New mutations in C1 esterase inhibitor (SERPING1) in a German family with hereditary angioedema.

Hereditary angioedema (HAE) is a genetically dominant clinical disorder characterized by recurrent, acute oedema of the skin or mucosa, usually involving the extremities, face, larynx and gastrointestinal tract. C1 inhibitor (C1inh) deficiency is linked to the development of HAE, either by decrease of its plasma level or presence of a dysfunctional protein. The purpose of this study was to identify the genetic abnormality of C1inh in three patients with HAE (mother and her two children). Analysis was carried out using PCR, and direct sequencing of genomic DNA obtained from whole peripheral blood. DNA sequencing of the eight exons of the C1 esterase inhibitor gene (SERPING1) revealed one mutation and one polymorphism in the mother and the two children. The polymorphism was a heterozygous GTG 458 ATG (Val 458 Met) in exon 8 and the mutation was a one-nucleotide deletion in codon 456 in Exon 8. This frameshift mutation (CTC456(power)TC) leads to a 45 amino acid larger protein with altered protein sequence and should be regarded as the causative defect in the patients. It is concluded, that heterozygous frameshift mutation at exon 8 alters the protein sequence of the C1 esterase inhibitor, leading to inactive protein in all three patients analyzed.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a

    genetically dominant
    GENETICS

 clinical disorder characterized by

    recurrent, acute oedema of the skin or mucosa, usually involving the extremities, face, larynx and gastrointestinal tract
    SYMPTOMS

.

    C1 inhibitor (C1inh) deficiency
    BIOCHEMICAL

 is linked to the development of

    HAE
    DIAGNOSIS

, either by

    decrease of its plasma level
    BIOCHEMICAL

 or presence of a

    dysfunctional protein
    BIOCHEMICAL

. The purpose of this study was to identify the

    genetic abnormality of C1inh
    GENETICS

 in three patients with

    HAE
    DIAGNOSIS

 (

    mother
    GENDER

 and her two children). Analysis was carried out using

    PCR, and direct sequencing of genomic DNA obtained from whole peripheral blood
    PARACLINICAL

.

    DNA sequencing of the eight exons of the C1 esterase inhibitor gene (SERPING1)
    PARACLINICAL

 revealed one

    mutation and one polymorphism in the mother and the two children
    FAMILY

. The

    polymorphism was a heterozygous GTG 458 ATG (Val 458 Met) in exon 8 and the mutation was a one-nucleotide deletion in codon 456 in Exon 8
    GENETICS

. This

    frameshift mutation (CTC456(power)TC) leads to a 45 amino acid larger protein with altered protein sequence
    GENETICS

 and should be regarded as the causative defect in the patients. It is concluded, that

    heterozygous frameshift mutation at exon 8 alters the protein sequence of the C1 esterase inhibitor
    GENETICS

, leading to

    inactive protein
    BIOCHEMICAL

 in all three patients analyzed.

C1 inhibitor (C1inh) deficiency
decrease of its plasma level
dysfunctional protein
inactive protein


Oestrogen-dependent hereditary angio-oedema with normal C1 inhibitor: description of six new cases and review of pathogenic mechanisms and treatment.

Hereditary angio-oedema (HAE) is a rare condition in which there is a deficiency in the quantity or activity of C1 inhibitor (C1INH). Recently, an additional type of HAE with no alterations in the levels or the function of C1INH has been reported. It is defined as HAE with normal C1INH, and named type III HAE or oestrogen-dependent HAE. The aim of this study is to describe the clinical and laboratory findings of six new cases of type III HAE and to review the literature about this disease.

A short description of six women with recurrent angio-oedema is provided. The characteristics of the patients are compared with the previously reported case series in a literature-based review.

The mean age of the patients at onset was 22 years (range 16-30). All of them had angio-oedema attacks during oestrogen-based contraceptive treatment and four reported episodes during pregnancy. Four patients reported a positive past family history. Two of them had experienced episodes of laryngeal oedema. None of the patients responded to corticoids or antihistamines during the attacks. Levels and functional activity of C1INH were within the normal range in all cases.

Clinical and laboratory findings mirror the observations of previous reports of oestrogen-dependent angio-oedema with normal C1INH. This is the first published series of type III HAE in Spain.

    Hereditary angio-oedema (HAE)
    DIAGNOSIS

 is a rare condition in which there is a

    deficiency in the quantity or activity of C1 inhibitor (C1INH)
    BIOCHEMICAL

. Recently, an additional type of

    HAE
    DIAGNOSIS

 with

    no alterations in the levels or the function of C1INH
    NEG_FINDINGS

 has been reported. It is defined as

    HAE
    DIAGNOSIS

 with

    normal C1INH
    NEG_FINDINGS

, and named

    type III HAE
    DIAGNOSIS

 or

    oestrogen-dependent HAE
    DIAGNOSIS

. The aim of this study is to describe the clinical and laboratory findings of six new cases of

    type III HAE
    DIAGNOSIS

 and to review the literature about this disease.

A short description of six

    women
    GENDER

 with

    recurrent angio-oedema
    SYMPTOMS

 is provided. The characteristics of the patients are compared with the previously reported case series in a literature-based review.

The

    mean age of
    AGE

 the patients

    at onset was 22 years (range 16-30)
    AGE

. All of them had

    angio-oedema attacks
    SYMPTOMS

 during

    oestrogen-based contraceptive treatment
    MEDICATION

 and four reported episodes during

    pregnancy
    DIAGNOSIS

. Four patients reported a

    positive past family history
    FAMILY

. Two of them had experienced

    episodes of laryngeal oedema
    SYMPTOMS

.

    None
    NEG_FINDINGS

 of the patients

    responded to corticoids or antihistamines during the attacks
    NEG_FINDINGS

.

    Levels and functional activity of C1INH were within the normal range
    BIOCHEMICAL

 in all cases.

Clinical and laboratory findings mirror the observations of previous reports of

    oestrogen-dependent angio-oedema
    SYMPTOMS

 with

    normal C1INH
    NEG_FINDINGS

. This is the first published series of

    type III HAE
    DIAGNOSIS

 in

    Spain
    ETHNICITY

.

Hereditary angio-oedema (HAE)
HAE
HAE
type III HAE
oestrogen-dependent HAE
type III HAE
pregnancy
type III HAE

recurrent angio-oedema
angio-oedema attacks
episodes of laryngeal oedema
oestrogen-dependent angio-oedema


Emergency management of upper airway angio-oedema after routine dental extraction in a patient with C1 esterase deficiency.

Hereditary angio-oedema is rare and potentially life-threatening, being characterised by recurrent episodes of perioral or laryngeal oedema. We describe a 28-year-old woman who developed stridor, orofacial swelling, and drooling several hours after a routine dental extraction. This was initially diagnosed as a spreading dental infection. Only after early oral and maxillofacial review and taking a thorough family history was C1 esterase-inhibitor deficiency diagnosed. She was immediately given C1 esterase-inhibitor concentrate, made a complete recovery and was discharged next day.

    Hereditary angio-oedema
    DIAGNOSIS

 is rare and potentially life-threatening, being characterised by

    recurrent episodes of perioral or laryngeal oedema
    SYMPTOMS

. We describe a

    28-year-old
    AGE

    woman
    GENDER

 who developed

    stridor
    SYMPTOMS

,

    orofacial swelling
    SYMPTOMS

, and

    drooling
    SYMPTOMS

 several hours after a

    routine dental extraction
    MEDICATION

. This was initially diagnosed as a

    spreading dental infection
    DIAGNOSIS

. Only after

    early oral and maxillofacial review
    PARACLINICAL

 and taking a thorough

    family history
    PARACLINICAL

 was

    C1 esterase-inhibitor deficiency
    BIOCHEMICAL

 diagnosed.

    She
    GENDER

 was immediately given

    C1 esterase-inhibitor concentrate
    MEDICATION

, made a

    complete recovery
    SYMPTOMS

 and was discharged next day.

Hereditary angio-oedema
spreading dental infection

routine dental extraction
C1 esterase-inhibitor concentrate


Hereditary angioedema: a Taiwanese family with a novel gene mutation.

Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a deficiency of C1 esterase inhibitor (C1-INH). Affected individuals have attacks of swelling involving almost any part of the body. We studied a family with 15 living members, including a 16-year-old girl who had 3 attacks of angioedema in 2 years. Her paternal uncle had died of asphyxiation during an attack 15 years previously. We analyzed the blood of each family member for C3, C4, and C1-INH levels and sequenced the SERPING1 (formerly C1NH) gene that codes for C1-INH. Six individuals had decreased serum levels of C4 and C1-INH, and they were all found to have a single nucleotide A deletion at codon 210 of the gene, 1210fsX210, a novel mutation that accounts for the HAE in this family.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is an

    autosomal dominant disorder
    GENETICS

 caused by a

    deficiency of C1 esterase inhibitor (C1-INH)
    BIOCHEMICAL

. Affected individuals have

    attacks of swelling involving almost any part of the body
    SYMPTOMS

. We studied a family with 15 living members, including a

    16-year-old
    AGE

    girl
    GENDER

 who had

    3 attacks of angioedema in 2 years
    SYMPTOMS

.

    Her
    GENDER

    paternal uncle had died of asphyxiation during an attack 15 years previously
    FAMILY

. We

    analyzed the blood of each family member for C3, C4, and C1-INH levels
    PARACLINICAL

 and

    sequenced the SERPING1 (formerly C1NH) gene that codes for C1-INH
    PARACLINICAL

. Six individuals had

    decreased serum levels of C4 and C1-INH
    BIOCHEMICAL

, and they were all found to have a

    single nucleotide A deletion at codon 210 of the gene, 1210fsX210, a novel mutation
    GENETICS

 that accounts for the

    HAE
    DIAGNOSIS

 in this family.


Intracranial hypertension associated with danazol withdrawal: a case report.

Pseudotumor cerebri (PTC) is a seldom seen entity characterized by signs and symptoms associated with the intracranial hypertension (IH) without obvious causes. Some medical disorders and exogenous agents have been implicated in the development of PTC. Danazol is a popular gonadotropin inhibitor used for the treatment of endometriosis, breast disease and hereditary angioedema. While PTC has been occasionally reported in patients receiving danazol treatment, it is barely mentioned in those who discontinued danazol therapy abruptly. Here we report a case of IH developed soon after the withdrawal of danazol.

    Pseudotumor cerebri (PTC)
    DIAGNOSIS

 is a seldom seen entity characterized by

    signs and symptoms associated with the intracranial hypertension (IH)
    SYMPTOMS

    without obvious causes
    NEG_FINDINGS

. Some medical disorders and

    exogenous agents
    MEDICATION

 have been implicated in the development of

    PTC
    DIAGNOSIS

.

    Danazol
    MEDICATION

 is a popular

    gonadotropin inhibitor
    MEDICATION

 used for the treatment of

    endometriosis
    DIAGNOSIS

,

    breast disease
    DIAGNOSIS

 and

    hereditary angioedema
    DIAGNOSIS

. While

    PTC
    DIAGNOSIS

 has been occasionally reported in patients receiving

    danazol treatment
    MEDICATION

, it is barely mentioned in those who

    discontinued danazol therapy abruptly
    MEDICATION

. Here we report a case of

    IH
    DIAGNOSIS

 developed soon after the

    withdrawal of danazol
    MEDICATION

.

Pseudotumor cerebri (PTC)
PTC
endometriosis
breast disease
hereditary angioedema
PTC
IH

exogenous agents
Danazol
gonadotropin inhibitor
danazol treatment
discontinued danazol therapy abruptly
withdrawal of danazol


Hereditary angioedema: a case study.

