[Hereditary angioedema--neglected diagnosis].

Hereditary angioedema caused by C1 esterase inhibitor deficiency is a rare autosomal dominant inherited disorder. It is characterized by recurrent episodes of potentially life-threatening swellings without itching localized in the dermis and submucosa. We report a case of 41 years old woman with hereditary angioedema manifested as episodes of localized skin swellings and painful gastrointestinal colics. This report underlines the fact that hereditary angioedema is underdiagnosed in differential diagnoses. If hereditary angioedema is correctly diagnosed, effective treatment highly improving patients' quality of life is available.

    Hereditary angioedema
    DIAGNOSIS

 caused by

    C1 esterase inhibitor deficiency
    BIOCHEMICAL

 is a

    rare autosomal dominant inherited disorder
    GENETICS

. It is characterized by

    recurrent episodes of potentially life-threatening swellings without itching localized in the dermis and submucosa
    SYMPTOMS

. We report a case of

    41 years old
    AGE

    woman
    GENDER

 with

    hereditary angioedema
    DIAGNOSIS

 manifested as

    episodes of localized skin swellings
    SYMPTOMS

 and

    painful gastrointestinal colics
    SYMPTOMS

. This report underlines the fact that

    hereditary angioedema
    DIAGNOSIS

 is underdiagnosed in

    differential diagnoses
    PARACLINICAL

. If

    hereditary angioedema
    DIAGNOSIS

 is correctly diagnosed, effective treatment highly improving patients' quality of life is available.

Hereditary angioedema
hereditary angioedema
hereditary angioedema
hereditary angioedema


Long-term prophylaxis of hereditary angioedema with a pasteurized C1 inhibitor concentrate.

Hereditary angioedema (HAE) is a relatively rare genetic disorder caused by a deficiency of C1 esterase inhibitor (C1-INH). Common clinical presentations are abdominal pain and localized edema of the skin, with laryngeal edema being potentially life-threatening. Replacement therapy with C1-INH concentrate is recommended for treatment of acute HAE attacks and results in rapid resolution of symptoms. C1-INH concentrate can also be used for prophylaxis of HAE and is recommended in cases where standard prophylactic agents are ineffective or not tolerated. This case study describes the use of C1-INH concentrate as a home therapy for on-demand and prophylactic self-administration in a patient with HAE. This treatment approach was well tolerated and effective, leading to a dramatic improvement in symptoms and improved quality of life.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a relatively

    rare genetic disorder
    GENETICS

 caused by a

    deficiency of C1 esterase inhibitor (C1-INH)
    BIOCHEMICAL

. Common clinical presentations are

    abdominal pain
    SYMPTOMS

 and

    localized edema of the skin
    SYMPTOMS

, with

    laryngeal edema
    SYMPTOMS

 being

    potentially life-threatening
    SYMPTOMS

.

    Replacement therapy with C1-INH concentrate
    MEDICATION

 is recommended for treatment of

    acute HAE attacks
    DIAGNOSIS

 and results in

    rapid resolution of symptoms
    SYMPTOMS

.

    C1-INH concentrate
    MEDICATION

 can also be used for

    prophylaxis
    MEDICATION

    of HAE
    DIAGNOSIS

 and is recommended in cases where

    standard prophylactic agents are ineffective or not tolerated
    NEG_FINDINGS

. This case study describes the

    use of C1-INH concentrate as a home therapy for on-demand and prophylactic self-administration
    MEDICATION

 in a patient with

    HAE
    DIAGNOSIS

. This

    treatment approach
    MEDICATION

 was well tolerated and effective, leading to a

    dramatic improvement in symptoms
    SYMPTOMS

 and

    improved quality of life
    SYMPTOMS

.

Hereditary angioedema (HAE)
acute HAE attacks
of HAE
HAE

abdominal pain
localized edema of the skin
laryngeal edema
potentially life-threatening
rapid resolution of symptoms
dramatic improvement in symptoms
improved quality of life


Angioedema triggered by pulp extirpation--a case report.

C1-esterase inhibitor deficiency results in episodes of non-allergic edema of parts of the body. Edema of the face may be triggered by dental therapy.

We report a case of C1-esterase inhibitor deficiency which was detected in a 42-year-old woman. The patient was completely unaware that she had this disorder or of any related family history, and the patient developed an intense facial angioedema after pulp extirpation of lower premolar tooth.

In this case, the diagnosis of angioedema due to C1-esterase inhibitor deficiency was established at a later stage. The differing causes of C1-esterase inhibitor deficiency are briefly discussed and the treatment modalities outlined.

    C1-esterase inhibitor deficiency
    BIOCHEMICAL

 results in

    episodes of non-allergic edema of parts of the body
    SYMPTOMS

.

    Edema of the face
    SYMPTOMS

 may be triggered by

    dental therapy
    MEDICATION

.

We report a case of

    C1-esterase inhibitor deficiency
    BIOCHEMICAL

 which was detected in a

    42-year-old
    AGE

    woman
    GENDER

. The

    patient was completely unaware that she had this disorder or of any related family history
    NEG_FINDINGS

, and the patient developed an

    intense facial angioedema
    SYMPTOMS

 after

    pulp extirpation of lower premolar tooth
    MEDICATION

.

