTOMS

, and

    fever
    SYMPTOMS

. In this case, a

    child
    AGE

 with

    hereditary angioedema type 2
    DIAGNOSIS

 who presented as

    mimicking a complication of acute sinusitis
    SYMPTOMS

 is discussed.

Hereditary angioedema
Preseptal cellulitis
dacryocystitis
dermal infection
sinusitis
hereditary angioedema type 2


Hereditary Angioedema Presenting as Recurrent Acute Pancreatitis.

Hereditary angioedema (HAE) may manifest with swelling of the face, extremities, and upper airways. Gastrointestinal symptoms are also common and may include abdominal pain, vomiting, and diarrhea. However, pancreatic involvement is rare and has been reported only in a few adults with previously diagnosed HAE. We describe a 6-year-old boy who presented with recurrent severe abdominal pain accompanied by an elevation in pancreatic enzyme levels, without subcutaneous or cutaneous angioedema. His symptoms had begun 18 months earlier, and he was hospitalized several times before the present admission with a diagnosis of acute pancreatitis. More comprehensive analysis yielded low levels of C2, C4, CH50, and C1 esterase inhibitor, establishing the diagnosis of HAE. One year after diagnosis, swelling of the extremities appeared for the first time. This is the first report of a child in whom pancreatic disease was the presenting symptom of HAE. HAE should be included in the differential diagnosis of recurrent pancreatitis in children.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 may manifest with

    swelling of the face, extremities, and upper airways
    SYMPTOMS

.

    Gastrointestinal symptoms
    SYMPTOMS

 are also common and may include

    abdominal pain
    SYMPTOMS

,

    vomiting
    SYMPTOMS

, and

    diarrhea
    SYMPTOMS

. However,

    pancreatic involvement
    SYMPTOMS

 is rare and has been reported only in a few

    adults
    AGE

 with previously diagnosed

    HAE
    DIAGNOSIS

. We describe a

    6-year-old
    AGE

    boy
    GENDER

 who presented with

    recurrent severe abdominal pain
    SYMPTOMS

 accompanied by an

    elevation in pancreatic enzyme levels
    BIOCHEMICAL

,

    without subcutaneous or cutaneous angioedema
    NEG_FINDINGS

.

    His
    GENDER

 symptoms had begun 18 months earlier, and

    he
    GENDER

 was hospitalized several times before the present admission with a diagnosis of

    acute pancreatitis
    DIAGNOSIS

.

    More comprehensive analysis
    PARACLINICAL

 yielded

    low levels of C2, C4, CH50, and C1 esterase inhibitor
    BIOCHEMICAL

, establishing the diagnosis of

    HAE
    DIAGNOSIS

. One year after diagnosis,

    swelling of the extremities
    SYMPTOMS

 appeared for the first time. This is the first report of a

    child
    AGE

 in whom

    pancreatic disease
    SYMPTOMS

 was the presenting symptom of

    HAE
    DIAGNOSIS

.

    HAE
    DIAGNOSIS

 should be included in the

    differential diagnosis
    PARACLINICAL

 of

    recurrent pancreatitis
    DIAGNOSIS

 in

    children
    AGE

.

Hereditary angioedema (HAE)
HAE
acute pancreatitis
HAE
HAE
HAE
recurrent pancreatitis


[Anesthetic considerations for a patient with hereditary angioedema - A clinical case].

Hereditary angioedema (HAE), with an estimated prevalence of 1:50 000, is a rare but potentially fatal disease. It may present with recurrent systemic edema of the subcutaneous tissue and mucous membranes. Patients with HAE are at increased risk for clinical worsening with surgical stress, and may develop respiratory distress syndrome due to impaired airway and hemodynamic instability. The perioperative management of these patients requires specific interventions. We present a clinical case of a woman, 50 years old, with HAE type II scheduled for ureteral stent placement via endoscopic approach.

    Hereditary angioedema (HAE)
    DIAGNOSIS

, with an estimated prevalence of 1:50 000, is a rare but potentially fatal disease. It may present with

    recurrent systemic edema of the subcutaneous tissue and mucous membranes
    SYMPTOMS

. Patients with

    HAE
    DIAGNOSIS

 are at increased risk for

    clinical worsening
    SYMPTOMS

 with

    surgical stress
    SYMPTOMS

, and may develop

    respiratory distress syndrome
    SYMPTOMS

 due to

    impaired airway
    SYMPTOMS

 and

    hemodynamic instability
    SYMPTOMS

. The perioperative management of these patients requires specific interventions. We present a clinical case of a

    woman
    GENDER

,

    50 years old
    AGE

, with

    HAE type II
    DIAGNOSIS

 scheduled for

    ureteral stent placement via endoscopic approach
    MEDICATION

.

Hereditary angioedema (HAE)
HAE
HAE type II


Erythema Marginatum as an Early Symptom of Hereditary Angioedema: Case Report of 2 Newborns.

Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare genetic disease that causes recurrent swelling attacks that may affect various body tissues. Angioedematous attacks can be fatal in the case of upper airway edema and are often preceded by prodromal symptoms like erythema marginatum. Initial symptoms usually occur in the first decade of life. We report on manifestation of profound and recurrent erythema marginatum in 2 newborns. In both cases, prodromal symptoms could help determine the diagnosis of C1-INH-HAE such that, at a later time, angioedematous attacks could be treated promptly and effectively. Awareness of C1-INH-HAE is low among physicians and even lower among the general public. This report aims at raising the level of awareness and shows that initial symptoms of the potentially life-threatening condition can manifest in newborns and that erythema marginatum can even be present at birth. Recognition of early symptoms and timely diagnosis of the disease along with adequate education of the pediatrician and parents are a prerequisite for prompt and effective treatment of attacks and the successful management of the disease.

    Hereditary angioedema due to C1 inhibitor deficiency
    DIAGNOSIS

    (C1-INH-HAE)
    DIAGNOSIS

 is a

    rare genetic disease
    GENETICS

 that causes

    recurrent swelling attacks
    SYMPTOMS

 that may

    affect various body tissues
    SYMPTOMS

.

    Angioedematous attacks
    SYMPTOMS

 can be fatal in the case of

    upper airway edema
    SYMPTOMS

 and are often preceded by

    prodromal symptoms
    SYMPTOMS

 like

    erythema marginatum
    SYMPTOMS

. Initial symptoms usually occur

    in the first decade of life
    AGE

. We report on manifestation of

    profound and recurrent erythema marginatum
    SYMPTOMS

 in 2

    newborns
    AGE

. In both cases,

    prodromal symptoms
    SYMPTOMS

 could help determine the diagnosis of

    C1-INH-HAE
    DIAGNOSIS

 such that, at a later time,

    angioedematous attacks
    SYMPTOMS

 could be treated promptly and effectively. Awareness of

    C1-INH-HAE
    DIAGNOSIS

 is low among physicians and even lower among the general public. This report aims at raising the level of awareness and shows that

    initial symptoms of the potentially life-threatening condition
    SYMPTOMS

 can manifest in

    newborns
    AGE

 and that

    erythema marginatum
    SYMPTOMS

 can even be present at

    birth
    AGE

. Recognition of early symptoms and timely diagnosis of the disease along with adequate education of the pediatrician and parents are a prerequisite for prompt and effective treatment of attacks and the successful management of the disease.


Angiotensin Converting Enzyme Inhibitor-related Angioedema: A Case of an Unexpected Death.