Hereditary angioedema (HAE) is a condition that results from an autosomal dominant trait. It manifests as attacks of swelling involving the extremities, trunk, abdominal viscera, face, neck, or airway. The attacks may occur spontaneously, without any identifiable trigger, or may be the result of a specific trigger, such as a minor tissue trauma. The symptoms of an attack range from abdominal discomfort to a swelling of the upper extremities to a laryngeal edema that can lead to severe airway obstruction. Therapy for HAE can be divided into three distinct phases: treatment for acute attacks, short-term prophylaxis, and long-term prophylaxis. Treatment for an acute attack is largely supportive, including administration of epinephrine and antihistamines to maintain a patent, reliable airway. Shortterm prophylaxis includes fresh frozen plasma and corticosteroids. Long-term prophylaxis includes use of androgens and antifibrinolytics, as well as the avoidance of known triggers. Prior to the advent of such therapies, mortality from an acute attack of HAE was reported as high as 30%. Repeated episodes of unexplained cutaneous edema or abdominal discomfort may be caused by HAE. The nurse's role focuses on prevention of complications and supportive care, as well as education of the patient to minimize risk factors that may cause further episodes.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a condition that results from an

    autosomal dominant trait
    GENETICS

. It manifests as

    attacks of swelling involving the extremities, trunk, abdominal viscera, face, neck, or airway
    SYMPTOMS

. The attacks may occur spontaneously,

    without any identifiable trigger
    NEG_FINDINGS

, or may be the result of a specific trigger, such as a

    minor tissue trauma
    SYMPTOMS

. The symptoms of an attack range from

    abdominal discomfort
    SYMPTOMS

 to a

    swelling of the upper extremities
    SYMPTOMS

 to a

    laryngeal edema
    SYMPTOMS

 that can lead to

    severe airway obstruction
    SYMPTOMS

. Therapy for

    HAE
    DIAGNOSIS

 can be divided into three distinct phases:

    treatment for acute attacks
    MEDICATION

,

    short-term prophylaxis
    MEDICATION

, and

    long-term prophylaxis
    MEDICATION

. Treatment for an

    acute attack
    SYMPTOMS

 is largely supportive, including

    administration of epinephrine and antihistamines
    MEDICATION

 to maintain a

    patent, reliable airway
    SYMPTOMS

.

    Shortterm prophylaxis includes fresh frozen plasma and corticosteroids
    MEDICATION

.

    Long-term prophylaxis
    MEDICATION

 includes

    use of androgens and antifibrinolytics
    MEDICATION

, as well as the

    avoidance of known triggers
    MEDICATION

. Prior to the advent of such therapies, mortality from an

    acute attack of HAE
    DIAGNOSIS

 was reported as high as 30%.

    Repeated episodes of unexplained cutaneous edema or abdominal discomfort
    SYMPTOMS

 may be caused by

    HAE
    DIAGNOSIS

. The nurse's role focuses on prevention of complications and

    supportive care
    MEDICATION

, as well as education of the patient to minimize risk factors that may cause further episodes.

Hereditary angioedema (HAE)
HAE
acute attack of HAE
HAE


Paternal mosaicism and hereditary angioedema in a Taiwanese family.

Hereditary angioedema (HAE) is a rare disorder characterized by recurrent attacks of localized subcutaneous or submucosal edema. It is inherited in an autosomal dominant fashion and caused by a deficiency of C1 inhibitor (C1 INH). Most patients with HAE have an absolute deficiency of C1 INH (type I HAE), whereas the rest (approximately 15%) synthesize a dysfunctional C1 INH protein (type II HAE). Mosaicism is rare in HAE.

To describe the clinical manifestations, laboratory findings, and molecular genetic studies in a Taiwanese family with type I HAE with paternal mosaicism.

A family that included a 34-year-old man (index patient) and his 25-year-old brother who both had recurrent peripheral angioedema was evaluated. A younger sister had died of an unexplained cause at 18 years of age. We analyzed blood levels of C3, C4, and C1 INH and sequenced the SERPING] (C1NH) gene that codes for C1 INH in 5 family members, including the parents and 3 brothers.

The 4 men in the family had a novel mutation c.3_73del, p.N1fsX34 in exon 3 of the C1INH gene, resulting in C1 INH deficiency. Although the father carried this mutant gene, he had normal serum levels of C1 INH. Based on quantitative analysis of allele dosage by DNA fragment analysis (GeneScan), the father was determined to have genetic mosaicism.

Parental mosaicism is a possible explanation for normal C1 INH plasma concentrations in both parents despite clinically apparent HAE in the children.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a rare disorder characterized by

    recurrent attacks of localized subcutaneous or submucosal edema
    SYMPTOMS

. It is

    inherited in an autosomal dominant fashion
    GENETICS

 and caused by a

    deficiency of C1 inhibitor (C1 INH)
    BIOCHEMICAL

. Most patients with

    HAE
    DIAGNOSIS

 have an

    absolute deficiency of C1 INH
    BIOCHEMICAL

 (

    type I HAE
    DIAGNOSIS

), whereas the rest (approximately 15%)

    synthesize a dysfunctional C1 INH protein
    BIOCHEMICAL

 (

    type II HAE)
    DIAGNOSIS

.

    Mosaicism
    GENETICS

 is rare in

    HAE
    DIAGNOSIS

.

To describe the clinical manifestations,

    laboratory findings
    PARACLINICAL

, and

    molecular genetic studies
    PARACLINICAL

 in a

    Taiwanese
    ETHNICITY

    family with type I HAE
    FAMILY

 with

    paternal mosaicism
    GENETICS

.

A

    family that included
    FAMILY

 a

    34-year-old
    AGE

    man
    GENDER

 (index patient) and his

    25-year-old
    AGE

    brother
    GENDER

    who both had recurrent peripheral angioedema
    FAMILY

 was evaluated. A

    younger sister had died of an unexplained cause at 18 years of age
    FAMILY

. We

    analyzed blood levels of C3, C4, and C1 INH
    BIOCHEMICAL

 and

    sequenced the SERPING] (C1NH) gene that codes for C1 INH
    PARACLINICAL

 in 5 family members, including the parents and 3

    brothers
    GENDER

.

The 4

    men
    GENDER

 in the family had a

    novel mutation c.3_73del, p.N1fsX34 in exon 3 of the C1INH gene
    GENETICS

, resulting in

    C1 INH deficiency
    BIOCHEMICAL

.

    Although the father carried this mutant gene
    FAMILY

,

    he
    GENDER

 had

    normal serum levels of C1 INH
    NEG_FINDINGS

. Based on

    quantitative analysis of allele dosage by DNA fragment analysis (GeneScan)
    PARACLINICAL

, the

    father
    GENDER

 was determined

    to have genetic mosaicism
    FAMILY

.

    Parental mosaicism
    GENETICS

 is a possible explanation for

    normal C1 INH plasma concentrations in both parents despite clinically apparent HAE in the children
    NEG_FINDINGS

.

Hereditary angioedema (HAE)
HAE
type I HAE
type II HAE)
HAE


Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency.

C1q deficiency is a rare inherited defect in the early part of the complement cascade. In this report, we describe the varied clinical features of patients with this condition as well as the characteristic autoantibody profile.

A large Pakistani family with a high degree of consanguinity is described in which the father and five sons have C1q deficiency, all with different clinical manifestations.

Clinical features of C1q deficiency can vary from almost no disease to fulminant bacterial infection and localized lupus-like skin, renal or CNS disease. Autoantibodies to ribonucleoproteins such as anti-Sm and Ro, but not dsDNA, were present.

Awareness of the spectrum of clinical disease, autoantibody profiles and tests required to confirm the diagnosis of C1q deficiency are important if this life-threatening immunodeficiency disease is to be managed correctly.

    C1q deficiency
    BIOCHEMICAL

 is a

    rare inherited defect in the early part of the complement cascade
    GENETICS

. In this report, we describe the varied clinical features of patients with this condition as well as the characteristic

    autoantibody profile
    BIOCHEMICAL

.

A large

    Pakistani
    ETHNICITY

    family with a high degree of consanguinity
    FAMILY

 is described in which

    the father and five sons have C1q deficiency
    FAMILY

, all with different clinical manifestations.

Clinical features of

    C1q deficiency
    BIOCHEMICAL

 can vary from

    almost no disease
    NEG_FINDINGS

 to

    fulminant bacterial infection
    DIAGNOSIS

 and

    localized lupus-like skin, renal or CNS disease
    SYMPTOMS

.

    Autoantibodies to ribonucleoproteins such as anti-Sm and Ro, but not dsDNA, were present
    BIOCHEMICAL

.

Awareness of the spectrum of clinical disease,

    autoantibody profiles
    PARACLINICAL

 and tests required to confirm the diagnosis of

    C1q deficiency
    BIOCHEMICAL

 are important if this

    life-threatening immunodeficiency disease
    DIAGNOSIS

 is to be managed correctly.


Gastrointestinal involvement in a case of hereditary angioedema: could the early weaning have had a role?

Hereditary angioedema (HAE) is a noninflammatory disorder due to reduced C1-inhibitor level and/or function and characterized by recurrent, circumscribed, and self-limiting episodes of cutaneous and mucous membrane swellings involving different organs. A heterogeneous group of mutations in the C1-inhibitor gene have been found. HAE might present with diverse clinical pictures, even within families with the same mutation, but the cause of this variability is not known yet. We describe the case of type II HAE in a young adult presenting with recurrent abdominal pain for many years, occasionally associated with ascites. We suppose that an early weaning might have influenced his phenotype, making his gastrointestinal tract a "vulnerable organ," in which hereditary angioedema could express itself.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a

    noninflammatory disorder
    DIAGNOSIS

 due to

    reduced C1-inhibitor level and/or function
    BIOCHEMICAL

 and characterized by

    recurrent, circumscribed, and self-limiting episodes of cutaneous and mucous membrane swellings involving different organs
    SYMPTOMS

. A

    heterogeneous group of mutations in the C1-inhibitor gene
    GENETICS

 have been found.

    HAE
    DIAGNOSIS

 might present with diverse clinical pictures, even within

    families with the same mutation
    FAMILY

, but the cause of this variability is not known yet. We describe the case of

    type II HAE
    DIAGNOSIS

 in a

    young adult
    AGE

 presenting with

    recurrent abdominal pain for many years
    SYMPTOMS

, occasionally associated with

    ascites
    SYMPTOMS

. We suppose that an

    early weaning
    AGE

 might have influenced his phenotype, making his

    gastrointestinal tract
    SYMPTOMS

 a "vulnerable organ," in which

    hereditary angioedema
    SYMPTOMS

 could express itself.

Hereditary angioedema (HAE)
noninflammatory disorder
HAE
type II HAE


Effective treatment of hereditary angioedema with fresh frozen plasma in an emergency department.

Hereditary angioedema (HAE) is a rarely seen disorder of C1 inhibitor (C1-INH) deficiency usually manifested by non-pruritic swelling of the skin. Acute exacerbations are not sensitive to conventional medications, and C1-esterase inhibitor concentrates are recommended as the first-line therapy. However, fresh frozen plasma is the main treatment alternative in many centers due to the lack of C1-esterase inhibitor concentrates. In this report, we present 3 patients with acute exacerbations of hereditary angioedema who were effectively and safely treated with fresh frozen plasma.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a rarely seen disorder of

    C1 inhibitor (C1-INH) deficiency
    BIOCHEMICAL

 usually manifested by

    non-pruritic swelling of the skin
    SYMPTOMS

.

    Acute exacerbations
    SYMPTOMS

 are

    not sensitive to conventional medications
    NEG_FINDINGS

, and

    C1-esterase inhibitor concentrates
    MEDICATION

 are recommended as the first-line therapy. However,

    fresh frozen plasma
    MEDICATION

 is the main treatment alternative in many centers due to the lack of

    C1-esterase inhibitor concentrates
    NEG_FINDINGS

. In this report, we present 3 patients with

    acute exacerbations
    SYMPTOMS

 of

    hereditary angioedema
    DIAGNOSIS

 who were effectively and safely treated with

    fresh frozen plasma
    MEDICATION

.