In this case, the diagnosis of

    angioedema
    DIAGNOSIS

 due to

    C1-esterase inhibitor deficiency
    BIOCHEMICAL

 was established at a later stage. The differing causes of

    C1-esterase inhibitor deficiency
    BIOCHEMICAL

 are briefly discussed and the treatment modalities outlined.

C1-esterase inhibitor deficiency
C1-esterase inhibitor deficiency
C1-esterase inhibitor deficiency
C1-esterase inhibitor deficiency


Successful C1 inhibitor short-term prophylaxis during redo mitral valve replacement in a patient with hereditary angioedema.

Hereditary angioedema is characterized by sudden episodes of nonpitting edema that cause discomfort and pain. Typically the extremities, genitalia, trunk, gastrointestinal tract, face, and larynx are affected by attacks of swelling. Laryngeal swelling carries significant risk for asphyxiation. The disease results from mutations in the C1 esterase inhibitor gene that cause C1 esterase inhibitor deficiency. Attacks of hereditary angioedema result from contact, complement, and fibrinolytic plasma cascade activation, where C1 esterase inhibitor irreversibly binds substrates. Patients with hereditary angioedema cannot replenish C1 esterase inhibitor levels on pace with its binding. When C1 esterase inhibitor is depleted in these patients, vasoactive plasma cascade products cause swelling attacks. Trauma is a known trigger for hereditary angioedema attacks, and patients have been denied surgical procedures because of this risk. However, uncomplicated surgeries have been reported. Appropriate prophylaxis can reduce peri-operative morbidity in these patients, despite proteolytic cascade and complement activation during surgical trauma. We report a case of successful short-term prophylaxis with C1 esterase inhibitor in a 51-year-old man with hereditary angioedema who underwent redo mitral valve reconstructive surgery.

    Hereditary angioedema
    DIAGNOSIS

 is characterized by

    sudden episodes of nonpitting edema
    SYMPTOMS

 that cause

    discomfort and pain
    SYMPTOMS

. Typically the

    extremities, genitalia, trunk, gastrointestinal tract, face, and larynx
    SYMPTOMS

 are affected by

    attacks of swelling
    SYMPTOMS

.

    Laryngeal swelling
    SYMPTOMS

 carries significant risk for

    asphyxiation
    SYMPTOMS

. The disease results from

    mutations in the C1 esterase inhibitor gene
    GENETICS

 that cause

    C1 esterase inhibitor deficiency
    BIOCHEMICAL

. Attacks of

    hereditary angioedema
    DIAGNOSIS

 result from

    contact, complement, and fibrinolytic plasma cascade activation
    BIOCHEMICAL

, where

    C1 esterase inhibitor irreversibly binds substrates
    BIOCHEMICAL

. Patients with

    hereditary angioedema
    DIAGNOSIS

    cannot replenish C1 esterase inhibitor levels on pace with its binding
    BIOCHEMICAL

. When

    C1 esterase inhibitor is depleted
    BIOCHEMICAL

 in these patients,

    vasoactive plasma cascade products
    BIOCHEMICAL

 cause

    swelling attacks
    SYMPTOMS

.

    Trauma
    SYMPTOMS

 is a known trigger for

    hereditary angioedema attacks
    SYMPTOMS

, and patients have been

    denied surgical procedures
    NEG_FINDINGS

 because of this risk. However,

    uncomplicated surgeries
    MEDICATION

 have been reported.

    Appropriate prophylaxis
    MEDICATION

 can reduce

    peri-operative morbidity
    SYMPTOMS

 in these patients, despite

    proteolytic cascade and complement activation
    BIOCHEMICAL

 during

    surgical trauma
    SYMPTOMS

. We report a case of

    successful short-term prophylaxis with C1 esterase inhibitor
    MEDICATION

 in a

    51-year-old
    AGE

    man
    GENDER

 with

    hereditary angioedema
    DIAGNOSIS

 who underwent

    redo mitral valve reconstructive surgery
    MEDICATION

.


Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema.

Hereditary angiooedema is an autosomal dominant disease caused by mutations in the SERPING1 gene. It is characterized by oedemas in different parts of the body, being particularly dangerous when swelling involves the upper airway. Preimplantation genetic diagnosis (PGD) was performed in a couple where the woman carries a deletion of 2.9Kb that includes exon 4 of the SERPING1 gene. Four polymorphic short tandem repeat markers were tested in order to establish the disease-bearing haplotype and three of them were fully informative. Amplification efficiency at the preclinical work up ranged from 71% to 100% for each locus and allele drop out rates were between 0% and 20% for the polymorphic markers. The couple underwent PGD using fluorescent multiplex heminested polymerase chain reaction. Six embryos were biopsied and five of them were diagnosed as healthy. Two embryos were transferred and a singleton pregnancy was achieved, resulting in the birth of a healthy boy.

    Hereditary angiooedema
    DIAGNOSIS

 is an

    autosomal dominant disease
    GENETICS

 caused by

    mutations in the SERPING1 gene
    GENETICS

. It is characterized by

    oedemas in different parts of the body
    SYMPTOMS

, being particularly dangerous when

    swelling involves the upper airway
    SYMPTOMS

.