Angioedema is an asymmetric non-pitting oedema on face, lips, tongue and mucous membranes; any delay in diagnosis and treatment can be fatal. Treatment with lisinopril as an angiotensin converting enzyme (ACE) inhibitor, can be a reason of angioedema. Here we report a case who developed oral-facial edema four years after using lisinopril/hydrochlorothiazide. Laryngeal oedema is a main cause of death in angioedema. The treatment of choice in angioedema including fresh frozen plasma, C1 inhibitor concentrations and BRK-2 antagonists (bradykinin B2 receptor antagonists) were used. In this case; a 77 years old female patient suffering from hypertension was considered. This patient was suffering two days from swelling on her face and neck. Non- allergic angioedema was distinguished in five major forms; acquired (AAO), hereditary (HAE), renin-angiotensin-aldosterone system (RAAS) blocker-dependent, pseudoallergic angioedema (PAS) and an idiopathic angioedema (IAO). She was admitted to our clinic with the diagnosis of hereditary angioedema. Patient had skin edema and life threatening laryngeal edema. In emergency department treatment was started using intravenous methylprednisolone, diphenydramine as well as inhaled and subcutaneous epinephrine simultaneously. Despite the initial treatment, the patient died due to the insufficient respiration and cardiac arrest. The patient has no history of kidney disease.

    Angioedema
    DIAGNOSIS

 is an

    asymmetric non-pitting oedema on face, lips, tongue and mucous membranes
    SYMPTOMS

; any delay in diagnosis and treatment can be fatal. Treatment with

    lisinopril as an angiotensin converting enzyme (ACE) inhibitor
    MEDICATION

, can be a reason of

    angioedema
    DIAGNOSIS

. Here we report a case who developed

    oral-facial edema
    SYMPTOMS

 four years after using

    lisinopril/hydrochlorothiazide
    MEDICATION

.

    Laryngeal oedema
    SYMPTOMS

 is a main cause of

    death
    SYMPTOMS

 in

    angioedema
    DIAGNOSIS

. The treatment of choice in

    angioedema
    DIAGNOSIS

 including

    fresh frozen plasma, C1 inhibitor concentrations and BRK-2 antagonists (bradykinin B2 receptor antagonists)
    MEDICATION

 were used. In this case; a

    77 years old
    AGE

    female
    GENDER

 patient suffering from

    hypertension
    DIAGNOSIS

 was considered. This patient was suffering two days from

    swelling on her face and neck
    SYMPTOMS

.

    Non- allergic angioedema
    DIAGNOSIS

 was distinguished in five major forms;

    acquired (AAO)
    DIAGNOSIS

,

    hereditary (HAE)
    DIAGNOSIS

,

    renin-angiotensin-aldosterone system (RAAS) blocker-dependent
    MEDICATION

,

    pseudoallergic angioedema (PAS)
    DIAGNOSIS

 and an

    idiopathic angioedema (IAO)
    DIAGNOSIS

.

    She
    GENDER

 was admitted to our clinic with the diagnosis of

    hereditary angioedema
    DIAGNOSIS

. Patient had

    skin edema
    SYMPTOMS

 and

    life threatening laryngeal edema
    SYMPTOMS

. In emergency department treatment was started using

    intravenous methylprednisolone, diphenydramine as well as inhaled and subcutaneous epinephrine simultaneously
    MEDICATION

.

    Despite the initial treatment
    NEG_FINDINGS

, the patient

    died
    SYMPTOMS

 due to the

    insufficient respiration
    SYMPTOMS

 and

    cardiac arrest
    SYMPTOMS

. The patient has

    no history of kidney disease
    NEG_FINDINGS

.

Angioedema
angioedema
angioedema
angioedema
hypertension
Non- allergic angioedema
acquired (AAO)
hereditary (HAE)
pseudoallergic angioedema (PAS)
idiopathic angioedema (IAO)
hereditary angioedema

Despite the initial treatment
no history of kidney disease


Hereditary angioedema presenting as irritable bowel syndrome: a case of early closure.

Abdominal pain is one of the most common reasons for outpatient and emergency department visits. We present one such case of early closure in a 32-year-old male with recurrent abdominal pain who was diagnosed with irritable bowel syndrome (IBS). Family history was suspicious for hereditary angioedema (HAE). The HAE workup came back positive, and the patient was started on prophylactic therapy, which led to an improvement in symptoms and quality of life. The purpose of this case is to create awareness among physicians to test for HAE in patients diagnosed with IBS who, based on their history or physical examination, have clinical suspicion for HAE.

    Abdominal pain
    SYMPTOMS

 is one of the most common reasons for outpatient and emergency department visits. We present one such case of

    early closure
    DIAGNOSIS

 in a

    32-year-old
    AGE

    male
    GENDER

 with

    recurrent abdominal pain
    SYMPTOMS

 who was diagnosed with

    irritable bowel syndrome (IBS)
    DIAGNOSIS

.

    Family history was suspicious for hereditary angioedema (HAE)
    FAMILY

. The

    HAE workup
    PARACLINICAL

 came back positive, and the patient was started on

    prophylactic therapy
    MEDICATION

, which led to an

    improvement in symptoms and quality of life
    SYMPTOMS

. The purpose of this case is to create awareness among physicians to test for

    HAE
    DIAGNOSIS

 in patients diagnosed with

    IBS
    DIAGNOSIS

 who, based on their history or physical examination, have clinical suspicion for

    HAE
    DIAGNOSIS

.

early closure
irritable bowel syndrome (IBS)
HAE
IBS
HAE


The safety of treatments for angioedema with hereditary C1 inhibitor deficiency.

Angioedema is a localized and self-limiting edema of the subcutaneous and submucosal tissue. Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is the best characterized form of hereditary angioedema. In C1-INH-HAE, the reduced plasma levels of C1-INH cause instability of the contact system with release of bradykinin, the key mediator of angioedema. C1-INH-HAE is characterized by recurrent skin swelling, abdominal pain, and potentially life-threatening upper airways obstruction. Knowledge of the molecular mechanisms leading from C1-INH deficiency to angioedema allowed the development of several therapies.

The aim of this review article is to discuss the safety of currently available treatments of C1-INH-HAE. The authors give an insight on the mechanism of action and safety profile of drugs for treatment of acute attacks and for short- and long-term prophylaxis. Evidence from systematic reviews, clinical trials, retrospective studies, and case reports is summarized in this review.

C1-INH-HAE is a disabling, life-threatening condition that lasts life-long. Different therapeutic approaches with different drugs provide significant benefit to patients. Safety profiles of these therapies are critical for optimal therapeutic decision and need to be known by C1-INH-HAE treating physicians for appropriate risk/benefit evaluation.

    Angioedema
    DIAGNOSIS

 is a

    localized and self-limiting edema of the subcutaneous and submucosal tissue
    SYMPTOMS

.

    Hereditary angioedema with C1 inhibitor deficiency
    DIAGNOSIS

    (C1-INH-HAE)
    DIAGNOSIS

 is the best characterized form of

    hereditary angioedema
    DIAGNOSIS

. In

    C1-INH-HAE
    DIAGNOSIS

, the

    reduced plasma levels of C1-INH
    BIOCHEMICAL

 cause

    instability of the contact system
    BIOCHEMICAL

 with

    release of bradykinin
    BIOCHEMICAL

, the key mediator of

    angioedema
    SYMPTOMS

.

    C1-INH-HAE
    DIAGNOSIS

 is characterized by

    recurrent skin swelling
    SYMPTOMS

,

    abdominal pain
    SYMPTOMS

, and

    potentially life-threatening upper airways obstruction
    SYMPTOMS

. Knowledge of the molecular mechanisms leading from

    C1-INH deficiency
    BIOCHEMICAL

 to

    angioedema
    DIAGNOSIS

 allowed the development of several therapies.

The aim of this review article is to discuss the safety of currently available treatments of

    C1-INH-HAE
    DIAGNOSIS

. The authors give an insight on the mechanism of action and safety profile of drugs for treatment of

    acute attacks
    DIAGNOSIS

 and for

    short- and long-term prophylaxis
    MEDICATION

. Evidence from systematic reviews, clinical trials, retrospective studies, and case reports is summarized in this review.

    C1-INH-HAE
    DIAGNOSIS

 is a disabling,

    life-threatening
    SYMPTOMS

 condition that lasts life-long. Different therapeutic approaches with different drugs provide significant benefit to patients. Safety profiles of these therapies are critical for optimal therapeutic decision and need to be known by

    C1-INH-HAE
    DIAGNOSIS

 treating physicians for appropriate risk/benefit evaluation.

reduced plasma levels of C1-INH
instability of the contact system
release of bradykinin
C1-INH deficiency


[Perioperative Management of a Patient with Hereditary Angioedema: A Case Report].