Hereditary angioedema (HAE)
hereditary angioedema

non-pruritic swelling of the skin
Acute exacerbations
acute exacerbations

C1-esterase inhibitor concentrates
fresh frozen plasma
fresh frozen plasma


Hereditary angioedema and pregnancy.

Hereditary Angioedema is a rare but potentially life threatening condition. It is important that Obstetricians are aware of this condition as it affects women in the reproductive years and thus its recognition and proper management in pregnancy is crucial.

    Hereditary Angioedema
    DIAGNOSIS

 is a rare but potentially life threatening condition. It is important that Obstetricians are aware of this condition as it affects

    women
    GENDER

    in the reproductive years
    AGE

 and thus its recognition and proper management in

    pregnancy
    AGE

 is crucial.


Successful management with C1-inhibitor concentrate of hereditary angioedema attacks during two successive pregnancies: a case report.

[corrected] Hereditary angioedema (HAE) is a rare genetic disorder caused by a deficiency of the plasma protein C1 inhibitor (C1-INH). HAE is characterised by the onset of angioedema, which may develop in one or several organs, and may last from a few hours to several days. Oedema of the upper airway can be life-threatening. As a result of hormonal changes, some women experience more frequent angioedema attacks during pregnancy. During pregnancy, antifibrinolytic agents should only be used with caution, and attenuated androgens are contraindicated; therefore, replacement therapy with C1-INH concentrate represents one of few therapeutic options, but it is not widely documented.

We report the first case study of the successful management with regular infusions of C1-INH concentrate, of two successive pregnancies in a patient with HAE. During the second half of the first pregnancy, C1-INH was administered on demand at home. For the second pregnancy, on demand treatment was intensified to prophylactic therapy, with once or twice weekly infusions from the middle of the second trimester in order to efficiently control the frequent attacks.

This report illustrates that HAE can be successfully managed during pregnancy with C1-INH infusions at home. Since the number of crises may vary between pregnancies, the treatment regimen must be adapted to the patient's need.

[corrected]

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a

    rare genetic disorder
    GENETICS

 caused by a

    deficiency of the plasma protein C1 inhibitor (C1-INH)
    BIOCHEMICAL

.

    HAE
    DIAGNOSIS

 is characterised by the onset of

    angioedema, which may develop in one or several organs
    SYMPTOMS

, and may last from a few hours to several days.

    Oedema of the upper airway
    SYMPTOMS

 can be

    life-threatening
    SYMPTOMS

. As a result of

    hormonal changes
    SYMPTOMS

, some

    women
    GENDER

 experience more frequent

    angioedema attacks
    SYMPTOMS

 during

    pregnancy
    AGE

. During

    pregnancy
    AGE

,

    antifibrinolytic agents
    MEDICATION

 should only be used with caution, and

    attenuated androgens are contraindicated
    NEG_FINDINGS

; therefore,

    replacement therapy with C1-INH concentrate
    MEDICATION

 represents one of few therapeutic options, but it is not widely documented.

We report the first case study of the

    successful management with regular infusions of C1-INH concentrate, of two successive pregnancies
    MEDICATION

 in a patient with

    HAE
    DIAGNOSIS

.

    During the second half of the first pregnancy
    MEDICATION

,

    C1-INH was administered on demand at home
    MEDICATION

. For the second

    pregnancy
    MEDICATION

,

    on demand treatment was intensified to prophylactic therapy, with once or twice weekly infusions from the middle of the second trimester
    MEDICATION

 in order to efficiently

    control the frequent attacks
    SYMPTOMS

.

This report illustrates that

    HAE
    DIAGNOSIS

 can be successfully managed during

    pregnancy
    DIAGNOSIS

 with

    C1-INH infusions at home
    MEDICATION

. Since the number of crises may vary between pregnancies, the treatment regimen must be adapted to the patient's need.

Hereditary angioedema (HAE)
HAE
HAE
HAE
pregnancy


[Can one propose aesthetic surgery to one male or female patient with an hereditary angio-oedema?].

The hereditary angio-oedema (HAE) is a rare disease characterised by the occurrence of spontaneous or secondary, subcutaneous and submucosal swellings within any part of the body and especially in the upper respiratory tract. Surgery, due to the stress and the oro-tracheal intubation is a high risk situation for severe attack occurrence that may engage the patient life. This explains reluctance for surgeons and anesthesiologists to perform surgical operations in these patients. We think that efficiency of the prophylaxis and the emergency care for acute attacks can allow them to propose to these patients, plastic and aesthetic surgery in optimal security conditions. Androgens represent the main part of HAE prophylaxis treatment but usually cause masculinization in the females. We report this case of a woman, affected by HAE, treated by danazol: Danatrol for long-term prophylaxis who developed a mammary hypotrophy for which she was desirous to correct with breast implant. This surgery provided good morphological results without complication and was enabled to increase the observance of the prophylaxis treatment. Through this case report we lend a practical view of the surgery management of these patients affected by hereditary angio-oedema.

The

    hereditary angio-oedema (HAE)
    DIAGNOSIS

 is a rare disease characterised by the occurrence of

    spontaneous or secondary, subcutaneous and submucosal swellings within any part of the body and especially in the upper respiratory tract
    SYMPTOMS

.

    Surgery
    MEDICATION

, due to the stress and the

    oro-tracheal intubation
    MEDICATION

 is a high risk situation for severe attack occurrence that may engage the patient life. This explains reluctance for surgeons and anesthesiologists to perform

    surgical operations
    MEDICATION

 in these patients. We think that efficiency of the prophylaxis and the emergency care for

    acute attacks
    SYMPTOMS

 can allow them to propose to these patients,

    plastic and aesthetic surgery
    MEDICATION

 in optimal security conditions.

    Androgens
    MEDICATION

 represent the main part of

    HAE prophylaxis treatment
    DIAGNOSIS

 but usually cause

    masculinization
    SYMPTOMS

 in the

    females
    GENDER

. We report this case of a

    woman
    GENDER

, affected by

    HAE
    DIAGNOSIS

, treated by

    danazol: Danatrol for long-term prophylaxis
    MEDICATION

 who developed a

    mammary hypotrophy
    SYMPTOMS

 for which

    she
    GENDER

 was desirous to correct with

    breast implant
    MEDICATION

. This

    surgery
    MEDICATION

 provided

    good morphological results
    SYMPTOMS

    without complication
    NEG_FINDINGS

 and was enabled to increase the observance of the

    prophylaxis treatment
    MEDICATION

. Through this case report we lend a practical view of the surgery management of these patients affected by

    hereditary angio-oedema
    DIAGNOSIS

.

hereditary angio-oedema (HAE)
HAE prophylaxis treatment
HAE
hereditary angio-oedema


A successful pregnancy and uncomplicated labor with C1INH concentrate prophylaxis in a patient with hereditary angioedema.

Patients with hereditary angioedema (HAE) need a special concern during pregnancy. Although, the disease has a relatively benign course during pregnancy, maternal mortality has been reported. We present a HAE patient with recurrent attacks during pregnancy, but uncomplicated labor under C1INH concentrate prophylaxis.

Patients with

    hereditary angioedema (HAE)
    DIAGNOSIS

 need a special concern during

    pregnancy
    AGE

. Although, the disease has a relatively benign course during

    pregnancy
    DIAGNOSIS

,

    maternal mortality
    SYMPTOMS

 has been reported. We present a

    HAE
    DIAGNOSIS

 patient with

    recurrent attacks during pregnancy
    SYMPTOMS

, but

    uncomplicated labor
    SYMPTOMS

 under

    C1INH concentrate prophylaxis
    MEDICATION

.

hereditary angioedema (HAE)
pregnancy
HAE

maternal mortality
recurrent attacks during pregnancy
uncomplicated labor


A case of angioedema associated with decreased C1 inhibitor activity.

We report a case of a 31-year-old woman who began to notice swelling of her arms at age 20. She was once given a diagnosis of cellulitis, but her symptoms spontaneously resolved. The patient had swelling of the left forearm and palm and was referred to our department for evaluation. She had slight pain but no obvious weight gain.

Antinuclear antibody and other autoantibodies, including anti-ds-DNA antibody, anti-RNP antibody, anti-Sm antibody, and anti-SS-A antibody were not detected. C1 inhibitor activity was low, C3 was normal, C4 was low, CH(50) was low, and C1q was normal.

Based on the presence of the typical clinical features and the positive results on the complement tests, we diagnosed hereditary angioedema. A decrease in C1 inhibitor activity and an increase in specific protein concentrations indicated type 1.

We report a case of a

    31-year-old
    AGE

    woman
    GENDER

 who began to notice

    swelling of her arms
    SYMPTOMS

 at

    age 20
    AGE

.

    She
    GENDER

 was once given a diagnosis of

    cellulitis
    DIAGNOSIS

, but

    her
    GENDER

    symptoms spontaneously resolved
    NEG_FINDINGS

. The patient had

    swelling of the left forearm and palm
    SYMPTOMS

 and was referred to our department for evaluation.

    She
    GENDER

 had

    slight pain
    SYMPTOMS

 but

    no obvious weight gain
    NEG_FINDINGS

.

    Antinuclear antibody and other autoantibodies, including anti-ds-DNA antibody, anti-RNP antibody, anti-Sm antibody, and anti-SS-A antibody were not detected
    NEG_FINDINGS

.

    C1 inhibitor activity was low
    BIOCHEMICAL

,

    C3 was normal
    BIOCHEMICAL

,

    C4 was low, CH(50) was low
    BIOCHEMICAL

, and

    C1q was normal
    NEG_FINDINGS

.

Based on the

    presence of the typical clinical features
    SYMPTOMS

 and the

    positive results on the complement tests
    BIOCHEMICAL

, we diagnosed

    hereditary angioedema
    DIAGNOSIS

.

    A decrease in C1 inhibitor activity and an increase in specific protein concentrations
    BIOCHEMICAL

 indicated

    type 1
    DIAGNOSIS

.


Hereditary angioedema presenting in late middle age after angiotensin-converting enzyme inhibitor treatment.

Angioedema due to Cl esterase inhibitor (CI-INH) deficiency may be hereditary (HAE), commonly first occurring in childhood, or acquired (AAE), with onset usually in middle age. Type I HAE exhibits low levels of functionally normal C1-INH. Dysfunctional Cl-INH typifies type II HAE. Patients with type I AAE have low levels of Cl-INH, Clq complement, and C4 complement. In type II AAE, there is immune blockade of C1-INH.

To describe a man who first presented at the age of 52 years with type I HAE triggered by the administration of an angiotensin-converting enzyme (ACE) inhibitor.

The patient had C1-INH levels, a complement profile, and a lack of underlying co-pathology that led to the diagnosis of type I HAE triggered by the administration of an ACE inhibitor.

The patient presented with life-threatening angioedema. His C4 complement and Cl-INH serum levels were below the reference ranges, and his C3 complement, total hemolytic complement assay, and Clq complement levels remained within the reference ranges. During the 10 years between his initial episode of angioedema and the second, he had not developed any secondary medical conditions, and he had been taking the ACE inhibitor lisinopril for 7 years.

Physicians must remain aware of the possibility of unmasking HAE in the adult and geriatric population with the common use of ACE inhibitors for the treatment of hypertension, cardiovascular diseases, and metabolic diseases.

    Angioedema
    DIAGNOSIS

 due to

    Cl esterase inhibitor (CI-INH) deficiency
    BIOCHEMICAL

 may be

    hereditary
    GENETICS

    (HAE)
    DIAGNOSIS

, commonly first occurring in

    childhood
    AGE

, or

    acquired (AAE)
    DIAGNOSIS

, with onset usually in

    middle age
    AGE

.

    Type I HAE
    DIAGNOSIS

 exhibits

    low levels of functionally normal C1-INH
    BIOCHEMICAL

.