    Preimplantation genetic diagnosis (PGD)
    MEDICATION

 was performed in a

    couple
    GENDER

 where the

    woman
    GENDER

    carries a deletion of 2.9Kb that includes exon 4 of the SERPING1 gene
    GENETICS

. Four

    polymorphic short tandem repeat markers
    PARACLINICAL

 were tested in order to establish the

    disease-bearing haplotype
    GENETICS

 and three of them were fully informative.

    Amplification efficiency at the preclinical work up
    PARACLINICAL

 ranged from 71% to 100% for each locus and allele drop out rates were between 0% and 20% for the polymorphic markers. The

    couple
    GENDER

 underwent

    PGD
    MEDICATION

 using

    fluorescent multiplex heminested polymerase chain reaction
    PARACLINICAL

. Six embryos were

    biopsied
    PARACLINICAL

 and five of them were diagnosed as healthy.

    Two embryos were transferred
    MEDICATION

 and a

    singleton pregnancy
    DIAGNOSIS

 was achieved, resulting in the birth of a healthy

    boy
    GENDER

.

Hereditary angiooedema
singleton pregnancy

oedemas in different parts of the body
swelling involves the upper airway

Preimplantation genetic diagnosis (PGD)
PGD
Two embryos were transferred


[Acute pancreatitis associated with hereditary angioedema].

Hereditary angioedema (HAE) is an infrequent, recurrent, and potentially lethal disorder caused by a deficiency of C(1) inhibitor or its activity. Abdominal pain secondary to bowel edema is common in these patients. However, a thorough literature search yielded only six previously reported cases of pancreatitis associated with this entity.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is an infrequent, recurrent, and potentially lethal disorder caused by a

    deficiency of C(1) inhibitor or its activity
    BIOCHEMICAL

.

    Abdominal pain secondary to bowel edema
    SYMPTOMS

 is common in these patients. However, a thorough literature search yielded only six previously reported cases of

    pancreatitis
    DIAGNOSIS

 associated with this entity.

Hereditary angioedema (HAE)
pancreatitis


Concomitant administration of simvastatin and danazol associated with fatal rhabdomyolysis.

Simvastatin, a 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitor, is indicated for the treatment of hypercholesterolemia and plays an important role in both the primary and secondary prevention of cardiovascular disease. Danazol is a steroid analogue approved for the treatment of endometriosis, fibrocystic breast disease, and hereditary angioedema. Despite not being licensed, danazol has been used for other off-label indications, such as idiopathic thrombocytopenic purpura (ITP), paroxysmal nocturnal hemoglobinuria, and aplastic anemia.

We report a case of fatal rhabdomyolysis that occurred after concomitant administration of simvastatin and danazol in a patient with ITP.

An 80-year-old white male (height, 182 cm; weight, 90 kg) presented to the emergency department of the Clinical Hospital Centre Zemun, Belgrade, Serbia, with head injuries after an accidental fall caused by generalized weakness. He denied other complaints, except fatigue, mild pretibial edema, and progressive bilateral leg pain and cramping that began 7 days before. At the time of presentation, he was receiving aspirin 100 mg/d, clopidogrel 75 mg/d, ramipril 2.5 mg/d, pantoprazole 40 mg/d, danazol 600 mg/d, prednisone 60 mg/d, simvastatin 40 mg/d, and long-acting insulin 24 IU/d. After the injuries were treated, he was diagnosed with collapse and nasal contusion, and discharged without any changes in his therapy. Two days after initial presentation, the patient was readmitted to the hospital due to nausea, dark urine, and oliguria. All clinical signs (oliguria, dark urine, muscle pain, and tenderness) and laboratory markers (creatine kinase levels approximately 100 times the upper limit of normal, along with hyperkalemia, hyperphosphatemia, and hypoalbuminemia) were consistent with severe rhabdomyolysis. Despite intravenous hydration, forced diuresis, and hemodialysis, oliguria persisted and the patient died 6 days after admission. A score of 5 on the Naranjo adverse drug reaction probability scale was consistent with a probable association of rhabdomyolysis and concomitant treatment with simvastatin and danazol in this patient.

Statin-induced rhabdomyolysis must be considered whenever muscle or motor symptoms occur, especially when concomitant treatment with known inhibitors of statin metabolism is administered. Patients must be strictly monitored and the statin should be promptly discontinued with the onset of first signs and symptoms of myopathy. Clinicians should be aware of the potentially fatal consequences of both approved and unapproved treatments and be alert for the early detection of toxicity.

    Simvastatin, a 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitor
    MEDICATION

, is indicated for the treatment of

    hypercholesterolemia
    MEDICATION

 and plays an important role in both the primary and secondary prevention of

    cardiovascular disease
    DIAGNOSIS

.

    Danazol
    MEDICATION

 is a

    steroid analogue
    MEDICATION

 approved for the treatment of

    endometriosis
    DIAGNOSIS

,

    fibrocystic breast disease
    DIAGNOSIS

, and

    hereditary angioedema
    DIAGNOSIS

. Despite not being licensed,

    danazol
    MEDICATION

 has been used for other off-label indications, such as

    idiopathic thrombocytopenic purpura (ITP)
    DIAGNOSIS

,

    paroxysmal nocturnal hemoglobinuria
    DIAGNOSIS

, and

    aplastic anemia
    DIAGNOSIS

.