Hereditary angioedema (HAE) is a very rare disease that occurs in about 1 in 50,000 to 150,000 people. HAE is caused by low levels or inproper function of the plasma protein C1 inhibitor (C1-INH) which regulates activation of the complement system and the coagulation system. The typical symptom of HAE is regional swellings without pain nor itching, usually triggered by physical trauma or emotional stress. Unlike allergic edema, HAE attacks do not respond to antihistamines, corticosteroids noradrenaline. The swelling attacks against face and throat are potentially life-threatening, and should be treated as a medical emergency. We report a patient with HAE who underwent radical cystectomy of the upper gum under general anesthesia. Because the oral surgery with tracheal intubation is known to be a risk factor of laryngeal edema in a patient with HAE, she was given C1-INH before operation to prevent laryngeal edema according to HAE Guideline 2010 by the Japanese Association for Complement Research. Her pharynx and larynx were checked with Airwayscope before intubation and with bronchofiberscope before extubation, but no edema was recognized. Postoperatively, she was given C1-INH on the next morning again. She was discharged seven days after operation without any complications.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a very rare disease that occurs in about 1 in 50,000 to 150,000 people.

    HAE
    DIAGNOSIS

 is caused by

    low levels or inproper function of the plasma protein C1 inhibitor (C1-INH) which regulates activation of the complement system and the coagulation system
    BIOCHEMICAL

. The typical symptom of

    HAE
    DIAGNOSIS

 is

    regional swellings
    SYMPTOMS

    without pain nor itching
    NEG_FINDINGS

, usually triggered by

    physical trauma or emotional stress
    SYMPTOMS

.

    Unlike allergic edema
    NEG_FINDINGS

,

    HAE attacks do not respond to antihistamines, corticosteroids noradrenaline
    DIAGNOSIS

. The

    swelling attacks against face and throat
    SYMPTOMS

 are

    potentially life-threatening
    SYMPTOMS

, and should be treated as a medical emergency. We report a patient with

    HAE
    DIAGNOSIS

 who underwent

    radical cystectomy of the upper gum
    MEDICATION

 under

    general anesthesia
    MEDICATION

. Because the

    oral surgery with tracheal intubation
    MEDICATION

 is known to be a risk factor of

    laryngeal edema
    SYMPTOMS

 in a patient with

    HAE
    DIAGNOSIS

,

    she
    GENDER

 was

    given C1-INH before operation
    MEDICATION

 to prevent

    laryngeal edema
    SYMPTOMS

 according to HAE Guideline 2010 by the Japanese Association for Complement Research.

    Her
    GENDER

    pharynx and larynx were checked with Airwayscope before intubation and with bronchofiberscope before extubation
    PARACLINICAL

, but

    no edema was recognized
    NEG_FINDINGS

. Postoperatively,

    she
    GENDER

 was given

    C1-INH
    MEDICATION

 on the next morning again.

    She
    GENDER

 was discharged seven days after operation

    without any complications
    NEG_FINDINGS

.

without pain nor itching
Unlike allergic edema
no edema was recognized
without any complications

radical cystectomy of the upper gum
general anesthesia
oral surgery with tracheal intubation
given C1-INH before operation
C1-INH


Off-Label Use of Agents for Management of Serious or Life-threatening Angiotensin Converting Enzyme Inhibitor-Induced Angioedema.

To evaluate the place in therapy of fresh frozen plasma (FFP), C1 esterase concentrate (C1-INH), ecallantide, and icatibant in the management of angiotensin-converting enzyme inhibitor-induced angioedema (ACEI-IA).

A literature search was performed using PubMed (1946 through August 2015) and Embase (<1966 through August 2015). References from identified articles were reviewed.

Consensus papers, practice guidelines, case reports/series, clinical trials, and meeting abstracts published in English and involving humans were included.

No medications are currently Food and Drug Administration-approved for managing ACEI-IA. Emerging evidence suggests that FFP and medications approved for management of acute attacks of hereditary angioedema, another bradykinin-mediated event, may be effective for use in ACEI-IA. Positive efficacy results were reported with FFP and C1-INH while mixed results have been seen with ecallantide. Off-label icatibant has the most evidence supporting its use in ACEI-IA with rapid symptom resolution (10 minutes to 6 hours) and avoidance of intubation and tracheotomy in several cases. These agents were well-tolerated in ACEI-IA.

ACEI-IA is typically a self-limiting event. First-line therapies include ACEI discontinuation, observation, and supportive medications (eg, corticosteroids, antihistamines, and epinephrine). Symptom progression can be life-threatening and may require interventions such as tracheotomy and intubation. Off-label use of FFP and medications approved for hereditary angioedema have resulted in rapid resolution of symptoms and avoidance of intubation. Among these agents, icatibant has the most supporting evidence and has been incorporated into practice guidelines and algorithms as a second-line agent for serious life-threatening ACE-IA.

To evaluate the place in therapy of

    fresh frozen plasma (FFP), C1 esterase concentrate (C1-INH), ecallantide
    MEDICATION

, and

    icatibant
    MEDICATION

 in the management of

    angiotensin-converting enzyme inhibitor-induced angioedema (ACEI-IA)
    MEDICATION

.

Consensus papers, practice guidelines, case reports/series, clinical trials, and meeting abstracts published in English and involving

    humans
    GENDER

 were included.

    No medications
    NEG_FINDINGS

 are currently Food and Drug Administration-approved for managing

    ACEI-IA
    DIAGNOSIS

. Emerging evidence suggests that

    FFP
    MEDICATION

 and medications approved for management of

    acute attacks of hereditary angioedema
    DIAGNOSIS

, another

    bradykinin-mediated event
    DIAGNOSIS

, may be effective for use in

    ACEI-IA
    DIAGNOSIS

. Positive efficacy results were reported with

    FFP and C1-INH
    MEDICATION

 while mixed results have been seen with

    ecallantide
    MEDICATION

.

    Off-label icatibant
    MEDICATION

 has the most evidence supporting its use in

    ACEI-IA
    DIAGNOSIS

 with

    rapid symptom resolution (10 minutes to 6 hours)
    SYMPTOMS

 and

    avoidance of intubation and tracheotomy
    MEDICATION

 in several cases. These agents were well-tolerated in

    ACEI-IA
    DIAGNOSIS

.

    ACEI-IA
    DIAGNOSIS

 is typically a

    self-limiting event
    SYMPTOMS

. First-line therapies include

    ACEI discontinuation
    MEDICATION

,

    observation
    MEDICATION

, and

    supportive medications (eg, corticosteroids, antihistamines, and epinephrine)
    MEDICATION

.

    Symptom progression
    SYMPTOMS

 can be

    life-threatening
    SYMPTOMS

 and may require

    interventions such as tracheotomy
    MEDICATION

    and intubation
    MEDICATION

.

    Off-label use of FFP and medications
    MEDICATION

 approved for

    hereditary angioedema
    DIAGNOSIS

 have resulted in

    rapid resolution of symptoms
    SYMPTOMS

 and

    avoidance of intubation
    MEDICATION

. Among these agents,

    icatibant
    MEDICATION

 has the most supporting evidence and has been incorporated into practice guidelines and algorithms as a second-line agent for

    serious life-threatening ACE-IA
    DIAGNOSIS

.

ACEI-IA
acute attacks of hereditary angioedema
bradykinin-mediated event
ACEI-IA
ACEI-IA
ACEI-IA
ACEI-IA
hereditary angioedema
serious life-threatening ACE-IA


Use of C1 Inhibitor for Angiotensin-Converting Enzyme (ACE) Inhibitor-Induced Angioedema Decreases Mechanical Ventilation Time.