    Dysfunctional Cl-INH
    BIOCHEMICAL

 typifies

    type II HAE
    DIAGNOSIS

. Patients with

    type I AAE
    DIAGNOSIS

 have

    low levels of Cl-INH, Clq complement, and C4 complement
    BIOCHEMICAL

. In

    type II AAE
    DIAGNOSIS

, there is

    immune blockade of C1-INH
    BIOCHEMICAL

.

To describe a

    man
    GENDER

 who first presented at the

    age of 52 years
    AGE

 with

    type I HAE
    DIAGNOSIS

 triggered by the

    administration of an angiotensin-converting enzyme (ACE) inhibitor
    MEDICATION

.

The patient had

    C1-INH levels
    BIOCHEMICAL

, a

    complement profile
    BIOCHEMICAL

, and a

    lack of underlying co-pathology
    NEG_FINDINGS

 that led to the diagnosis of

    type I HAE
    DIAGNOSIS

 triggered by the

    administration of an ACE inhibitor
    MEDICATION

.

The patient presented with

    life-threatening angioedema
    SYMPTOMS

.

    His
    GENDER

    C4 complement and Cl-INH serum levels were below the reference ranges
    BIOCHEMICAL

, and his

    C3 complement, total hemolytic complement assay, and Clq complement levels remained within the reference ranges
    BIOCHEMICAL

. During the 10 years between his initial episode of

    angioedema
    SYMPTOMS

 and the second,

    he
    GENDER

 had

    not developed any secondary medical conditions
    NEG_FINDINGS

, and

    he
    GENDER

 had been

    taking the ACE inhibitor lisinopril for 7 years
    MEDICATION

.

Physicians must remain aware of the possibility of unmasking

    HAE
    DIAGNOSIS

 in the

    adult
    AGE

 and

    geriatric
    AGE

 population with the common use of

    ACE inhibitors
    MEDICATION

 for the treatment of

    hypertension
    DIAGNOSIS

,

    cardiovascular diseases
    DIAGNOSIS

, and

    metabolic diseases
    DIAGNOSIS

.

Angioedema
(HAE)
acquired (AAE)
Type I HAE
type II HAE
type I AAE
type II AAE
type I HAE
type I HAE
HAE
hypertension
cardiovascular diseases
metabolic diseases


Unilateral lacrimal gland atrophy in a patient with hereditary angioedema.

To report a case of unilateral lacrimal gland atrophy in a patient with hereditary angioedema (HAE).

Observational case report with literature review.

A 32-year-old woman with HAE presented with dryness and irritation of the left eye (OS). Investigations revealed features of unilateral severe dry OS with atrophy of the ipsilateral lacrimal gland confirmed by magnetic resonance imaging (MRI).

Dry eye should be included in the ocular manifestations of HAE. Recurrent mucosal and soft-tissue inflammation secondary to HAE may lead to lacrimal gland atrophy. MRI is a useful, noninvasive tool in diagnosing lacrimal gland atrophy.

To report a case of

    unilateral lacrimal gland atrophy
    SYMPTOMS

 in a patient with

    hereditary angioedema (HAE)
    DIAGNOSIS

.

    Observational case report
    PARACLINICAL

 with literature review.

A

    32-year-old
    AGE

    woman
    GENDER

 with

    HAE
    DIAGNOSIS

 presented with

    dryness and irritation of the left eye (OS)
    SYMPTOMS

. Investigations revealed features of

    unilateral severe dry OS
    SYMPTOMS

 with

    atrophy of the ipsilateral lacrimal gland
    SYMPTOMS

 confirmed by

    magnetic resonance imaging (MRI)
    PARACLINICAL

.

    Dry eye
    SYMPTOMS

 should be included in the ocular manifestations of

    HAE
    DIAGNOSIS

.

    Recurrent mucosal and soft-tissue inflammation
    SYMPTOMS

 secondary to

    HAE
    DIAGNOSIS

 may lead to

    lacrimal gland atrophy
    SYMPTOMS

.

    MRI
    PARACLINICAL

 is a useful, noninvasive tool in diagnosing

    lacrimal gland atrophy
    SYMPTOMS

.


[Hereditary angioedema in a 16-year-old girl].

The angioedema may be connected with immunological or allergic reactions, rarely appears as a genetically determined hereditary disorder. The cause of hereditary genetically determined angioedema is the defect of complement due to lack or decreased activity of Cl esterase inhibitor with the low serum C4 complement. The acquired angioedema is the most frequently the effect of lymphoproliferative and autoimmunological diseases. Hereditary angioedema was clinically characterized by subcutaneous oedema of extremities, face, neck, throat, gastrointestinal tract and brain. Tranexamic acid, sigma-aminocaproic acid and anabolic steroids- Danazol and Stanazol are administered for short- and long-term prophylaxis. Life-threatening recurrent episodes of angioedema were treated with replacement therapy. We present a case of hereditary angioedema in a 16-year-old girl admitted to hospital with massive facial oedema. The recurrence of symptoms without any effect of typical treatment was the indication for additional diagnostic tests. Diagnostic and therapeutic problems and a variable clinical course of disease were described.

The

    angioedema
    DIAGNOSIS

 may be connected with

    immunological or allergic reactions
    SYMPTOMS

, rarely appears as a

    genetically determined hereditary disorder
    GENETICS

. The cause of

    hereditary genetically determined
    GENETICS

    angioedema
    DIAGNOSIS

 is the

    defect of complement
    BIOCHEMICAL

 due to

    lack or decreased activity of Cl esterase inhibitor with the low serum C4 complement
    BIOCHEMICAL

. The

    acquired angioedema
    DIAGNOSIS

 is the most frequently the effect of

    lymphoproliferative
    DIAGNOSIS

 and

    autoimmunological diseases
    DIAGNOSIS

.

    Hereditary angioedema
    DIAGNOSIS

 was clinically characterized by

    subcutaneous oedema of extremities, face, neck, throat, gastrointestinal tract and brain
    SYMPTOMS

.

    Tranexamic acid, sigma-aminocaproic acid
    MEDICATION

 and

    anabolic steroids- Danazol and Stanazol
    MEDICATION

 are administered for

    short- and long-term prophylaxis
    MEDICATION

.

    Life-threatening recurrent episodes of angioedema
    SYMPTOMS

 were treated with

    replacement therapy
    MEDICATION

. We present a case of

    hereditary angioedema
    DIAGNOSIS

 in a

    16-year-old
    AGE

    girl
    GENDER

 admitted to hospital with

    massive facial oedema
    SYMPTOMS

. The

    recurrence of symptoms
    SYMPTOMS

    without any effect of typical treatment
    NEG_FINDINGS

 was the indication for additional diagnostic tests. Diagnostic and therapeutic problems and a variable clinical course of disease were described.

angioedema
angioedema
acquired angioedema
lymphoproliferative
autoimmunological diseases
Hereditary angioedema
hereditary angioedema


Angioedema and systemic lupus erythematosus--a complementary association?

We report angioedema as a rare presentation leading to a diagnosis of systemic lupus erythematosus (SLE).

A diagnosis of angioedema was delayed in a patient presenting with limb and facial swelling until she developed acute upper airway compromise. After excluding allergic and hereditary angioedema, acquired angioedema (AAE) was suspected, possibly precipitated by respiratory tract infection. Associated clinical and laboratory features led to a diagnosis of SLE.

Management proved challenging and included high dose steroids and immunosuppressants.

The patient responded to treatment and remains in remission without recurrence of the angioedema.

AAE occurs due to the acquired deficiency of inhibitor of C1 component of complement (C1 INH). Lymphoproliferative disorders and anti-C1 INH antibodies are well-described associations. However, one should also consider the possibility of SLE.

We report

    angioedema
    SYMPTOMS

 as a rare presentation leading to a diagnosis of

    systemic lupus erythematosus (SLE)
    DIAGNOSIS

.

A diagnosis of

    angioedema
    DIAGNOSIS

 was delayed in a patient presenting with

    limb and facial swelling
    SYMPTOMS

 until

    she
    GENDER

 developed

    acute upper airway compromise
    SYMPTOMS

. After

    excluding allergic and hereditary angioedema
    NEG_FINDINGS

,

    acquired angioedema (AAE)
    DIAGNOSIS

 was suspected, possibly precipitated by

    respiratory tract infection
    SYMPTOMS

. Associated clinical and laboratory features led to a diagnosis of

    SLE
    DIAGNOSIS

.

Management proved challenging and included

    high dose steroids and immunosuppressants
    MEDICATION

.

The patient responded to treatment and

    remains in remission
    MEDICATION

    without recurrence of the angioedema
    NEG_FINDINGS

.

    AAE
    DIAGNOSIS

 occurs due to the

    acquired deficiency of inhibitor of C1 component of complement (C1 INH)
    BIOCHEMICAL

.

    Lymphoproliferative disorders
    DIAGNOSIS

 and

    anti-C1 INH antibodies
    BIOCHEMICAL

 are well-described associations. However, one should also consider the possibility of

    SLE
    DIAGNOSIS

.

angioedema
limb and facial swelling
acute upper airway compromise
respiratory tract infection

systemic lupus erythematosus (SLE)
angioedema
acquired angioedema (AAE)
SLE
AAE
Lymphoproliferative disorders
SLE


[Atypical presentation of hereditary angioedema. A report of a case and literature review].

Hereditary angioedema is an uncommon disorder mainly caused by defects of the gene for C1 inhibitor. These patients present recurrent edema episodes in the different regions of the body, including larynx edema in some cases. Low plasma levels of C1 inhibitor confirm the diagnosis. It is important to establish an early diagnosis and prompt treatment to this disorder due to its potential of fatal consequences and multiple alterations in the quality of life that have been associated with. The indicated treatment is substitutive therapy of C1 inhibitor concentrate. We present the case of a patient a 27 year-old female with a history of seven years of evolution, with daily periorbital, upper and lower extremities and labial edema episodes who was classified as C1 inhibitor deficiency type II. She began treatment with attenuated androgens in progressive increased doses with poor response, appearing torpid evolution without a favorable response. This case corresponds to a very atypical presentation of C1 inhibitor deficiency with daily symptoms, unlike the typical intermittent course of the classic disease.

    Hereditary angioedema
    DIAGNOSIS

 is an uncommon disorder mainly caused by

    defects of the gene for C1 inhibitor
    GENETICS

. These patients present

    recurrent edema episodes in the different regions of the body
    SYMPTOMS

, including

    larynx edema
    SYMPTOMS

 in some cases.

    Low plasma levels of C1 inhibitor
    BIOCHEMICAL

 confirm the diagnosis. It is important to establish an early diagnosis and prompt treatment to this disorder due to its potential of fatal consequences and

    multiple alterations in the quality of life
    SYMPTOMS

 that have been associated with. The indicated treatment is

    substitutive therapy of C1 inhibitor concentrate
    MEDICATION

. We present the case of a patient a

    27 year-old
    AGE

    female
    GENDER

 with a

    history of seven years of evolution
    SYMPTOMS

, with

    daily periorbital, upper and lower extremities and labial edema episodes
    SYMPTOMS

 who was classified as

    C1 inhibitor deficiency type II
    DIAGNOSIS

.

    She
    GENDER

 began

    treatment with attenuated androgens in progressive increased doses
    MEDICATION

    with poor response
    NEG_FINDINGS

, appearing

    torpid evolution
    SYMPTOMS

    without a favorable response
    NEG_FINDINGS

. This case corresponds to a very atypical presentation of

    C1 inhibitor deficiency
    BIOCHEMICAL

 with

    daily symptoms
    SYMPTOMS

, unlike the typical intermittent course of the classic disease.

Hereditary angioedema
C1 inhibitor deficiency type II

Low plasma levels of C1 inhibitor
C1 inhibitor deficiency

with poor response
without a favorable response


Recurrent abdominal pain due to hereditary angioedema.