We report a case of

    fatal rhabdomyolysis
    DIAGNOSIS

 that occurred after

    concomitant administration of simvastatin and danazol
    MEDICATION

 in a patient with

    ITP
    DIAGNOSIS

.

An

    80-year-old
    AGE

    white
    ETHNICITY

    male
    GENDER

 (height, 182 cm; weight, 90 kg) presented to the emergency department of the Clinical Hospital Centre Zemun,

    Belgrade
    ETHNICITY

,

    Serbia
    ETHNICITY

, with

    head injuries
    SYMPTOMS

 after an

    accidental fall
    SYMPTOMS

 caused by

    generalized weakness
    SYMPTOMS

.

    He
    GENDER

    denied other complaints
    NEG_FINDINGS

, except

    fatigue
    SYMPTOMS

,

    mild pretibial edema
    SYMPTOMS

, and

    progressive bilateral leg pain and cramping
    SYMPTOMS

 that began 7 days before. At the time of presentation,

    he
    GENDER

 was receiving aspirin 100 mg/d, clopidogrel 75 mg/d, ramipril 2.5 mg/d, pantoprazole 40 mg/d, danazol 600 mg/d, prednisone 60 mg/d, simvastatin 40 mg/d, and long-acting insulin 24 IU/d. After the injuries were treated,

    he
    GENDER

 was diagnosed with

    collapse
    SYMPTOMS

 and

    nasal contusion
    SYMPTOMS

, and

    discharged
    MEDICATION

    without any changes in his therapy
    NEG_FINDINGS

. Two days after initial presentation, the patient was readmitted to the hospital due to

    nausea
    SYMPTOMS

,

    dark urine
    SYMPTOMS

, and

    oliguria
    BIOCHEMICAL

. All clinical signs (

    oliguria
    SYMPTOMS

,

    dark urine
    SYMPTOMS

,

    muscle pain, and tenderness
    SYMPTOMS

) and

    laboratory markers
    BIOCHEMICAL

 (

    creatine kinase levels approximately 100 times the upper limit of normal
    BIOCHEMICAL

, along with

    hyperkalemia, hyperphosphatemia, and hypoalbuminemia
    BIOCHEMICAL

) were consistent with

    severe rhabdomyolysis
    DIAGNOSIS

.

    Despite intravenous hydration
    NEG_FINDINGS

,

    forced diuresis
    MEDICATION

, and

    hemodialysis
    MEDICATION

,

    oliguria
    BIOCHEMICAL

    persisted
    SYMPTOMS

 and the patient

    died
    SYMPTOMS

 6 days after admission. A score of 5 on the Naranjo adverse drug reaction probability scale was consistent with a

    probable association of rhabdomyolysis
    DIAGNOSIS

 and

    concomitant treatment with simvastatin and danazol
    MEDICATION

 in this patient.

    Statin-induced rhabdomyolysis
    DIAGNOSIS

 must be considered whenever

    muscle or motor symptoms
    SYMPTOMS

 occur, especially when

    concomitant treatment with known inhibitors of statin metabolism
    MEDICATION

 is administered. Patients must be strictly monitored and the

    statin
    MEDICATION

 should be promptly discontinued with the onset of

    first signs and symptoms of myopathy
    SYMPTOMS

. Clinicians should be aware of the potentially fatal consequences of both approved and unapproved treatments and be alert for the early detection of

    toxicity
    SYMPTOMS

.

denied other complaints
without any changes in his therapy
Despite intravenous hydration


Abdominal symptoms of hereditary angioedema and early weaning.

Hereditary angioedema (HAE), a condition caused by deficiency of C1 inhibitor that results in acute and painful swelling in locations that can include the face, neck, abdomen, extremities and genitals, is a potentially life-threatening disorder. Many factors may contribute to phenotype development. A case report prompted us to investigate the potential influence of early weaning on HAE gastrointestinal symptoms. Retrospective analysis was performed based on clinical data from 89 patients registered with our HAE center, including duration of breast-feeding, timing of cow's milk introduction, age at symptom onset and localization of the attacks. We did not find any relationship between these factors. Although breastfeeding is known to confer protection against numerous diseases, it showed no efficacy against the manifestations of HAE in our patient population.

    Hereditary angioedema (HAE)
    DIAGNOSIS

, a condition caused by

    deficiency of C1 inhibitor
    BIOCHEMICAL

 that results in

    acute and painful swelling in locations that can include the face, neck, abdomen, extremities and genitals
    SYMPTOMS

, is a potentially life-threatening disorder. Many factors may contribute to phenotype development. A case report prompted us to investigate the potential influence of

    early weaning
    MEDICATION

 on

    HAE gastrointestinal symptoms
    DIAGNOSIS

. Retrospective analysis was performed based on clinical data from 89 patients registered with our

    HAE
    DIAGNOSIS

 center, including

    duration of breast-feeding
    MEDICATION

,

    timing of cow's milk introduction
    MEDICATION

, age at symptom onset and localization of the attacks. We did not find any relationship between these factors. Although

    breastfeeding
    MEDICATION

 is known to confer protection against numerous diseases, it showed

    no efficacy against the manifestations of HAE
    NEG_FINDINGS

 in our patient population.