Angiotensin-converting enzyme (ACE) inhibitor-induced angioedema is a rare, albeit serious emergency that can result in airway compromise and potentially death if not treated promptly. Currently, there are no agents approved by the Food and Drug Administration to target ACE inhibitor angioedema and to prevent intubation. C1 inhibitors are approved for hereditary angioedema but may show promise in alleviating inflammation associated with ACE inhibitor angioedema.

A 41-year-old man presented to the emergency department with swelling of his lips a few days after starting lisinopril for hypertension. Despite receiving diphenhydramine, ranitidine, and methylprednisolone, the swelling progressed to the patient's tongue. A C1 inhibitor was ordered in an effort to prevent intubation. Before the arrival of the medication, the patient was intubated emergently for airway protection. After receipt of the C1 inhibitor, the swelling dramatically improved, and the patient was successfully extubated after less than 18 hours from presentation. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This case illustrates a potential role for C1 inhibitors in the emergency setting for treating drug-induced angioedema, which may prevent or minimize mechanical ventilation time.

    Angiotensin-converting enzyme (ACE) inhibitor-induced angioedema
    DIAGNOSIS

 is a rare, albeit serious emergency that can result in

    airway compromise
    SYMPTOMS

 and potentially

    death
    SYMPTOMS

 if not treated promptly. Currently, there are no agents approved by the Food and Drug Administration to target

    ACE inhibitor angioedema
    DIAGNOSIS

 and to

    prevent intubation
    MEDICATION

.

    C1 inhibitors
    MEDICATION

 are approved for

    hereditary angioedema
    DIAGNOSIS

 but may show promise in

    alleviating inflammation associated with ACE inhibitor angioedema
    SYMPTOMS

.

A

    41-year-old
    AGE

    man
    GENDER

 presented to the emergency department with

    swelling of his lips
    SYMPTOMS

 a few days after starting

    lisinopril
    MEDICATION

 for

    hypertension
    MEDICATION

.

    Despite receiving diphenhydramine, ranitidine, and methylprednisolone
    NEG_FINDINGS

, the

    swelling progressed to the patient's tongue
    SYMPTOMS

. A

    C1 inhibitor
    MEDICATION

 was ordered in an effort to

    prevent intubation
    MEDICATION

. Before the

    arrival of the medication
    MEDICATION

, the patient was

    intubated emergently for airway protection
    MEDICATION

. After

    receipt of the C1 inhibitor
    MEDICATION

, the

    swelling dramatically improved
    SYMPTOMS

, and the patient was

    successfully extubated
    MEDICATION

 after

    less than 18 hours
    MEDICATION

 from presentation. WHY SHOULD AN

    EMERGENCY PHYSICIAN
    PARACLINICAL

 BE AWARE OF THIS?: This case illustrates a potential role for

    C1 inhibitors
    MEDICATION

 in the emergency setting for treating

    drug-induced angioedema
    DIAGNOSIS

, which may prevent or

    minimize mechanical ventilation time
    MEDICATION

.


Hereditary angioedema: A rare presentation after anterior cervical discectomy and fusion.

Hereditary angioedema is an autosomal dominant disorder following a genetic defect of C1 inhibitor gene on chromosome 11. This rare condition presents itself as a recurrent attack of submucosal swelling mostly involving skin, gastrointestinal tract and upper respiratory airway and exacerbates with any physical and emotional stress. Prompt diagnosis and prevention of an acute attack with early recognition and effective treatment can protect the patient from potential laryngeal edema and fatality.

    Hereditary angioedema
    DIAGNOSIS

 is an

    autosomal dominant disorder
    GENETICS

 following a

    genetic defect of C1 inhibitor gene on chromosome 11
    GENETICS

. This rare condition presents itself as a

    recurrent attack of submucosal swelling mostly involving skin, gastrointestinal tract and upper respiratory airway
    SYMPTOMS

 and exacerbates with any

    physical and emotional stress
    SYMPTOMS

. Prompt diagnosis and prevention of an acute attack with early recognition and

    effective treatment
    MEDICATION

 can protect the patient from potential

    laryngeal edema
    SYMPTOMS

 and

    fatality
    SYMPTOMS

.


Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema.

Hereditary angio-oedema (HAE) with normal C1 inhibitor is associated with heterozygous mutations in the factor XII gene (FXII-HAE). We report two Brazilian FXII-HAE families segregating the mutation c.983 C>A (p.Thr328Lys). In each family, one patient with a homozygous mutation was found. The homozygous female patient in family 1 displayed a severe phenotype. However, this falls within the clinical phenotype spectrum reported for heterozygous female mutation carriers. The homozygous male patient in family 2 also showed a severe phenotype. This finding is intriguing, as to our knowledge, it is the first such report for a male FXII-HAE mutation carrier. In the rare instances in which male mutation carriers are affected, a mild phenotype is typical. The present findings therefore suggest that homozygous FXII-HAE mutation status leads to a severe phenotype in females and males, and to an increased risk of manifest symptoms in the latter.

    Hereditary angio-oedema (HAE)
    DIAGNOSIS

 with

    normal C1 inhibitor
    NEG_FINDINGS

 is associated with

    heterozygous mutations in the factor XII gene (FXII-HAE)
    GENETICS

. We report two

    Brazilian
    ETHNICITY

    FXII-HAE
    DIAGNOSIS

 families

    segregating the mutation c.983 C>A (p.Thr328Lys)
    GENETICS

. In each family, one patient with a

    homozygous mutation
    GENETICS

 was found. The

    homozygous female
    GENETICS

 patient in family 1 displayed a

    severe phenotype
    SYMPTOMS

. However, this falls within the clinical phenotype spectrum reported for

    heterozygous female
    GENETICS

 mutation carriers. The homozygous

    male
    GENDER

 patient in family 2 also showed a

    severe phenotype
    SYMPTOMS

. This finding is intriguing, as to our knowledge, it is the first such report for a

    male
    GENDER

    FXII-HAE mutation carrier
    GENETICS

. In the rare instances in which

    male
    GENDER

 mutation carriers are affected, a

    mild phenotype
    SYMPTOMS

 is typical. The present findings therefore suggest that

    homozygous FXII-HAE mutation status
    GENETICS

 leads to a severe phenotype in

    females
    GENDER

 and

    males
    GENDER

, and to an increased risk of

    manifest symptoms
    SYMPTOMS

 in the latter.

severe phenotype
severe phenotype
mild phenotype
manifest symptoms


Current treatment options for idiopathic angioedema.

Idiopathic angioedema is defined as localized swelling of the cutaneous and mucosal tissue that occurs in episodes without a clear etiology. It can be problematic to treat when the underlying pathophysiology is not well understood.

To identify successful treatments of idiopathic angioedema reported in the literature.

A literature search was performed using PubMed. Published case reports and articles discussing treatment of idiopathic angioedema were used in the formulation of this review. In addition, 2 case reports are provided.

Although there are no approved treatments for idiopathic angioedema, several medications used for the treatment of hereditary angioedema, such as bradykinin receptor antagonists (icatibant), kallikrein inhibitors (ecallantide), and C1 inhibitors, were successful in 10 patients. Anti-IgE monoclonal antibody (omalizumab) proved successful in 5 patients. The most widely used and successful medication was tranexamic acid (154 patients).

Despite an unknown etiology, this article highlights viable treatment options for idiopathic angioedema. More clinical trials and better markers identifying the cause of angioedema are needed.

    Idiopathic angioedema
    DIAGNOSIS

 is defined as

    localized swelling of the cutaneous and mucosal tissue
    SYMPTOMS

 that occurs in episodes

    without a clear etiology
    NEG_FINDINGS

. It can be problematic to treat when the underlying pathophysiology is not well understood.

To identify successful treatments of

    idiopathic angioedema
    DIAGNOSIS

 reported in the literature.

A literature search was performed using PubMed. Published case reports and articles discussing treatment of

    idiopathic angioedema
    DIAGNOSIS

 were used in the formulation of this review. In addition, 2 case reports are provided.