Recurrent abdominal pain is a common problem in children that may need invasive procedures for diagnosis. Hereditary angioedema (HAE) is rarely considered in the differential diagnosis. Here it is reported a girl with HAE, who presented initially as recurrent abdominal pain without cutaneous manifestations. Each episode was managed elsewhere as an acute surgical emergency and an exploratory laparotomy was planned. Diagnosis was confirmed by quantitative assay of C1 inhibitor. On detailed evaluation, many members of her family were affected.

    Recurrent abdominal pain
    SYMPTOMS

 is a common problem in

    children
    AGE

 that may need

    invasive procedures
    MEDICATION

 for diagnosis.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is rarely considered in the

    differential diagnosis
    PARACLINICAL

. Here it is reported a

    girl
    GENDER

 with

    HAE
    DIAGNOSIS

, who presented initially as

    recurrent abdominal pain
    SYMPTOMS

    without cutaneous manifestations
    NEG_FINDINGS

. Each episode was managed elsewhere as an

    acute surgical emergency
    MEDICATION

 and an

    exploratory laparotomy
    MEDICATION

 was planned. Diagnosis was confirmed by

    quantitative assay of C1 inhibitor
    BIOCHEMICAL

. On detailed evaluation,

    many members of her family were affected
    FAMILY

.

Recurrent abdominal pain
recurrent abdominal pain

invasive procedures
acute surgical emergency
exploratory laparotomy


Acute pancreatitis due to hereditary angioedema.

Hereditary angioedema (HAE) is an infrequent disorder characterized by abnormalities in the levels and/or function of complement C1 esterase inhibitor. Clinical manifestations of HAE are due to recurrent episodic swelling of the subcutaneous or submucosal tissue. When swelling involves the gastrointestinal mucosa, patients may present with nausea, vomiting, diarrhea, and severe abdominal pain. However, HAE is almost never suspected as a potential cause of acute pancreatitis.

To describe a patient with HAE-associated pancreatitis requiring intensive medical care that responded favorably to conservative and supportive measures.

Various tests were performed, including abdominal imaging, measurement of pancreatic enzymes levels, liver function tests, measurement of complement levels, and endoscopic retrograde cholangiopancreatography.

The results of these tests confirmed the diagnosis of HAE-associated acute pancreatitis. No other obvious origin, such as gallstones or alcohol use, was identified.

This case illustrates the need for a high clinical suspicion of acute pancreatitis when caring for patients with HAE who present with abdominal symptoms. There continues to be an urgent need for better and additional therapeutic options for HAE patients, including those to prevent and abort ongoing attacks.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is an infrequent disorder characterized by

    abnormalities in the levels and/or function of complement C1 esterase inhibitor
    BIOCHEMICAL

. Clinical manifestations of

    HAE
    DIAGNOSIS

 are due to

    recurrent episodic swelling of the subcutaneous or submucosal tissue
    SYMPTOMS

. When

    swelling involves the gastrointestinal mucosa
    SYMPTOMS

, patients may present with

    nausea
    SYMPTOMS

,

    vomiting
    SYMPTOMS

,

    diarrhea
    SYMPTOMS

, and

    severe abdominal pain
    SYMPTOMS

. However,

    HAE
    DIAGNOSIS

 is almost never suspected as a potential cause of

    acute pancreatitis
    DIAGNOSIS

.

To describe a patient with

    HAE-associated pancreatitis
    DIAGNOSIS

 requiring

    intensive medical care
    MEDICATION

 that responded favorably to

    conservative and supportive measures
    MEDICATION

.

Various tests were performed, including

    abdominal imaging
    PARACLINICAL

,

    measurement of pancreatic enzymes levels
    PARACLINICAL

,

    liver function tests
    PARACLINICAL

,

    measurement of complement levels
    PARACLINICAL

, and

    endoscopic retrograde cholangiopancreatography
    PARACLINICAL

.

The results of these tests confirmed the diagnosis of

    HAE-associated acute pancreatitis
    DIAGNOSIS

.

    No other obvious origin, such as gallstones or alcohol use, was identified
    NEG_FINDINGS

.

This case illustrates the need for a high clinical suspicion of

    acute pancreatitis
    DIAGNOSIS

 when caring for patients with

    HAE
    DIAGNOSIS

 who present with

    abdominal symptoms
    SYMPTOMS

. There continues to be an urgent need for better and additional therapeutic options for

    HAE
    DIAGNOSIS

 patients, including those to prevent and

    abort ongoing attacks
    SYMPTOMS

.

Hereditary angioedema (HAE)
HAE
HAE
acute pancreatitis
HAE-associated pancreatitis
HAE-associated acute pancreatitis
acute pancreatitis
HAE
HAE

intensive medical care
conservative and supportive measures


Repeated massive tongue swelling due to the combined use of estramustine phosphate and angiotensin-converting enzyme inhibitor.

A 70-year-old man presenting with a chief complaint of tongue swelling had been diagnosed with prostate cancer 1 year earlier. He had been on an oral angiotensin-converting enzyme inhibitor (ACE) inhibitor for hypertension for 20 years. Two months before the first of 4 episodes of tongue swelling within a period of 40 days, he had been prescribed oral estramustine phosphate (EMP) for the prostate cancer. He was admitted to our hospital for the evaluation after massive swelling of the tongue and epiglottis which necessitated tracheotomy. Food allergies, allergic reactions to environmental factors, and hereditary angioneurotic edema were excluded. Massive swelling of the tongue and epiglottis disappeared completely after EMP was discontinued. We concluded that angioedema was induced by EMP used concurrently with the ACE inhibitor.

A

    70-year-old
    AGE

    man
    GENDER

 presenting with a chief complaint of

    tongue swelling
    SYMPTOMS

 had been diagnosed with

    prostate cancer
    DIAGNOSIS

 1 year earlier.

    He
    GENDER

 had been

    on an oral angiotensin-converting enzyme inhibitor (ACE) inhibitor for hypertension for 20 years
    MEDICATION

. Two months before the first of

    4 episodes of tongue swelling
    SYMPTOMS

 within a

    period of 40 days
    SYMPTOMS

,

    he
    GENDER

 had been prescribed

    oral estramustine phosphate (EMP)
    MEDICATION

 for the

    prostate cancer
    DIAGNOSIS

.

    He
    GENDER

 was admitted to our hospital for the evaluation after

    massive swelling of the tongue and epiglottis
    SYMPTOMS

 which necessitated

    tracheotomy
    MEDICATION

.

    Food allergies, allergic reactions to environmental factors
    NEG_FINDINGS

, and

    hereditary angioneurotic edema
    NEG_FINDINGS

    were excluded
    NEG_FINDINGS

.

    Massive swelling of the tongue and epiglottis disappeared completely
    SYMPTOMS

 after

    EMP was discontinued
    MEDICATION

. We concluded that

    angioedema
    DIAGNOSIS

 was induced by

    EMP used concurrently with the ACE inhibitor
    MEDICATION

.

prostate cancer
prostate cancer
angioedema


Secondary systemic lupus erythematosus: an analysis of 4 cases of uncontrolled hereditary angioedema.

The association of systemic lupus erythematosus and hereditary angioedema (HAE) has formed the basis of numerous case reports and is hypothesised to result from consumption of complement C4 with consequent impaired clearance of apoptotic cells. We describe the development of frank lupus or lupus-like syndrome in four HAE patients with uncontrolled angioedema and low levels of serum C4. Measures that limit hypocomplementaemia in HAE may reduce the incidence of secondary SLE.

The association of

    systemic lupus erythematosus
    DIAGNOSIS

 and

    hereditary angioedema (HAE)
    DIAGNOSIS

 has formed the basis of numerous case reports and is hypothesised to result from

    consumption of complement C4
    BIOCHEMICAL

 with consequent

    impaired clearance of apoptotic cells
    MICROSCOPIC

. We describe the development of

    frank lupus or lupus-like syndrome
    DIAGNOSIS

 in four

    HAE
    DIAGNOSIS

 patients with

    uncontrolled angioedema
    SYMPTOMS

 and

    low levels of serum C4
    BIOCHEMICAL

. Measures that

    limit hypocomplementaemia
    BIOCHEMICAL

 in

    HAE
    DIAGNOSIS

 may reduce the incidence of

    secondary SLE
    DIAGNOSIS

.

systemic lupus erythematosus
hereditary angioedema (HAE)
frank lupus or lupus-like syndrome
HAE
HAE
secondary SLE

consumption of complement C4
low levels of serum C4
limit hypocomplementaemia


Hereditary angioedema associated with heterozygous factor V Leiden mutation in a patient with Purpura fulminans.

Hereditary angioedema (HAE) is an autosomal dominant, quantitative or functional defect of the C1 esterase inhibitor. The main role of the C1 esterase inhibitor is to regulate the activation of the complement system, the contact phase of the intrinsic coagulation system. On the other hand, factor V Leiden is the most common cause of primary and recurrent venous thromboembolism and displays a strong interaction with oral contraceptives. Here we report the case of a patient with HAE associated with the factor V Leiden mutation who had purpura fulminans when put on an oral contraceptive therapy.

A 42-year-old woman presented to the emergency room with a history of livid skin changes on her legs during a flight. On physical examination, the vital signs were normal, but there were edemas in her legs. The livid skin changes tended to increase, eventually leading to skin necrosis on the next day. She had a history of a similar episode two months before and experienced both episodes of necrotic skin lesions just after she had been put on a hormone replacement therapy due to irregular menstruations. She also had a history of recurrent angioedema attacks since her childhood, triggered by stress and physical stimulants such as pressure and heat. Subsequent investigations revealed heterozygous factor V mutation, activated protein C resistance and reduced C1 inhibitor levels.

Thrombosis is a multifactorial disease. The coexistence of multiple hereditary and acquired factors eases its occurrence. Women with HAE should be screened for the factor V Leiden mutation before pregnancy or the start of a hormone replacement therapy.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is an

    autosomal dominant, quantitative or functional defect of the C1 esterase inhibitor
    GENETICS

. The main role of the

    C1 esterase inhibitor
    BIOCHEMICAL

 is to

    regulate the activation of the complement system, the contact phase of the intrinsic coagulation system
    BIOCHEMICAL

. On the other hand,

    factor V Leiden
    GENETICS

 is the most common cause of primary and

    recurrent venous thromboembolism
    SYMPTOMS

 and displays a strong interaction with

    oral contraceptives
    MEDICATION

. Here we report the case of a patient with

    HAE
    DIAGNOSIS

 associated with the

    factor V Leiden mutation
    GENETICS

 who had

    purpura fulminans
    DIAGNOSIS

 when

    put on an oral contraceptive therapy
    MEDICATION

.

A

    42-year-old
    AGE

    woman
    GENDER

 presented to the emergency room with a history of

    livid skin changes on her legs
    SYMPTOMS

 during a

    flight
    SYMPTOMS

. On physical examination,

    the vital signs were normal
    NEG_FINDINGS

, but there were

    edemas in her legs
    SYMPTOMS

. The

    livid skin changes tended to increase
    SYMPTOMS

, eventually leading to

    skin necrosis
    SYMPTOMS

 on the next day.

    She
    GENDER

 had a

    history of a
    FAMILY

 similar episode two months before and experienced

    both episodes of necrotic skin lesions
    SYMPTOMS

 just after

    she
    GENDER

    had been put on a hormone replacement therapy due to irregular menstruations
    MEDICATION

.

    She
    GENDER

 also had a history of

    recurrent angioedema attacks
    SYMPTOMS

 since

    her childhood
    AGE

, triggered by

    stress
    SYMPTOMS

 and

    physical stimulants such as pressure and heat
    SYMPTOMS

. Subsequent investigations revealed

    heterozygous factor V mutation
    GENETICS

,

    activated protein C resistance
    BIOCHEMICAL

 and

    reduced C1 inhibitor levels
    BIOCHEMICAL

.