Hereditary angioedema (HAE)
HAE gastrointestinal symptoms
HAE

early weaning
duration of breast-feeding
timing of cow's milk introduction
breastfeeding


Angioedema in a child with a liver transplant, intussusception, and normal c4 levels.

Swelling is a common chief complaint among patients. Swelling and hives are not typical of hereditary angioedema. Organ transplantation drugs are associated with angiodema and may complicate diagnosis. Our objective was to manage a complex case of angioedema in a setting of rashes and liver transplantation. We present an illustrative case of angioedema, rashes, and intussusception in a setting of a liver transplant and tacrolimus use with a family history of autoimmune disease. Treatment with the kallikrein inhibitor, kalbitor, eliminated angioedema and intussusception, though not permanently. Serial C1 esterase [corrected] inhibitor levels were only suppressed during severe attacks of angioedema. C1q autoantibody was elevated. Although 95% of cases of hereditary angioedema (HAE) have low [corrected] C4 levels, those with C1q immune complexes have autoantibodies leading to low-grade inflammation and eventual consumption of C1 esterase inhibitor levels with C4 unaffected. Rashes associated with angioedema are not urticarial. Physicians should learn to recognize the signs of attacks of HAE.

    Swelling
    SYMPTOMS

 is a common chief complaint among patients.

    Swelling and hives
    SYMPTOMS

 are not typical of

    hereditary angioedema
    NEG_FINDINGS

.

    Organ transplantation drugs
    MEDICATION

 are associated with

    angiodema
    DIAGNOSIS

 and may complicate diagnosis. Our objective was to manage a complex case of

    angioedema
    DIAGNOSIS

 in a setting of

    rashes
    SYMPTOMS

 and

    liver transplantation
    MEDICATION

. We present an illustrative case of

    angioedema
    SYMPTOMS

,

    rashes
    SYMPTOMS

, and

    intussusception
    SYMPTOMS

 in a setting of a

    liver transplant
    MEDICATION

 and

    tacrolimus use
    MEDICATION

 with a

    family history of autoimmune disease
    FAMILY

.

    Treatment with the kallikrein inhibitor, kalbitor
    MEDICATION

,

    eliminated angioedema and intussusception
    SYMPTOMS

    , though not permanently
    NEG_FINDINGS

.

    Serial C1 esterase [corrected] inhibitor levels were only suppressed
    BIOCHEMICAL

 during

    severe attacks of angioedema
    SYMPTOMS

.

    C1q autoantibody was elevated
    BIOCHEMICAL

. Although 95% of cases of

    hereditary angioedema (HAE)
    DIAGNOSIS

 have

    low [corrected] C4 levels
    BIOCHEMICAL

, those with

    C1q immune complexes
    BIOCHEMICAL

 have

    autoantibodies
    BIOCHEMICAL

 leading to

    low-grade inflammation
    BIOCHEMICAL

 and eventual

    consumption of C1 esterase inhibitor levels with C4 unaffected
    BIOCHEMICAL

.

    Rashes associated with angioedema
    SYMPTOMS

 are

    not urticarial
    NEG_FINDINGS

. Physicians should learn to recognize the signs of attacks of

    HAE
    DIAGNOSIS

.

hereditary angioedema
, though not permanently
not urticarial

angiodema
angioedema
hereditary angioedema (HAE)
HAE


Delayed diagnosis of hereditary angioedema.

Hereditary angioedema (HAE) is a rare and potentially fatal disease that is important to recognize early. It is usually associated with low levels or impaired function of C1 inhibitor, which is involved in several inflammatory pathways. The treatment of HAE is very different from other causes of angioedema, emphasizing the importance of early and accurate diagnosis. The authors report the case of a patient who had symptoms starting in his teens but was not diagnosed until the age of 57 years. They also review the consequences of delayed diagnosis of HAE.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a rare and potentially fatal disease that is important to recognize early. It is usually associated with

    low levels or impaired function of C1 inhibitor, which is involved in several inflammatory pathways
    BIOCHEMICAL

. The treatment of

    HAE
    DIAGNOSIS

 is very different from other causes of

    angioedema
    DIAGNOSIS

, emphasizing the importance of early and accurate diagnosis. The authors report the case of a patient who had

    symptoms starting in his teens
    SYMPTOMS

 but was not diagnosed until the

    age of 57 years
    AGE

. They also review the consequences of delayed diagnosis of

    HAE
    DIAGNOSIS

.

Hereditary angioedema (HAE)
HAE
angioedema
HAE


Perioperative management of a patient with hereditary angioedema during off-pump coronary artery bypass graft surgery.

The case of a patient with hereditary angioedema (HAE), a rare, life-threatening disorder caused by reduced activity of the C1 esterase inhibitor, and requiring off-pump coronary artery bypass graft (OP-CABG) surgery, is presented. Perioperative management of patients with HAE who undergo complex cardiac surgical procedures are discussed, including an OP-CABG surgical approach to decrease complement activation, fresh-frozen plasma administration to increase C1 esterase inhibitor activity, and administration of reduced doses of heparin and protamine to minimize heparin-protamine complex formation.