Although there are no approved treatments for

    idiopathic angioedema
    DIAGNOSIS

, several medications used for the treatment of

    hereditary angioedema
    DIAGNOSIS

, such as

    bradykinin receptor antagonists (icatibant), kallikrein inhibitors (ecallantide), and C1 inhibitors
    MEDICATION

, were successful in 10 patients.

    Anti-IgE monoclonal antibody (omalizumab)
    MEDICATION

 proved successful in 5 patients. The most widely used and successful medication was

    tranexamic acid
    MEDICATION

 (154 patients).

Despite an unknown etiology, this article highlights viable treatment options for

    idiopathic angioedema
    DIAGNOSIS

. More clinical trials and better markers identifying the cause of

    angioedema
    DIAGNOSIS

 are needed.

Idiopathic angioedema
idiopathic angioedema
idiopathic angioedema
idiopathic angioedema
hereditary angioedema
idiopathic angioedema
angioedema


Death due to obstruction of the upper airways caused by edema of the laryngeal mucosa in the course of hereditary angioedema.

A rare case of death of a young man due to airway obstruction in the course of angioedema (Quincke's edema). Type I hereditary angioedema due to C1 esterase inhibitor deficiency had been diagnosed in the man while he was alive. The information concerning the man's health state was given in the Public Prosecutor's decision ordering medico legal autopsy, which was extremely helpful in recognizing the cause of death.

A rare case of

    death
    SYMPTOMS

 of a

    young
    AGE

    man
    GENDER

 due to

    airway obstruction
    SYMPTOMS

 in the course of

    angioedema (Quincke's edema)
    SYMPTOMS

.

    Type I hereditary angioedema
    DIAGNOSIS

 due to

    C1 esterase inhibitor deficiency
    BIOCHEMICAL

 had been diagnosed in the

    man
    GENDER

 while

    he
    GENDER

 was alive. The information concerning the man's health state was given in the Public Prosecutor's decision ordering

    medico legal autopsy
    PARACLINICAL

, which was extremely helpful in recognizing the cause of

    death
    SYMPTOMS

.

death
airway obstruction
angioedema (Quincke's edema)
death


Refractory Angioedema in a Patient with Systemic Lupus Erythematosus.

Angioedema secondary to C1 inhibitor deficiency has been rarely reported to be associated with systemic lupus erythematosus. A genetic defect of C1 inhibitor produces hereditary angioedema, which is usually presented with cutaneous painless edema, but edema of the genital area, gastrointestinal and laryngeal tracts have also been reported. In lupus patients, angioedema may be the result of an acquired type of C1 inhibitor deficiency, most probably due to antibody formation directed against the C1 inhibitor molecule. Herein we report a new case of lupus nephritis that developed angioedema and a rapid course of disease progression with acute renal failure and alveolar hemorrhage without response to high dose steroid and plasmapheresis.

    Angioedema
    DIAGNOSIS

 secondary to

    C1 inhibitor deficiency
    BIOCHEMICAL

 has been rarely reported to be associated with

    systemic lupus erythematosus
    DIAGNOSIS

. A

    genetic defect of C1 inhibitor
    GENETICS

 produces

    hereditary angioedema
    DIAGNOSIS

, which is usually presented with

    cutaneous painless edema
    SYMPTOMS

, but

    edema of the genital area, gastrointestinal and laryngeal tracts
    SYMPTOMS

 have also been reported. In

    lupus
    DIAGNOSIS

 patients,

    angioedema
    SYMPTOMS

 may be the result of an

    acquired type of C1 inhibitor deficiency
    BIOCHEMICAL

, most probably due to

    antibody formation directed against the C1 inhibitor molecule
    BIOCHEMICAL

. Herein we report a new case of

    lupus nephritis
    DIAGNOSIS

 that developed

    angioedema
    SYMPTOMS

 and a

    rapid course of disease progression
    SYMPTOMS

 with

    acute renal failure
    SYMPTOMS

 and

    alveolar hemorrhage
    SYMPTOMS

    without response to high dose steroid and plasmapheresis
    NEG_FINDINGS

.

Angioedema
systemic lupus erythematosus
hereditary angioedema
lupus
lupus nephritis


HEREDITARY ANGIOEDEMA: A Literature Review and National Management Guidelines.

Hereditary angioedema, a rare and potentially life-threatening condition, is the result of a defect in the C1 esterase inhibitor. Primary care physicians should be familiar with this condition to avoid complications and improve quality of care.

We present two cases of hereditary angioedema followed by a discussion based on a literature review of the recent guidelines and advances in this condition.

To highlight the clinical aspects, diagnosis and treatment of this condition and propose a practical local management based on the available medication.

Hereditary angioedema management is still evolving. More efforts should be made concerning the drug therapy which is very costly and not available worldwide.

    Hereditary angioedema
    DIAGNOSIS

, a rare and potentially life-threatening condition, is the result of a

    defect in the C1 esterase inhibitor
    BIOCHEMICAL

.

    Primary care physicians
    PARACLINICAL

 should be familiar with this condition to avoid complications and improve quality of care.

We present two cases of

    hereditary angioedema
    DIAGNOSIS

 followed by a discussion based on a literature review of the recent guidelines and advances in this condition.

    Hereditary angioedema
    DIAGNOSIS

 management is still evolving. More efforts should be made concerning the

    drug therapy
    MEDICATION

 which is very costly and not available worldwide.

Hereditary angioedema
hereditary angioedema
Hereditary angioedema


Coexistence of hereditary angioedema in a case of familial Mediterranean fever with partial response to colchicine.

Hereditary angioedema (HAE) is a very rare and potentially life-threatening genetic disease characterised by episodes of edema in various parts of the body, including the extremities, face, and airway. The disease is usually associated with attacks of abdominal pain. On the other hand, familial Mediterranean fever (FMF) is an inherited condition characterised by recurrent episodes of painful inflammation in the abdomen, chest, or joints. In this report, we present a child with FMF and undiagnosed HAE, which made him a partial responder to colchicine treatment. Consequently, HAE must be considered in differential diagnosis of cases in which a partial response is obtained from FMF treatment, particularly in countries where FMF is frequently encountered, because early diagnosis of HAE can facilitate prevention of life-threatening complications, such as upper airway obstruction. To our knowledge, our patient is the first patient reported in the literature with the diagnosis of HAE and FMF together.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a very rare and potentially life-threatening

    genetic disease
    GENETICS

 characterised by

    episodes of edema in various parts of the body, including the extremities, face, and airway
    SYMPTOMS

. The disease is usually associated with

    attacks of abdominal pain
    SYMPTOMS

. On the other hand,

    familial Mediterranean fever (FMF)
    DIAGNOSIS

 is an

    inherited
    GENETICS

 condition characterised by

    recurrent episodes of painful inflammation in the abdomen, chest, or joints
    SYMPTOMS

. In this report, we present a

    child
    AGE

 with

    FMF
    DIAGNOSIS

 and

    undiagnosed HAE
    DIAGNOSIS

, which made

    him
    GENDER

 a

    partial
    SYMPTOMS

 responder to

    colchicine treatment
    MEDICATION

. Consequently,

    HAE
    DIAGNOSIS

 must be considered in

    differential diagnosis
    PARACLINICAL

 of cases in which a

    partial response is obtained
    SYMPTOMS

 from

    FMF treatment
    MEDICATION

, particularly in countries where

    FMF
    DIAGNOSIS

 is frequently encountered, because early diagnosis of

    HAE
    DIAGNOSIS

 can facilitate prevention of

    life-threatening complications
    SYMPTOMS

, such as

    upper airway obstruction
    SYMPTOMS

. To our knowledge, our patient is the first patient reported in the literature with the diagnosis of

    HAE and FMF
    DIAGNOSIS

 together.

Hereditary angioedema (HAE)
familial Mediterranean fever (FMF)
FMF
undiagnosed HAE
HAE
FMF
HAE
HAE and FMF


Subcutaneous self-injections of C1 inhibitor: an effective and safe treatment in a patient with hereditary angio-oedema.