    Thrombosis
    DIAGNOSIS

 is a

    multifactorial disease
    DIAGNOSIS

. The

    coexistence of multiple hereditary and acquired factors
    SYMPTOMS

 eases its occurrence.

    Women
    GENDER

 with

    HAE
    DIAGNOSIS

 should be screened for the

    factor V Leiden mutation
    GENETICS

 before

    pregnancy
    MEDICATION

 or the start of a

    hormone replacement therapy
    MEDICATION

.

Hereditary angioedema (HAE)
HAE
purpura fulminans
Thrombosis
multifactorial disease
HAE


Idiopathic non-histaminergic angio-oedema after routine extubation successfully treated with fresh frozen plasma.

Non-allergic angio-oedema is a potentially life-threatening condition typically seen in patients with hereditary or acquired angio-oedema caused by C1 inhibitor deficiency or an adverse drug reaction to angiotensin converting enzyme inhibitors. We report a case of sudden angio-oedema in a patient who developed severe swelling of the tongue and neck after routine extubation requiring resuscitative re-intubation. The oedema was refractory to conventional allergy treatment. Shortly thereafter, the patient was treated with fresh frozen plasma, and within a few hours his condition improved, allowing extubation. Familial history and exposure to potentially angio-oedema causative drugs were not evident. The serum complement status was normal, and no IgE sensitisation was detected. We therefore concluded that the patient was suffering from idiopathic non-histaminergic angio-oedema. To our knowledge, this is the first reported case of an acute, life-threatening attack of idiopathic non-histaminergic angio-oedema that was successfully treated with fresh frozen plasma.

    Non-allergic angio-oedema
    DIAGNOSIS

 is a

    potentially life-threatening
    SYMPTOMS

 condition typically seen in patients with

    hereditary
    GENETICS

 or

    acquired angio-oedema
    DIAGNOSIS

 caused by

    C1 inhibitor deficiency
    BIOCHEMICAL

 or an

    adverse drug reaction to angiotensin converting enzyme inhibitors
    SYMPTOMS

. We report a case of

    sudden angio-oedema
    SYMPTOMS

 in a patient who developed

    severe swelling of the tongue and neck
    SYMPTOMS

 after

    routine extubation
    MEDICATION

 requiring

    resuscitative re-intubation
    MEDICATION

. The

    oedema was refractory to conventional allergy treatment
    NEG_FINDINGS

. Shortly thereafter, the patient was

    treated with fresh frozen plasma
    MEDICATION

, and within a few hours his condition improved, allowing

    extubation
    MEDICATION

.

    Familial history and exposure to potentially angio-oedema causative drugs were not evident
    NEG_FINDINGS

. The

    serum complement status was normal
    NEG_FINDINGS

, and

    no IgE sensitisation was detected
    NEG_FINDINGS

. We therefore concluded that the patient was suffering from

    idiopathic non-histaminergic angio-oedema
    DIAGNOSIS

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

    acute, life-threatening attack of idiopathic non-histaminergic angio-oedema
    SYMPTOMS

 that was successfully treated with

    fresh frozen plasma
    MEDICATION

.

routine extubation
resuscitative re-intubation
treated with fresh frozen plasma
extubation
fresh frozen plasma


Pregnancy and C1 esterase inhibitor deficiency: a successful outcome.

Hereditary angioedema is a potentially life-threatening condition which can complicate pregnancy. A 34-year-old patient with known C1 esterase inhibitor (C1INH) deficiency was managed successfully in our department and her management was a part of a shared care strategy with the medical and anesthetic departments. Peripartum management plans along with an anesthetic plan were drawn up and clearly displayed in her records. She was admitted three times with abdominal pain which were self-limiting before she was admitted at term. An aggressive management strategy with C1INH concentrate facilitated a normal vaginal delivery.

    Hereditary angioedema
    DIAGNOSIS

 is a potentially life-threatening condition which can complicate

    pregnancy
    DIAGNOSIS

. A

    34-year-old
    AGE

 patient with known

    C1 esterase inhibitor (C1INH) deficiency
    BIOCHEMICAL

 was managed successfully in our department and

    her
    GENDER

 management was a part of a

    shared care strategy with the medical and anesthetic departments
    MEDICATION

.

    Peripartum management plans
    MEDICATION

 along with an

    anesthetic plan
    MEDICATION

 were drawn up and clearly displayed in her records.

    She
    GENDER

 was admitted three times with

    abdominal pain
    SYMPTOMS

 which were

    self-limiting
    NEG_FINDINGS

 before

    she
    GENDER

 was

    admitted at term
    MEDICATION

. An

    aggressive management strategy with C1INH concentrate
    MEDICATION

 facilitated a

    normal vaginal delivery
    MEDICATION

.


[Hereditary angioedema. A report of a case and literature review].

Hereditary angioedema is a congenital disorder with recurrent attacks of localized swelling of submucosal and subcutaneous tissue, or both caused by a deficiency of the plasma protein C1 inhibitor. It is caused by heterozygous defects in the C1 inhibitor gene located on chromosome 11q, and it has an autosomal dominant inheritance pattern. This disease afflicts 1 in 10,000 to 1 in 150,000 persons. Hereditary angioedema has been reported in all races, and no sex predominance has been found. Skin and visceral organs may be involved by the typically massive local edema. The most commonly involved viscera are the respiratory and gastrointestinal systems, and it can affect the upper airways resulting in severe life-threatening symptoms, including the risk of asphyxiation. There are three types of hereditary angioedema, which difference lies in the inheritance pattern and in the C1 esterase inhibitor and C4 concentrations. The treatment is complicated and it should be treated with intravenous purified C1 inhibitor concentrate; corticosteroids, antihistamines and epinephrine can be useful adjuncts but they are not effective. We report a patient with hereditary angioedema type 1 and make a review of the medical literature.

    Hereditary angioedema
    DIAGNOSIS

 is a

    congenital disorder
    DIAGNOSIS

 with

    recurrent attacks of localized swelling of submucosal and subcutaneous tissue, or both
    SYMPTOMS

 caused by a

    deficiency of the plasma protein C1 inhibitor
    BIOCHEMICAL

. It is caused by

    heterozygous defects in the C1 inhibitor gene located on chromosome 11q
    GENETICS

, and it has an

    autosomal dominant inheritance pattern
    GENETICS

. This disease afflicts 1 in 10,000 to 1 in 150,000 persons.

    Hereditary angioedema
    DIAGNOSIS

 has been reported in all races, and no sex predominance has been found.

    Skin and visceral organs
    SYMPTOMS

 may be involved by the typically

    massive local edema
    SYMPTOMS

. The most commonly

    involved viscera are the respiratory and gastrointestinal systems
    SYMPTOMS

, and it can

    affect the upper airways
    SYMPTOMS

 resulting in

    severe life-threatening symptoms
    SYMPTOMS

, including the risk of

    asphyxiation
    SYMPTOMS

. There are three types of

    hereditary angioedema
    DIAGNOSIS

, which difference lies in the inheritance pattern and in the

    C1 esterase inhibitor and C4 concentrations
    BIOCHEMICAL

. The treatment is complicated and it should be treated with

    intravenous purified C1 inhibitor concentrate
    MEDICATION

;

    corticosteroids
    MEDICATION

,

    antihistamines
    MEDICATION

 and

    epinephrine
    MEDICATION

 can be useful adjuncts but they are not effective. We report a patient with

    hereditary angioedema type 1
    DIAGNOSIS

 and make a review of the medical literature.

Hereditary angioedema
congenital disorder
Hereditary angioedema
hereditary angioedema
hereditary angioedema type 1


Hereditary angioedema: a family study.

Hereditary angioedema (HAE) is a rare, life-threatening, autosomal dominant disease characterized by recurrent episodes of angioedema, and caused by a deficiency of the plasma protein C1-esterase inhibitor (C1-INH). Clinical manifestation of HAE may first develop during childhood but typically presents around puberty with nonpruritic and non-pitting edema of the subcutaneous and mucosal tissues. Up to now, there has been no published report of HAE case in Taiwan. We reported a 33 year-old female patient who had recurrent painful swelling of face and hands since 27 years of age. She first suffered from sudden onset of painful swelling of the eyelids and lips in August 1998 when she was pregnant for the first time. Subsequently, similar episodes recurred for a few times. Her blood test disclosed that her C3 and C4 were 125 mg/dl and 6 mg/dl, respectively. Her uncle died of laryngeal edema at the age of 30 years. Her father and elder brother also had the similar history of recurrent facial and hand swelling. The C4 levels of her elder brother were 6 mg/dl and 13.3 mg/dl on two separate occasions. The C1-INH antigen serum level and functional assay of the index patient and ten other family members were studied. A total of seven members of the family were confirmed to have type 1 HAE as evidenced by the low C4 and low C1-INH antigenic level and functional activity. Two of the seven cases were asymptomatic up to the date of our report.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a rare, life-threatening,

    autosomal dominant disease
    GENETICS

 characterized by

    recurrent episodes of angioedema
    SYMPTOMS

, and caused by a

    deficiency of the plasma protein C1-esterase inhibitor (C1-INH)
    BIOCHEMICAL

. Clinical manifestation of

    HAE
    DIAGNOSIS

 may first develop during

    childhood
    AGE

 but typically presents around

    puberty
    AGE

 with

    nonpruritic and non-pitting edema of the subcutaneous and mucosal tissues
    SYMPTOMS

. Up to now, there has been no published report of

    HAE
    DIAGNOSIS

 case in

    Taiwan
    ETHNICITY

. We reported a

    33 year-old
    AGE

    female
    GENDER

 patient who had

    recurrent painful swelling of face and hands
    SYMPTOMS

 since

    27 years of age
    AGE

.

    She
    GENDER

 first suffered from

    sudden onset of painful swelling of the eyelids and lips
    SYMPTOMS

 in August 1998 when

    she
    GENDER

 was

    pregnant
    MEDICATION

 for the first time. Subsequently, similar episodes recurred for a few times.

    Her
    GENDER

    blood test
    PARACLINICAL

 disclosed that

    her
    GENDER

    C3 and C4 were 125 mg/dl and 6 mg/dl, respectively
    BIOCHEMICAL

.

    Her
    GENDER

    uncle died of laryngeal edema
    FAMILY

    at the age of 30 years
    AGE

.

    Her
    GENDER

    father and elder brother also had the similar history of recurrent facial and hand swelling
    FAMILY

.

    The C4 levels of her elder brother were 6 mg/dl and 13.3 mg/dl on two separate occasions
    BIOCHEMICAL

. The

    C1-INH antigen serum level and functional assay
    BIOCHEMICAL

 of the index patient and ten other family members were studied. A total of seven members of the family were confirmed to have

    type 1 HAE
    DIAGNOSIS

 as evidenced by the

    low C4 and low C1-INH antigenic level and functional activity
    BIOCHEMICAL

. Two of the seven cases were

    asymptomatic
    NEG_FINDINGS

 up to the date of our report.

Hereditary angioedema (HAE)
HAE
HAE
type 1 HAE


Hereditary angioedema managed with low-dose danazol and C1 esterase inhibitor concentrate: a case report.

Hereditary angioedema (HAE) is a rare life-threatening disease that can occur in pregnancy.

A nulliparous woman was diagnosed as having HAE at 22 weeks of gestation after a series of symptomatic episodes. Following an initial course of C1 esterase inhibitor (C1EI) therapy for an acute episode of HAE, she was treated with danazol for prophylaxis. Danazol did not prevent recurrence of symptoms, its use was discontinued after six weeks. Thereafter, the patient was treated exclusively with C1EI at weekly intervals for exacerbations of her HAE. At 37 weeks' gestation, she delivered healthy 3050 g female neonate. At the time of discharge the female neonate had no signs of virilization or congenital anomalies.