The case of a patient with

    hereditary angioedema (HAE)
    DIAGNOSIS

, a rare, life-threatening disorder caused by

    reduced activity of the C1 esterase inhibitor
    BIOCHEMICAL

, and requiring

    off-pump coronary artery bypass graft (OP-CABG) surgery
    MEDICATION

, is presented. Perioperative management of patients with

    HAE
    DIAGNOSIS

 who undergo

    complex cardiac surgical procedures
    MEDICATION

 are discussed, including an

    OP-CABG surgical approach
    MEDICATION

 to

    decrease complement activation
    BIOCHEMICAL

,

    fresh-frozen plasma administration to increase C1 esterase inhibitor activity
    MEDICATION

, and

    administration of reduced doses of heparin and protamine to minimize heparin-protamine complex formation
    MEDICATION

.


Vanishing tumour of the colon ascendens due to acquired type II C1-inhibitor deficiency.

We present a patient with recurrent bouts of angioedema of the lips, throat and extremities with a negative familial history for angioedema. Laboratory results confirmed an angioedema due to acquired C1-INH deficiency (or acquired angioedema, AAE). As AAE can result from underlying disease, further investigation toward malignancy was initiated. A CT-scan of the abdomen disclosed a circumferential tumour of the proximal segment of the colon ascendens which disappeared by the time an ileocolonoscopy was executed. Angioedema of the bowel has been widely reported in hereditary angioedema, whereas it is anecdotal in AAE.

We present a patient with

    recurrent bouts of angioedema of the lips, throat and extremities
    SYMPTOMS

 with a

    negative familial history for angioedema
    NEG_FINDINGS

.

    Laboratory results
    PARACLINICAL

 confirmed an

    angioedema
    DIAGNOSIS

 due to

    acquired C1-INH deficiency
    BIOCHEMICAL

 (or

    acquired angioedema, AAE)
    DIAGNOSIS

. As

    AAE
    DIAGNOSIS

 can result from underlying disease, further investigation toward

    malignancy
    DIAGNOSIS

 was initiated. A

    CT-scan of the abdomen
    PARACLINICAL

 disclosed a

    circumferential tumour of the proximal segment of the colon ascendens
    SYMPTOMS

 which disappeared by the time an

    ileocolonoscopy
    PARACLINICAL

 was executed.

    Angioedema of the bowel
    SYMPTOMS

 has been widely reported in

    hereditary angioedema
    DIAGNOSIS

, whereas it is anecdotal in

    AAE
    DIAGNOSIS

.

angioedema
acquired angioedema, AAE)
AAE
malignancy
hereditary angioedema
AAE


Obstetrical Complications and Outcome in Two Families with Hereditary Angioedema due to Mutation in the F12 Gene.

Backgroud. Hereditary angioedema (HAE) is characterized by recurrent swelling of the skin, the abdomen (causing severe acute pain), and the airways. A recently discovered type caused by mutations in the factor XII gene (designated as HAE type III) occurs mainly in women. Estrogens may play an important role, but few obstetrical complications have been reported. Case. We report the symptoms and obstetrical complications of women in two families with HAE attributable to the p. Thr328Lys mutation in the F12 gene. Clinical manifestations included acute and severe maternal abdominal pain, with transient ascites, laryngeal edema, and fetal and neonatal deaths. Patients had normal C4 levels and a normal C1 inhibitor gene. Administration of C1-inhibitor concentration twice monthly decreased the attack rate in one mother, and its predelivery administration (1000 U) led to the delivery of healthy girls. Conclusions. Obstetricians and anesthesiologists should be aware of this rare cause of unexplained maternal ascites and in utero or fetal death associated with edema.

    Backgroud
    SYMPTOMS

.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is characterized by

    recurrent swelling of the skin, the abdomen (causing severe acute pain), and the airways
    SYMPTOMS

. A recently discovered type caused by

    mutations in the factor XII gene
    GENETICS

 (designated as

    HAE type III)
    DIAGNOSIS

 occurs mainly in

    women
    GENDER

.

    Estrogens
    GENDER

 may play an important role, but few

    obstetrical complications
    SYMPTOMS

 have been reported. Case. We report the symptoms and

    obstetrical complications
    SYMPTOMS

 of

    women
    GENDER

 in two families with

    HAE
    DIAGNOSIS

 attributable to the

    p. Thr328Lys mutation in the F12 gene
    GENETICS

. Clinical manifestations included

    acute and severe maternal abdominal pain
    SYMPTOMS

, with

    transient ascites
    SYMPTOMS

,

    laryngeal edema
    SYMPTOMS

, and

    fetal and neonatal deaths
    SYMPTOMS

. Patients had

    normal C4 levels
    NEG_FINDINGS

 and a

    normal C1 inhibitor gene
    NEG_FINDINGS

.

    Administration of C1-inhibitor concentration twice monthly
    MEDICATION

 decreased the attack rate in one mother, and

    its predelivery administration (1000 U)
    MEDICATION

 led to the

    delivery of healthy girls
    MEDICATION

. Conclusions.

    Obstetricians
    PARACLINICAL

 and

    anesthesiologists
    PARACLINICAL

 should be aware of this rare cause of

    unexplained maternal ascites
    SYMPTOMS

 and

    in utero or fetal death associated with edema
    SYMPTOMS

.