A 25-year-old woman presented to our clinic with a history of recurrent swelling and abdominal symptoms for > 20 years. The patient's father was similarly affected. The patient was diagnosed with hereditary angio-oedema (HAE) due to C1 inhibitor deficiency. This was initially managed with systemic androgens, but the symptoms of hyperandrogenism eventually became intolerable. Treatment with icatibant (an antagonist of bradykinin B2 receptors) was partially successful. We changed the therapy to prophylactic treatment with C1 inhibitor. Although the patient became completely symptom-free under this regimen, she found the repeated intravenous injections unacceptable. Therefore, we changed the route of administration to subcutaneous injections of C1 inhibitor 1000 U in 10 mL twice weekly, using a subcutaneous infusion kit. Since that time (December 2013), she has remained completely free of symptoms under this regimen. To our knowledge, this is the first report documenting the efficacy and safety of subcutaneous injections of C1 inhibitor in a patient with HAE.

A

    25-year-old
    AGE

    woman
    GENDER

 presented to our clinic with a history of

    recurrent swelling
    SYMPTOMS

 and

    abdominal symptoms for > 20 years
    SYMPTOMS

.

    The patient's father was similarly affected
    FAMILY

. The patient was diagnosed with

    hereditary angio-oedema (HAE)
    DIAGNOSIS

 due to

    C1 inhibitor deficiency
    BIOCHEMICAL

. This was initially managed with

    systemic androgens
    MEDICATION

, but the

    symptoms of hyperandrogenism
    SYMPTOMS

 eventually became

    intolerable
    SYMPTOMS

.

    Treatment with icatibant (an antagonist of bradykinin B2 receptors)
    MEDICATION

 was partially successful. We changed the

    therapy to prophylactic treatment with C1 inhibitor
    MEDICATION

. Although the patient became

    completely symptom-free
    NEG_FINDINGS

 under this regimen,

    she
    GENDER

    found the repeated intravenous injections unacceptable
    NEG_FINDINGS

. Therefore, we changed the

    route of administration to subcutaneous injections of C1 inhibitor 1000 U in 10 mL twice weekly, using a subcutaneous infusion kit
    MEDICATION

. Since that time (December 2013),

    she
    GENDER

 has remained completely

    free of symptoms
    NEG_FINDINGS

 under this regimen. To our knowledge, this is the first report documenting the efficacy and safety of

    subcutaneous injections of C1 inhibitor
    MEDICATION

 in a patient with

    HAE
    DIAGNOSIS

.

recurrent swelling
abdominal symptoms for > 20 years
symptoms of hyperandrogenism
intolerable


Anaphylaxis due to head injury.

Both anaphylaxis and head injury are often seen in the emergency department, but they are rarely seen in combination. We present a case of a 30-year-old woman who presented with anaphylaxis with urticaria and angioedema following a minor head injury. The patient responded well to intramuscular epinephrine without further complications or airway compromise. Prior case reports have reported angioedema from hereditary angioedema during dental procedures and maxillofacial surgery, but there have not been any cases of first-time angioedema or anaphylaxis due to head injury.

Both

    anaphylaxis
    DIAGNOSIS

 and

    head injury
    SYMPTOMS

 are often seen in the emergency department, but they are rarely seen in combination. We present a case of a

    30-year-old
    AGE

    woman
    GENDER

 who presented with

    anaphylaxis
    SYMPTOMS

 with

    urticaria
    SYMPTOMS

 and

    angioedema
    SYMPTOMS

 following a

    minor head injury
    SYMPTOMS

. The patient responded well to

    intramuscular epinephrine
    MEDICATION

    without further complications or airway compromise
    NEG_FINDINGS

. Prior case reports have reported

    angioedema
    DIAGNOSIS

 from

    hereditary angioedema
    DIAGNOSIS

 during

    dental procedures
    MEDICATION

 and

    maxillofacial surgery
    MEDICATION

, but there have not been any cases of first-time

    angioedema
    DIAGNOSIS

 or

    anaphylaxis
    DIAGNOSIS

 due to

    head injury
    SYMPTOMS

.

anaphylaxis
angioedema
hereditary angioedema
angioedema
anaphylaxis

head injury
anaphylaxis
urticaria
angioedema
minor head injury
head injury

intramuscular epinephrine
dental procedures
maxillofacial surgery


Neurofeedback in Hereditary Angioedema: A Single Case Study of Symptom Reduction.

Neurofeedback training was performed consisting of rewarding and encouraging 12-15 Hz brainwaves (SMR), while simultaneously discouraging 4-7 Hz brainwaves (theta) and 22-30 Hz brainwaves (high beta) in the right dorsal posterior quadrant of the brain (T4, P4) for 20 half-hour NFB sessions to determine the impact on cortisol levels, DHEA-S levels, scores on the Symptom Checklist-90-R (SCL-90-R), the quality of life inventory, and acute attack medication usage for a Hereditary Angioedema patient.

    Neurofeedback training
    MEDICATION

 was performed consisting of

    rewarding and encouraging 12-15 Hz brainwaves (SMR)
    SYMPTOMS

, while simultaneously

    discouraging 4-7 Hz brainwaves (theta) and 22-30 Hz brainwaves (high beta) in the right dorsal posterior quadrant of the brain (T4, P4)
    SYMPTOMS

 for

    20 half-hour NFB sessions
    MEDICATION

 to determine the impact on

    cortisol levels
    BIOCHEMICAL

,

    DHEA-S levels
    BIOCHEMICAL

, scores

    on the Symptom Checklist-90-R (SCL-90-R)
    PARACLINICAL

, the

    quality of life inventory
    SYMPTOMS

, and

    acute attack medication usage
    MEDICATION

 for a

    Hereditary Angioedema
    DIAGNOSIS

 patient.

Neurofeedback training
20 half-hour NFB sessions
acute attack medication usage


Management of acute attacks of hereditary angioedema: role of ecallantide.

Hereditary angioedema (HAE) is characterized as an episodic swelling disorder with autosomal dominant inheritance. Clinical features include nonpitting edema of external or mucosal body surfaces, and patients often present with swelling of the extremities, abdominal pain, and swelling of the mouth and throat, which can lead to asphyxiation. Patients with HAE classically have no associated urticaria, which is often referred to as nonhistaminergic angioedema. Treatment for HAE involves long-term prophylaxis, short-term prophylaxis, and management of acute attacks. Up until the past few years, acute HAE episodes were predominately treated with supportive measures. Three classes of medications have recently been approved by the US Food and Drug Administration (FDA) for the management of acute HAE attacks. Ecallantide, a recombinant protein that acts as a reversible inhibitor of kallikrein, is currently indicated for acute attacks of HAE in those aged ≥12 years. In two randomized, double-blind, placebo-controlled, multicenter trials, EDEMA3 and EDEMA4, patients treated with 30 mg of ecallantide demonstrated statistically significant improvement in symptoms compared to those on placebo. In addition to its use as treatment for HAE, ecallantide has been used off label in the management of nonhistaminergic angioedema, not due to HAE. Ecallantide has shown promise in the treatment of these other forms; however, data are limited to mainly case reports at this time. Ecallantide is generally a safe and well-tolerated medication; however, based on reports of anaphylaxis, ecallantide does contain a black box warning. Due to the risk of anaphylaxis, ecallantide cannot be self-administered and must be given by a health care professional. Overall, ecallantide is a safe and effective medication for the treatment of acute attacks of HAE.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is characterized as an

    episodic swelling disorder
    DIAGNOSIS

 with

    autosomal dominant inheritance
    GENETICS

. Clinical features include

    nonpitting edema of external or mucosal body surfaces
    SYMPTOMS

, and patients often present with

    swelling of the extremities
    SYMPTOMS

,

    abdominal pain
    SYMPTOMS

, and

    swelling of the mouth and throat
    SYMPTOMS

, which can lead to

    asphyxiation
    SYMPTOMS

. Patients with

    HAE
    DIAGNOSIS

 classically have

    no associated urticaria
    NEG_FINDINGS

, which is often referred to as

    nonhistaminergic angioedema
    NEG_FINDINGS

. Treatment for

    HAE
    DIAGNOSIS

 involves

    long-term prophylaxis
    MEDICATION

,

    short-term prophylaxis
    MEDICATION

, and

    management of acute attacks
    MEDICATION

. Up until the past few years,

    acute HAE episodes
    SYMPTOMS

 were predominately treated with

    supportive measures
    MEDICATION

. Three classes

    of medications
    MEDICATION

 have recently been approved by the US Food and Drug Administration (FDA) for the management of

    acute HAE attacks
    DIAGNOSIS

.