Low dose danazol was ineffective in treating this woman's HAE in pregnancy. The use of C1EI in pregnancy is associated with good outcomes.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a

    rare life-threatening disease
    DIAGNOSIS

 that can occur in

    pregnancy
    AGE

.

A

    nulliparous
    DIAGNOSIS

    woman
    GENDER

 was diagnosed as having

    HAE
    DIAGNOSIS

 at

    22 weeks of gestation
    AGE

 after a series of

    symptomatic episodes
    SYMPTOMS

. Following an

    initial course of C1 esterase inhibitor (C1EI) therapy
    MEDICATION

 for an

    acute episode of HAE
    DIAGNOSIS

,

    she
    GENDER

 was

    treated with danazol for prophylaxis
    MEDICATION

.

    Danazol did not prevent recurrence of symptoms
    NEG_FINDINGS

,

    its use was discontinued after six weeks
    MEDICATION

. Thereafter, the patient was

    treated exclusively with C1EI at weekly intervals
    MEDICATION

 for

    exacerbations of her HAE
    DIAGNOSIS

.

    At 37 weeks' gestation
    MEDICATION

,

    she
    GENDER

    delivered healthy 3050 g female neonate
    MEDICATION

. At the time of discharge the

    female
    GENDER

 neonate had

    no signs of virilization or congenital anomalies
    NEG_FINDINGS

.

    Low dose danazol was ineffective in treating
    NEG_FINDINGS

 this

    woman
    GENDER

's

    HAE in pregnancy
    DIAGNOSIS

. The use of

    C1EI
    MEDICATION

 in

    pregnancy
    DIAGNOSIS

 is associated with good outcomes.

Hereditary angioedema (HAE)
rare life-threatening disease
nulliparous
HAE
acute episode of HAE
exacerbations of her HAE
HAE in pregnancy
pregnancy


Characterisation of a new C1 inhibitor mutant in a patient with hepatocellular carcinoma.

A patient developed the first case of hepatocarcinoma associated with hereditary angioedema within the context of a 13-year long prophylactic danazol exposure. We sought to identify the molecular defect and to test the relative contribution to the development of hepatocarcinoma of intracellular accumulation of abnormal C1 inhibitor (C1-INH) protein. The de novo mutation c.878_881delTCTA was identified, leading to a premature stop codon. Monocyte C1-INH secretions of the patient and of her affected daughter were, respectively, 26 and 18% compared to controls. Mutant transcripts compatible with the 4bp deletion were detectable as a faint RT-PCR product both in interferon-stimulated monocytes and in liver tissue, whereas total C1-INH mRNA was found nearly half the amount recovered from normal subjects. In order to study the consequences at the protein level of the low expression of the mutant allele, we analysed the intracellular fate of mutant products. COS-7 cells were transiently transfected with a C1-INH expression minigene encoding the mutant protein. In pulse-chase experiments, a faint 75,000-M(r) band was detected only within 10min. Both the c.878_881delTCTA mutant transcript and the intracellular abnormal C1-INH protein are unstable. Our data therefore rule out the hypothesis of an accumulation of the mutant protein at levels relevant for the pathology and strengthen the link between the development of hepatocarcinoma and danazol exposure.

A patient developed the first case of

    hepatocarcinoma
    DIAGNOSIS

 associated with

    hereditary angioedema
    DIAGNOSIS

 within the context of a

    13-year long prophylactic danazol exposure
    MEDICATION

. We sought to identify the molecular defect and to test the relative contribution to the development of

    hepatocarcinoma
    DIAGNOSIS

 of

    intracellular accumulation of abnormal C1 inhibitor (C1-INH) protein
    MICROSCOPIC

. The

    de novo mutation c.878_881delTCTA
    GENETICS

 was identified

    , leading to a premature stop codon
    GENETICS

.

    Monocyte C1-INH secretions of
    BIOCHEMICAL

 the patient

    and of her
    BIOCHEMICAL

 affected daughter

    were, respectively, 26 and 18% compared to controls
    BIOCHEMICAL

.

    Mutant transcripts compatible with the 4bp deletion
    GENETICS

 were detectable as a faint

    RT-PCR product both in interferon-stimulated monocytes and in liver tissue
    PARACLINICAL

, whereas

    total C1-INH mRNA was found nearly half the amount recovered
    BIOCHEMICAL

 from normal subjects. In order to study the consequences at the protein level of the

    low expression of the mutant allele
    GENETICS

, we analysed the intracellular fate of mutant products.

    COS-7 cells
    MICROSCOPIC

 were transiently transfected with a C1-INH expression minigene encoding the mutant protein. In

    pulse-chase experiments
    PARACLINICAL

, a faint 75,000-M(r) band was detected only within 10min. Both the

    c.878_881delTCTA mutant transcript
    GENETICS

 and the

    intracellular abnormal C1-INH protein are unstable
    BIOCHEMICAL

. Our data therefore

    rule out the hypothesis of
    NEG_FINDINGS

 an accumulation of the mutant protein at levels relevant for the pathology and strengthen the link between the development of

    hepatocarcinoma
    DIAGNOSIS

 and

    danazol exposure
    MEDICATION

.

hepatocarcinoma
hereditary angioedema
hepatocarcinoma
hepatocarcinoma


Ceftriaxone or HIV associated angio-oedema? Case report.

Angio-oedema may be hereditary or acquired and is characterised by episodes of potentially life threatening localised tissue oedema and swelling resulting from deficiency of compliment pathway C1 esterase inhibitor. Acquired angio-oedema is about ten times less frequent than the hereditary type and has been associated with immune-deficiency disorders, malignancies and exposure to specific medications and food substances. We present a case of seven year old, human immune-deficiency virus positive girl, who developed gross swelling of the tongue and neck while on treatment for pneumococcal meningitis with ceftriaxone. Difficulties in arriving at a definitive diagnosis of angio-oedema in a resource poor country are discussed and alternative diagnostic options proposed.

    Angio-oedema
    DIAGNOSIS

 may be

    hereditary
    GENETICS

 or

    acquired
    DIAGNOSIS

 and is characterised by

    episodes of potentially life threatening localised tissue oedema and swelling
    SYMPTOMS

 resulting from

    deficiency of compliment pathway C1 esterase inhibitor
    BIOCHEMICAL

.

    Acquired angio-oedema
    DIAGNOSIS

 is about ten times less frequent than the hereditary type and has been associated with

    immune-deficiency disorders
    DIAGNOSIS

,

    malignancies
    DIAGNOSIS

 and

    exposure to specific medications and food substances
    SYMPTOMS

. We present a case of

    seven year old
    AGE

,

    human immune-deficiency virus positive
    DIAGNOSIS

    girl
    GENDER

, who developed

    gross swelling of the tongue and neck
    SYMPTOMS

 while on

    treatment for pneumococcal meningitis
    MEDICATION

    with ceftriaxone
    MEDICATION

. Difficulties in arriving at a definitive diagnosis of

    angio-oedema
    DIAGNOSIS

 in a resource poor country are discussed and alternative diagnostic options proposed.

Angio-oedema
acquired
Acquired angio-oedema
immune-deficiency disorders
malignancies
human immune-deficiency virus positive
angio-oedema


Angioedema from angiotensin-converting enzyme (ACE) inhibitor treated with complement 1 (C1) inhibitor concentrate.

Up to seven in every 1000 patients experience angioedema from angiotensin-converting enzyme (ACE) inhibitors, even after many years of use. In 2003, every 20th Norwegian used an ACE inhibitor.

A 61-year-old woman with chronic obstructive pulmonary disease and a past acute myocardial infarction had used 7.5 mg of ramipril daily for the past 7 years. She also used acetylsalicylic acid, simvastatin, theophylline and salmeterol. One night she woke up with edema of the tongue. On hospital arrival, 250 mg of hydrocortisone and 5 mg of dexchlorpheniramine were given intravenously (i.v.) and 0.3 mg of epinephrine was given subcutaneously (s.c.). The edema of the tongue progressed over the next 8 h and made the tongue protrude. Fiberscopy revealed glassy edema of the arytenoids. Inspiratory stridor was heard and the patient could not speak. She became increasingly uneasy and restless. Berinert complement 1 (C1) inhibitor concentrate (1500 units) was administered i.v. Over the following 20 min, stridor gradually subsided, the patient calmed and she was able to talk.

ACE inhibitor-provoked angioedema shares many clinical features with hereditary angioedema (HAE), including a limited effect of steroids, antihistamines and epinephrine. HAE, caused by excess bradykinin formation as a result of C1 inhibitor deficiency, usually has its laryngeal edema effectively reversed by C1 inhibitor in less than 0.5 h. Although patients experiencing ACE inhibitor-provoked angioedema have normal C1 inhibitor values, as in our patient, excess bradykinin is probably important as ACE breaks down bradykinin. It is unknown why ACE inhibitor-provoked angioedema appears in some and sometimes after many years of use.

We believe that C1 inhibitor was effective in reversing the ACE inhibitor-induced angioedema in our patient.

Up to seven in every 1000 patients experience

    angioedema
    DIAGNOSIS

 from

    angiotensin-converting enzyme (ACE) inhibitors
    MEDICATION

, even after many years of use. In 2003, every 20th Norwegian used an

    ACE inhibitor
    MEDICATION

.

A

    61-year-old
    AGE

    woman
    GENDER

 with

    chronic obstructive pulmonary disease
    DIAGNOSIS

 and a

    past acute myocardial infarction
    SYMPTOMS

 had

    used 7.5 mg of ramipril daily for the past 7 years
    MEDICATION

.

    She
    GENDER

 also used

    acetylsalicylic acid, simvastatin, theophylline and salmeterol
    MEDICATION

. One night

    she
    GENDER

 woke up with

    edema of the tongue
    SYMPTOMS

. On hospital arrival,

    250 mg of hydrocortisone and 5 mg of dexchlorpheniramine were given intravenously (i.v.)
    MEDICATION

 and

    0.3 mg of epinephrine was given subcutaneously (s.c.)
    MEDICATION

. The

    edema of the tongue progressed over the next 8 h
    SYMPTOMS

 and

    made the tongue protrude
    SYMPTOMS

.

    Fiberscopy
    PARACLINICAL

 revealed

    glassy edema of the arytenoids
    SYMPTOMS

.

    Inspiratory stridor was heard
    SYMPTOMS

 and the patient

    could not speak
    NEG_FINDINGS

.

    She
    GENDER

 became

    increasingly uneasy
    SYMPTOMS

 and

    restless
    SYMPTOMS

.

    Berinert complement 1 (C1) inhibitor concentrate (1500 units) was administered i.v.
    MEDICATION

 Over the following 20 min,

    stridor gradually subsided
    SYMPTOMS

, the patient

    calmed
    SYMPTOMS

 and

    she
    GENDER

 was

    able to talk
    SYMPTOMS

.

    ACE inhibitor-provoked angioedema
    DIAGNOSIS

 shares many clinical features with

    hereditary angioedema (HAE)
    DIAGNOSIS

, including a

    limited effect of steroids, antihistamines and epinephrine
    NEG_FINDINGS

.

    HAE
    DIAGNOSIS

, caused by

    excess bradykinin formation
    BIOCHEMICAL

 as a result of

    C1 inhibitor deficiency
    BIOCHEMICAL

, usually has its laryngeal edema effectively reversed by C1 inhibitor in less than 0.5 h. Although patients experiencing

    ACE inhibitor-provoked angioedema
    DIAGNOSIS

 have

    normal C1 inhibitor values
    NEG_FINDINGS

, as in our patient,

    excess bradykinin
    BIOCHEMICAL

 is probably important as

    ACE breaks down bradykinin
    BIOCHEMICAL

. It is unknown why

    ACE inhibitor-provoked angioedema
    DIAGNOSIS

 appears in some and sometimes after many years of use.