Hereditary angioedema (HAE)
HAE type III)
HAE

mutations in the factor XII gene
p. Thr328Lys mutation in the F12 gene

normal C4 levels
normal C1 inhibitor gene


Characterization of acute hereditary angioedema attacks during pregnancy and breast-feeding and their treatment with C1 inhibitor concentrate.

The objective of the study was to investigate the rates and characteristics of hereditary angioedema (HAE) attacks associated with pregnancy, delivery, and the postpartum period and their treatment with C1 esterase inhibitor (INH) concentrate.

This was an observational study including 22 women with type I HAE, with data collected before, during, and after 35 pregnancies (37 children) based on patient diaries, interviews, and case report forms.

In 83% of pregnancies, attack rates increased during pregnancy; highest mean rates occurred in the second and third trimesters. C1-INH concentrate effectively controlled attacks and was safe for mothers and children. Low-plasma C1-INH activity during pregnancy tended to be associated with an increased chance of giving birth to a child with HAE.

Increased attack rates during pregnancy in women with HAE are well controlled with C1-INH concentrate, indicating the clear benefit of integrating the availability of C1-INH concentrate into the management plan for these women during pregnancy and delivery.

The objective of the study was to investigate the rates and characteristics of

    hereditary angioedema (HAE) attacks
    DIAGNOSIS

 associated with

    pregnancy
    DIAGNOSIS

, delivery, and the postpartum period and their treatment with

    C1 esterase inhibitor (INH) concentrate
    MEDICATION

.

This was an observational study including 22

    women
    GENDER

 with

    type I HAE
    DIAGNOSIS

, with data collected before, during, and after 35 pregnancies (37 children) based on

    patient diaries, interviews
    PARACLINICAL

, and case report forms.

In 83% of

    pregnancies
    DIAGNOSIS

, attack rates increased during

    pregnancy
    AGE

; highest mean rates occurred in the

    second and third trimesters
    AGE

.

    C1-INH concentrate
    MEDICATION

 effectively

    controlled attacks
    SYMPTOMS

 and was safe for mothers and children.

    Low-plasma C1-INH activity
    BIOCHEMICAL

 during

    pregnancy
    DIAGNOSIS

 tended to be associated with an increased chance of

    giving birth to a child with HAE
    FAMILY

.

Increased attack rates during

    pregnancy
    SYMPTOMS

 in

    women
    GENDER

 with

    HAE
    DIAGNOSIS

 are well controlled with

    C1-INH concentrate
    MEDICATION

, indicating the clear benefit of integrating the

    availability of C1-INH concentrate
    MEDICATION

 into the management plan for these

    women
    GENDER

 during

    pregnancy
    MEDICATION

 and

    delivery
    MEDICATION

.

hereditary angioedema (HAE) attacks
pregnancy
type I HAE
pregnancies
pregnancy
HAE

C1 esterase inhibitor (INH) concentrate
C1-INH concentrate
C1-INH concentrate
availability of C1-INH concentrate
pregnancy
delivery


Management of a dentigerous cyst in a child with hereditary angioedema.

The purpose of this paper was to report the case of an 8-year-old girl with hereditary angioedema (HAE) who underwent 2 oral surgeries for removal of a dentigerous cyst without any significant episode of angioedema. One week after routine radiographic examination revealed an odontogenic cyst, short-term prophylactic therapy (Danazol 600 mg/day) was initiated to avoid an angioedema attack. The cyst was carefully removed under general anesthesia without life-threatening complications. Postoperative prophylactic therapy also was performed. Histopathological exam confirmed the diagnosis of a dentigerous cyst. Nine months after surgery, the cyst recurred and it was successfully removed once more under general anesthesia. The same prophylactic therapy was used, this time with fresh frozen plasma. The case presented showed that the oral management of a pediatric patient with HAE is a high-risk procedure. It can be performed successfully, however, when the involved health professionals are aware of both the risks and preventive strategies.

The purpose of this paper was to report the case of an

    8-year-old
    AGE

    girl
    GENDER

 with

    hereditary angioedema (HAE)
    DIAGNOSIS

 who underwent

    2 oral surgeries
    MEDICATION

 for

    removal of a dentigerous cyst
    MEDICATION

    without any significant episode of angioedema
    NEG_FINDINGS

. One week after

    routine radiographic examination
    PARACLINICAL

 revealed an

    odontogenic cyst
    DIAGNOSIS

,

    short-term prophylactic therapy (Danazol 600 mg/day)
    MEDICATION

 was initiated to avoid an

    angioedema attack
    NEG_FINDINGS

.

    The cyst
    MEDICATION

 was

    carefully removed under general anesthesia
    MEDICATION

    without life-threatening complications
    NEG_FINDINGS

.

    Postoperative prophylactic therapy
    MEDICATION

 also was performed.

    Histopathological exam
    PARACLINICAL

 confirmed the diagnosis of a

    dentigerous cyst
    DIAGNOSIS

. Nine months after

    surgery
    MEDICATION

,

    the cyst recurred
    SYMPTOMS

 and

    it was successfully removed once more under general anesthesia
    MEDICATION

.