    Ecallantide, a recombinant protein that acts as a reversible inhibitor of kallikrein
    MEDICATION

, is currently indicated for

    acute attacks of HAE
    DIAGNOSIS

 in those

    aged ≥12 years
    AGE

. In two randomized, double-blind, placebo-controlled, multicenter trials, EDEMA3 and EDEMA4, patients

    treated with 30 mg of ecallantide
    MEDICATION

 demonstrated

    statistically significant improvement in symptoms
    SYMPTOMS

 compared to those on placebo. In addition to its use as treatment for

    HAE
    DIAGNOSIS

,

    ecallantide
    MEDICATION

 has been used off label in the management of

    nonhistaminergic angioedema
    DIAGNOSIS

,

    not due to HAE
    NEG_FINDINGS

.

    Ecallantide
    MEDICATION

 has shown promise in the treatment of these other forms; however, data are limited to mainly case reports at this time.

    Ecallantide
    MEDICATION

 is generally a safe and well-tolerated

    medication
    MEDICATION

; however, based on reports of

    anaphylaxis
    SYMPTOMS

,

    ecallantide
    MEDICATION

 does contain a black box warning. Due to the risk of

    anaphylaxis
    SYMPTOMS

,

    ecallantide
    MEDICATION

    cannot be self-administered
    NEG_FINDINGS

 and must be given by a health care professional. Overall,

    ecallantide
    MEDICATION

 is a safe and effective medication for the treatment of

    acute attacks of HAE
    DIAGNOSIS

.

Hereditary angioedema (HAE)
episodic swelling disorder
HAE
HAE
acute HAE attacks
acute attacks of HAE
HAE
nonhistaminergic angioedema
acute attacks of HAE

no associated urticaria
nonhistaminergic angioedema
not due to HAE
cannot be self-administered


Cardiac arrest due to airway obstruction in hereditary angioedema.

Hereditary angioedema (HAE) is a rare genetic disease caused by a deficiency of functional C1 esterase inhibitor that causes swelling attacks in various body tissues. We hereby report a case of out-of-hospital cardiac arrest due to airway obstruction in HAE. Cutaneous swelling and abdominal pain attacks caused by gastrointestinal wall swelling are common symptoms in HAE, whereas laryngeal swelling is rare. Emergency physicians may have few chances to experience cases of life-threatening laryngeal edema resulting in a delay from symptom onset to the diagnosis of HAE. Hereditary angioedema is diagnosed by performing complement blood tests. Because safe and effective treatment options are available for the life-threatening swellings in HAE, the diagnosis potentially reduces the risk of asphyxiation in patients and their blood relatives.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a

    rare genetic disease
    GENETICS

 caused by a

    deficiency of functional C1 esterase inhibitor
    BIOCHEMICAL

 that causes

    swelling attacks in various body tissues
    SYMPTOMS

. We hereby report a case of

    out-of-hospital cardiac arrest
    SYMPTOMS

 due to

    airway obstruction
    SYMPTOMS

 in

    HAE
    DIAGNOSIS

.

    Cutaneous swelling
    SYMPTOMS

 and

    abdominal pain attacks
    SYMPTOMS

 caused by

    gastrointestinal wall swelling
    SYMPTOMS

 are common symptoms in

    HAE
    DIAGNOSIS

, whereas

    laryngeal swelling
    SYMPTOMS

 is rare. Emergency physicians may have few chances to experience cases of

    life-threatening laryngeal edema
    SYMPTOMS

 resulting in a delay from symptom onset to the diagnosis of

    HAE
    DIAGNOSIS

.

    Hereditary angioedema
    DIAGNOSIS

 is diagnosed by performing

    complement blood tests
    PARACLINICAL

. Because safe and effective treatment options are available for the

    life-threatening swellings
    SYMPTOMS

 in

    HAE
    DIAGNOSIS

, the diagnosis potentially reduces the risk of

    asphyxiation
    SYMPTOMS

 in patients and their blood relatives.

Hereditary angioedema (HAE)
HAE
HAE
HAE
Hereditary angioedema
HAE


Recurrent intestinal obstruction with acquired angio-oedema, due to C1-esterase inhibitor deficiency.

A 52-year male with past history of ulcerative colitis 20 years back (now in remission), developed recurrent small intestinal obstruction at intervals of a few months. CT scan did not detect the cause initially. A repeat CT scan (USA) showed interbowel fluid with transient ascites (serum albumin normal). Angio-oedema was suspected and low C4 with C1-esterase inhibitor (C1-INH) deficiency confirmed the diagnosis. Further investigation showed he was suffering from a chronic low grade small B cell lymphoma. He was treated with Rituximab 375 mg/m2 at intervals of one week for 4 weeks. He is asymptomatic with Transexamic acid (500 mg TDS) for last 1½ years.

A

    52-year
    AGE

    male
    GENDER

 with past history of

    ulcerative colitis
    DIAGNOSIS

 20 years back (now in

    remission
    MEDICATION

), developed

    recurrent small intestinal obstruction at intervals of a few months
    SYMPTOMS

.

    CT scan did not detect the cause initially
    NEG_FINDINGS

. A

    repeat CT scan (USA)
    PARACLINICAL

 showed

    interbowel fluid
    SYMPTOMS

 with

    transient ascites
    SYMPTOMS

 (

    serum albumin normal)
    NEG_FINDINGS

.

    Angio-oedema
    DIAGNOSIS

 was suspected and

    low C4 with C1-esterase inhibitor (C1-INH) deficiency
    BIOCHEMICAL

 confirmed the diagnosis. Further investigation showed

    he
    GENDER

 was suffering from a

    chronic low grade small B cell lymphoma
    DIAGNOSIS

.

    He
    GENDER

 was treated with

    Rituximab 375 mg/m2 at intervals of one week for 4 weeks
    MEDICATION

.

    He
    GENDER

 is

    asymptomatic
    NEG_FINDINGS

 with

    Transexamic acid (500 mg TDS) for last 1½ years
    MEDICATION

.

ulcerative colitis
Angio-oedema
chronic low grade small B cell lymphoma


[Diagnosis and treatment of hereditary angioedema: clinical illustration and brief literature review].

Hereditary angio-oedema is an autosomal dominant transmitted disease that is characterized by swellings of the subcutaneous or mucosal tissues. The edematous manifestations develop over a few hours and disappear spontaneously in a few days. This disease, which is due to an excess of bradykinine, a peptide that induces vasodilatation and increases vascular permeability, is different from angioedema mediated by histamine (frequently accompanied by urticaria). This difference explains the inefficiency of antiallergic therapies to treat the crises. This condition, although rare, is important to know because it is potentially lethal if the edema leads to laryngeal obstruction. After the report of a clinical example, this paper will consider the pathophysiology and the classification of angio-oedema without urticaria. New therapeutic recommendations for the treatment of hereditary angio-oedema will also be considered.