We believe that

    C1 inhibitor
    MEDICATION

 was effective in reversing the

    ACE inhibitor-induced angioedema
    SYMPTOMS

 in our patient.

angioedema
chronic obstructive pulmonary disease
ACE inhibitor-provoked angioedema
hereditary angioedema (HAE)
HAE
ACE inhibitor-provoked angioedema
ACE inhibitor-provoked angioedema

excess bradykinin formation
C1 inhibitor deficiency
excess bradykinin
ACE breaks down bradykinin


Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men.

Recurrent angio-oedema is a sign of various acquired and inherited disease entities, including hereditary angio-oedema types I and II that result from a genetic deficiency of C1 inhibitor, and a recently described type of dominantly inherited angio-oedema, which does not show a deficiency of C1 inhibitor. Until now, this new type of hereditary angio-oedema, designated as hereditary angio-oedema type III, has been assumed to be a disorder specific to females. We now describe a four-generation family with dominantly inherited angio-oedema and normal C1 inhibitor in which, in contrast to all previous observations, not only five female but also three male family members were clinically affected. One male patient was mainly affected following the intake of angiotensin-converting enzyme inhibitors. Our current observation leads to new considerations about the classification of hereditary angio-oedema with normal C1 inhibitor. Either hereditary angio-oedema with normal C1 inhibitor can be an entity affecting females predominantly, but not exclusively; in that case, men appear to have a much reduced chance of clinical manifestations. Alternatively, our present observation of hereditary angio-oedema with normal C1 inhibitor affecting both sexes may represent a new disease entity, presumably with a different underlying defect.

    Recurrent angio-oedema
    SYMPTOMS

 is a sign of various acquired and inherited disease entities, including

    hereditary angio-oedema types I and II
    DIAGNOSIS

 that result from a

    genetic deficiency of C1 inhibitor
    GENETICS

, and a recently described type of

    dominantly inherited angio-oedema
    DIAGNOSIS

, which

    does not show a deficiency of C1 inhibitor
    NEG_FINDINGS

. Until now, this new type of

    hereditary angio-oedema
    DIAGNOSIS

, designated as

    hereditary angio-oedema type III
    DIAGNOSIS

, has been assumed to be a disorder specific to

    females
    GENDER

. We now describe a

    four-generation family with dominantly inherited angio-oedema
    FAMILY

 and

    normal C1 inhibitor
    NEG_FINDINGS

 in which, in contrast to all previous observations, not only five

    female
    GENDER

 but also three

    male
    GENDER

    family members were clinically affected
    FAMILY

. One

    male
    GENDER

 patient was mainly affected following the

    intake of angiotensin-converting enzyme inhibitors
    MEDICATION

. Our current observation leads to new considerations about the classification of

    hereditary angio-oedema
    DIAGNOSIS

 with

    normal C1 inhibitor
    BIOCHEMICAL

. Either

    hereditary angio-oedema
    DIAGNOSIS

 with

    normal C1 inhibitor
    BIOCHEMICAL

 can be an entity affecting

    females
    GENDER

 predominantly, but not exclusively; in that case,

    men
    GENDER

 appear to have a much reduced chance of clinical manifestations. Alternatively, our present observation of

    hereditary angio-oedema
    DIAGNOSIS

 with

    normal C1 inhibitor
    BIOCHEMICAL

 affecting both

    sexes
    GENDER

 may represent a new disease entity, presumably with a different underlying defect.

hereditary angio-oedema types I and II
dominantly inherited angio-oedema
hereditary angio-oedema
hereditary angio-oedema type III
hereditary angio-oedema
hereditary angio-oedema
hereditary angio-oedema

normal C1 inhibitor
normal C1 inhibitor
normal C1 inhibitor


Hereditary angioneurotic edema of the larynx.

Hereditary angioneurotic edema (HAE) is an autosomal dominant disease resulting from a deficiency of functional C1-esterase inhibitor. If not recognized promptly and treated properly the disease can result in a fatal outcome as it causes laryngeal edema, which can lead to a life-threatening acute upper airway obstruction. We present the case of a 37-year-old female with HAE of the larynx, who was diagnosed early and treated properly, together with a review of the literature.

    Hereditary angioneurotic edema (HAE)
    DIAGNOSIS

 is an

    autosomal dominant disease
    GENETICS

 resulting from a

    deficiency of functional C1-esterase inhibitor
    BIOCHEMICAL

. If not recognized promptly and treated properly the disease can result in a fatal outcome as it causes

    laryngeal edema
    SYMPTOMS

, which can lead to a

    life-threatening acute upper airway obstruction
    SYMPTOMS

. We present the case of a

    37-year-old
    AGE

    female
    GENDER

 with

    HAE of the larynx
    DIAGNOSIS

, who was diagnosed early and treated properly, together with a review of the literature.

Hereditary angioneurotic edema (HAE)
HAE of the larynx


[Recombinant human C1-inhibitor is effective in the treatment of acute attacks of hereditary angioedema--case report].

Hereditary angioedema (HAE) is a rare condition, resting on attacks of edema in various localizations, potentially life-threatening if in facial, laryngeal, pharyngeal or gastrointestinal area. The disease is caused by deficiency or impaired activity of C1 inhibitor, therefore C1 inhibitor infusion is the the essential treatment and the only efficient method in an acute attack of HAE. Nowadays C1 inhibitor applied in our patients is obtained from human plasma, what restricts the availability of the drug and carries relevant risks. After many years of research it came to the synthesis of the recombinant protein with features of human C1 inhibitor. Its first usage in Poland took place-in two HAE patients with severe edema in 2004. The course and efficiency of this treatment is reported in the paper. Recombinant human C1 inhibitor occurred efficient and safe in presented case of severe angioedema.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a rare condition, resting on

    attacks of edema in various localizations
    SYMPTOMS

,

    potentially life-threatening if in facial, laryngeal, pharyngeal or gastrointestinal area
    SYMPTOMS

. The disease is caused by

    deficiency or impaired activity of C1 inhibitor
    BIOCHEMICAL

, therefore

    C1 inhibitor infusion
    MEDICATION

 is the the essential treatment and the only efficient method in an acute attack of

    HAE
    DIAGNOSIS

. Nowadays

    C1 inhibitor
    MEDICATION

 applied in our patients

    is obtained from human plasma
    MEDICATION

, what restricts the availability of the drug and carries relevant risks. After many years of research it came to the

    synthesis of the recombinant protein with features of human C1 inhibitor
    MEDICATION

. Its first usage in

    Poland
    ETHNICITY

 took place-in two

    HAE
    DIAGNOSIS

 patients with

    severe edema
    SYMPTOMS

 in 2004. The course and efficiency of this treatment is reported in the paper.

    Recombinant human C1 inhibitor
    MEDICATION

 occurred efficient and safe in presented case of

    severe angioedema
    DIAGNOSIS

.

Hereditary angioedema (HAE)
HAE
HAE
severe angioedema


Acquired angioedema secondary to hormone replacement therapy.

Angioedema is a potentially life threatening condition and may be either inherited or acquired. The latter is rare with only a handful of cases reported in the world literature. Presenting complaints are often vague. Those most commonly described include swelling in the subcutaneous and submucosal tissues. Patients presenting with laryngeal edema have high mortality, and high clinical suspicion is necessary to avoid instrumentation, which can precipitate laryngeal spasm. We present a review of reported cases of hormonally induced hereditary angioedema, along with a report of a patient with acquired angioedema secondary to hormone replacement therapy. To the best of our knowledge, this case probably represents the first reported case of acquired angioedema secondary to hormone replacement therapy.

    Angioedema
    DIAGNOSIS

 is a potentially life threatening condition and may be either

    inherited
    GENETICS

 or acquired. The latter is rare with only a handful of cases reported in the world literature. Presenting complaints are often vague. Those most commonly described include

    swelling in the subcutaneous and submucosal tissues
    SYMPTOMS

. Patients presenting with

    laryngeal edema
    SYMPTOMS

 have high mortality, and high clinical suspicion is necessary to avoid

    instrumentation
    MEDICATION

, which can precipitate

    laryngeal spasm
    SYMPTOMS

. We present a review of reported cases of

    hormonally induced hereditary angioedema
    DIAGNOSIS

, along with a report of a patient with

    acquired angioedema
    DIAGNOSIS

 secondary to

    hormone replacement therapy
    MEDICATION

. To the best of our knowledge, this case probably represents the first reported case of

    acquired angioedema
    DIAGNOSIS

 secondary to

    hormone replacement therapy
    MEDICATION

.

instrumentation
hormone replacement therapy
hormone replacement therapy


Recurring acute abdominal pains in an adolescent as the presenting manifestations of hereditary angioneurotic oedema.

An adolescent was hospitalized for recurring abdominal pains, which had previously led to appendicectomy. Laboratory data finally led to the diagnosis of hereditary angioneurotic oedema, after several hypotheses had been raised and ruled out.

Angioneurotic oedema is a rare condition, which should be suspected in children with recurring abdominal pains, especially when there is liquid within the peritoneal cavity.

An

    adolescent
    AGE

 was hospitalized for

    recurring abdominal pains
    SYMPTOMS

,

    which had previously led to appendicectomy
    NEG_FINDINGS

.

    Laboratory data
    PARACLINICAL

 finally led to the diagnosis of

    hereditary angioneurotic oedema
    DIAGNOSIS

,

    after several hypotheses had been raised and ruled out
    NEG_FINDINGS

.

    Angioneurotic oedema
    DIAGNOSIS

 is a rare condition, which should be suspected in

    children
    AGE

 with

    recurring abdominal pains
    SYMPTOMS

, especially when there is

    liquid within the peritoneal cavity
    MICROSCOPIC

.

recurring abdominal pains
recurring abdominal pains

hereditary angioneurotic oedema
Angioneurotic oedema


Angio-oedema in dentistry: management of two cases using C1 esterase inhibitor.

Angio-oedema is a rare condition; it may be a hereditary or acquired form. It results from biochemical defects which cause excessive activation of the complement cascade and result in deep swellings in the skin and alimentary tract, called angio-oedema. These swellings are painful rather than itchy and not associated with urticaria, which helps to differentiate angio-oedema from allergic reactions. Even mild trauma can give rise to swelling, which may be life-threatening in the oral region. Management of two cases, one hereditary and the other acquired angio-oedema, are reported to demonstrate the use of C1 esterase inhibitor prophylaxis.

It is important that patients giving a history of angio-oedema are thoroughly investigated and, in discussion with the patient's medical team, appropriate prophylactic measures are taken to prevent swelling.

    Angio-oedema
    DIAGNOSIS

 is a rare condition; it may be a

    hereditary
    GENETICS

 or acquired form. It results from

    biochemical defects
    GENETICS

 which cause

    excessive activation of the complement cascade
    BIOCHEMICAL

 and result in

    deep swellings in the skin and alimentary tract
    SYMPTOMS

, called

    angio-oedema
    SYMPTOMS

. These

    swellings
    SYMPTOMS

 are

    painful rather than itchy
    SYMPTOMS

 and

    not associated with urticaria
    NEG_FINDINGS

, which helps to differentiate

    angio-oedema
    DIAGNOSIS

 from

    allergic reactions
    NEG_FINDINGS

. Even

    mild trauma
    SYMPTOMS

 can give rise to

    swelling, which may be life-threatening in the oral region
    SYMPTOMS

. Management of two cases, one

    hereditary
    DIAGNOSIS

 and the other

    acquired angio-oedema
    DIAGNOSIS

, are reported to demonstrate the use of

    C1 esterase inhibitor prophylaxis
    MEDICATION

.

It is important that patients giving a history of

    angio-oedema
    SYMPTOMS

 are thoroughly investigated and, in discussion with the patient's medical team, appropriate

    prophylactic measures
    MEDICATION

 are taken to

    prevent swelling
    SYMPTOMS

.

Angio-oedema
angio-oedema
hereditary
acquired angio-oedema

not associated with urticaria
allergic reactions

C1 esterase inhibitor prophylaxis
prophylactic measures