    Hereditary angio-oedema
    DIAGNOSIS

 is an

    autosomal dominant transmitted
    GENETICS

 disease that is characterized by

    swellings of the subcutaneous or mucosal tissues
    SYMPTOMS

. The

    edematous manifestations
    SYMPTOMS

 develop over a few hours and

    disappear spontaneously
    SYMPTOMS

 in a few days. This disease, which is due to an

    excess of bradykinine, a peptide that induces vasodilatation
    BIOCHEMICAL

 and

    increases vascular permeability
    BIOCHEMICAL

, is different from

    angioedema mediated by histamine
    DIAGNOSIS

 (frequently accompanied by

    urticaria
    DIAGNOSIS

). This difference explains the

    inefficiency of antiallergic therapies to treat the crises
    NEG_FINDINGS

. This condition, although rare, is important to know because it is potentially lethal if the

    edema
    SYMPTOMS

 leads to

    laryngeal obstruction
    SYMPTOMS

. After the report of a clinical example, this paper will consider the pathophysiology and the classification of

    angio-oedema
    DIAGNOSIS

    without urticaria
    NEG_FINDINGS

. New therapeutic recommendations for the treatment of

    hereditary angio-oedema
    DIAGNOSIS

 will also be considered.

Hereditary angio-oedema
angioedema mediated by histamine
urticaria
angio-oedema
hereditary angio-oedema


Angiotensin-converting enzyme inhibitors-induced angioedema treated by C1 esterase inhibitor concentrate (Berinert®): about one case and review of the therapeutic arsenal.

C1 esterase inhibitor (Berinert®) is generally used to treat severe attack of hereditary angioedema. We describe here the case of a patient who presented with a severe angioedema induced by angiotensin-converting enzyme inhibitors (ACEIs) endangering her life. It could be successfully treated with that medicine.

    C1 esterase inhibitor (Berinert®)
    MEDICATION

 is generally used to treat

    severe attack of hereditary angioedema
    DIAGNOSIS

. We describe here the case of a patient who presented with a

    severe angioedema
    SYMPTOMS

 induced by

    angiotensin-converting enzyme inhibitors (ACEIs)
    MEDICATION

    endangering her
    SYMPTOMS

 life. It could be successfully treated with that medicine.


[A case of hereditary angioedema defined by gene analysis].

Hereditary angioedema (HAE) is a disease that is characterized by localized edema that can occur anywhere in the body, and is caused by a mutation of the C1-inhibitor gene. In the oto-rhino-laryngological region, it occurs in the mouth, pharynx, larynx, and on the face. Occasionally, laryngopharyngeal edema can in particular sometimes be fatal. We report herein on a case of a 59-year-old female who was admitted to our hospital for further evaluation and treatment of laryngopharyngeal edema. She had a history of subcutaneous edema during pregnancy and ascites of unknown origin without a definitive diagnosis. On admission, there were low C1 inhibitor and complement C4 levels, and normal C1q levels. As the patient had no family history of HAE, we performed gene analysis, which revealed mutation of the C 1-inhibitor gene in Exon7. In cases of HAE without family history, gene analysis is required for accurate diagnosis.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a disease that is characterized by

    localized edema that can occur anywhere in the body
    SYMPTOMS

, and is caused by a

    mutation of the C1-inhibitor gene
    GENETICS

. In the

    oto-rhino-laryngological region
    SYMPTOMS

, it occurs

    in the mouth, pharynx, larynx
    SYMPTOMS

, and on the face. Occasionally,

    laryngopharyngeal edema
    SYMPTOMS

 can in particular sometimes be

    fatal
    SYMPTOMS

. We report herein on a case of a

    59-year-old
    AGE

    female
    GENDER

 who was admitted to our hospital for further evaluation and treatment of

    laryngopharyngeal edema
    SYMPTOMS

.

    She
    GENDER

 had a history of

    subcutaneous edema during pregnancy
    SYMPTOMS

 and

    ascites of unknown origin
    SYMPTOMS

    without a definitive diagnosis
    NEG_FINDINGS

. On admission, there were

    low C1 inhibitor and complement C4 levels
    BIOCHEMICAL

, and

    normal C1q levels
    NEG_FINDINGS

. As the patient had

    no family history of HAE
    NEG_FINDINGS

, we performed

    gene analysis
    PARACLINICAL

, which revealed

    mutation of the C 1-inhibitor gene in Exon7
    GENETICS

. In cases of

    HAE
    DIAGNOSIS

    without family history
    NEG_FINDINGS

,

    gene analysis
    PARACLINICAL

 is required for accurate diagnosis.

without a definitive diagnosis
normal C1q levels
no family history of HAE
without family history


Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe.

Complement immunodeficiencies (excluding hereditary angioedema and mannose binding lectin deficiency) are rare. Published literature consists largely of case reports and small series. We collated data from 18 cities across Europe to provide an overview of primarily homozygous, rather than partial genotypes and their impact and management.

Patients were recruited through the ESID registry. Clinical and laboratory information was collected onto standardized forms and analyzed using SPSS software.

Seventy-seven patients aged 1 to 68 years were identified. 44 % presented in their first decade of life. 29 % had C2 deficiency, defects in 11 other complement factors were found. 50 (65 %) had serious invasive infections. 61 % of Neisseria meningitidis infections occurred in patients with terminal pathway defects, while 74 % of Streptococcus pneumoniae infections occurred in patients with classical pathway defects (p < 0.001). Physicians in the UK were more likely to prescribe antibiotic prophylaxis than colleagues on the Continent for patients with classical pathway defects. After diagnosis, 16 % of patients suffered serious bacterial infections. Age of the patient and use of prophylactic antibiotics were not associated with subsequent infection risk. Inflammatory/autoimmune diseases were not seen in patients with terminal pathway, but in one third of patients classical and alternative pathway defects.

The clinical phenotypes of specific complement immunodeficiencies vary considerably both in terms of the predominant bacterial pathogen, and the risk and type of auto-inflammatory disease. Appreciation of these phenotypic differences should help both immunologists and other specialists in their diagnosis and management of these rare and complex patients.

    Complement immunodeficiencies
    DIAGNOSIS

 (excluding

    hereditary angioedema
    DIAGNOSIS

 and

    mannose binding lectin deficiency
    DIAGNOSIS

) are rare. Published literature consists largely of case reports and small series. We collated data from 18 cities across

    Europe
    ETHNICITY

 to provide an overview of primarily

    homozygous, rather than partial genotypes
    GENETICS

 and their impact and management.

Patients were recruited through the ESID registry.

    Clinical and laboratory information
    PARACLINICAL

 was collected onto standardized forms and analyzed using

    SPSS software
    PARACLINICAL

.

Seventy-seven patients

    aged 1 to 68 years
    AGE

 were identified. 44 % presented

    in their first decade of life
    AGE

. 29 % had

    C2 deficiency
    BIOCHEMICAL

,

    defects in 11 other complement factors
    BIOCHEMICAL

 were found. 50 (65 %) had

    serious invasive infections
    DIAGNOSIS

. 61 % of

    Neisseria meningitidis infections
    DIAGNOSIS

 occurred in patients with

    terminal pathway defects
    BIOCHEMICAL

, while 74 % of

    Streptococcus pneumoniae infections
    DIAGNOSIS

 occurred in patients with

    classical pathway defects
    DIAGNOSIS

 (p < 0.001). Physicians in the UK were more likely to prescribe

    antibiotic prophylaxis
    MEDICATION

 than colleagues on the Continent for patients with

    classical pathway defects
    DIAGNOSIS

. After diagnosis, 16 % of patients suffered

    serious bacterial infections
    SYMPTOMS

. Age of the patient and use of

    prophylactic antibiotics
    MEDICATION

 were not associated with subsequent infection risk.

    Inflammatory/autoimmune diseases
    DIAGNOSIS

 were not seen in patients with

    terminal pathway
    DIAGNOSIS

, but in one third of patients

    classical and alternative pathway defects
    DIAGNOSIS

.

The clinical phenotypes of specific

    complement immunodeficiencies
    DIAGNOSIS

 vary considerably both in terms of the predominant bacterial pathogen, and the risk and type of

    auto-inflammatory disease
    DIAGNOSIS

. Appreciation of these phenotypic differences should help both

    immunologists
    PARACLINICAL

 and other specialists in their diagnosis and management of these rare and complex patients.

C2 deficiency
defects in 11 other complement factors
terminal pathway defects

antibiotic prophylaxis
prophylactic antibiotics