    The same prophylactic therapy was used, this time with fresh frozen plasma
    MEDICATION

. The case presented showed that the

    oral management
    MEDICATION

 of a

    pediatric
    AGE

 patient with

    HAE
    DIAGNOSIS

 is a high-risk procedure. It can be performed successfully, however, when the involved health professionals are aware of both the risks and preventive strategies.

hereditary angioedema (HAE)
odontogenic cyst
dentigerous cyst
HAE


Hereditary angioedema: treatment, management, and precautions in patients presenting for dental care.

Hereditary angioedema (HAE) is a nonhistamine-mediated process causing edema of the tissues of the upper airway, dermis, and subcutaneous tissue. As such it does not respond well to epinephrine, antihistamines, or glucocorticoids. Instead it is treated with attenuated androgenic hormones, episolone aminocaproic acid (EACA), or tranexamic acid, C1 esterase inhibitor, and fresh-frozen plasma. Medical or surgical management of the airway may be necessary in an acute situation. Minor trauma, such as that associated with dental procedures and psychologic stress, may precipitate an attack; however, swelling may not manifest itself for 12-48 hours after a procedure. Symptoms of angioedema may be exacerbated in these patients if they are given an angiotensin-converting enzyme inhibitor. This paper reviews this entity and presents 2 patients who presented for acute care with dental/oral surgical complaints.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a

    nonhistamine-mediated process
    DIAGNOSIS

 causing

    edema of the tissues of the upper airway, dermis, and subcutaneous tissue
    SYMPTOMS

. As such it

    does not respond well to epinephrine, antihistamines, or glucocorticoids
    NEG_FINDINGS

. Instead it is treated with

    attenuated androgenic hormones, episolone aminocaproic acid (EACA), or tranexamic acid, C1 esterase inhibitor, and fresh-frozen plasma
    MEDICATION

.

    Medical or surgical management of the airway
    MEDICATION

 may be necessary in an acute situation.

    Minor trauma
    SYMPTOMS

, such as that associated with

    dental procedures
    MEDICATION

 and

    psychologic stress
    SYMPTOMS

, may precipitate an attack; however,

    swelling may not manifest itself for 12-48 hours after a procedure
    NEG_FINDINGS

.

    Symptoms of angioedema
    SYMPTOMS

 may be exacerbated in these patients if they are given an

    angiotensin-converting enzyme inhibitor
    MEDICATION

. This paper reviews this entity and presents 2 patients who presented for acute care with

    dental/oral surgical complaints
    SYMPTOMS

.

Hereditary angioedema (HAE)
nonhistamine-mediated process


Anesthesia management for emergency laparotomy in a pediatric patient with suspected hereditary angioedema.

Hereditary angioedema (HAE) is caused by complement factor 1 inhibitor (C1-INH) deficiency, and its mode of inheritance is autosomal dominant. We present a case of an 8-year-old patient who required emergency laparotomy after a traffic accident. General anesthesia with tracheal intubation was necessary. The patient's mother and maternal grandmother had been diagnosed with HAE. HAE is associated with high mortality when airway edema is caused by tracheal intubation. It was impossible to rule out HAE preoperatively in the patient. Therefore, we presumed that he had HAE and treated him with pasteurized C1-INH concentrate. The patient underwent laparotomy uneventfully. Several days after the operation, the laboratory data revealed that the perioperative plasma complement 1 q subunit (C1q) protein level and C1-INH function were not lowered. The diagnosis of HAE was not confirmed, but it was not possible to rule out the diagnosis either. The prophylactic use of a C1-INH in this case may be justified, because the procedure was an emergency and because of the high mortality associated with tracheal intubation in patients with HAE.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is caused by

    complement factor 1 inhibitor (C1-INH) deficiency
    BIOCHEMICAL

, and its

    mode of inheritance is autosomal dominant
    GENETICS

. We present a case of an

    8-year-old
    AGE

 patient who required

    emergency laparotomy
    MEDICATION

 after a

    traffic accident
    MEDICATION

.

    General anesthesia with tracheal intubation
    MEDICATION

 was necessary. The patient's mother and maternal grandmother had been diagnosed with HAE.

    HAE
    DIAGNOSIS

 is associated with high mortality when

    airway edema
    SYMPTOMS

 is caused by

    tracheal intubation
    MEDICATION

.

    It was impossible to rule out HAE preoperatively in the patient
    NEG_FINDINGS

. Therefore, we presumed that

    he
    GENDER

 had

    HAE
    DIAGNOSIS

 and treated

    him
    GENDER

 with

    pasteurized C1-INH concentrate
    MEDICATION

. The patient underwent

    laparotomy uneventfully
    MEDICATION

. Several days after the operation, the

    laboratory data
    PARACLINICAL

 revealed that the

    perioperative plasma complement 1 q subunit (C1q) protein level and C1-INH function were not lowered
    BIOCHEMICAL

. The diagnosis of

    HAE
    DIAGNOSIS

 was not confirmed, but it was not possible to rule out the diagnosis either. The

    prophylactic use of a C1-INH
    MEDICATION

 in this case may be justified, because the procedure was an emergency and because of the high mortality associated with

    tracheal intubation
    MEDICATION

 in patients with

    HAE
    DIAGNOSIS

.

Hereditary angioedema (HAE)
HAE
HAE
HAE
HAE


Hereditary angioedema: three cases report, members of the same family.

This current clinical case report highlights three cases of Hereditary angioedema (HAE) patients who are all members of the same family (father and his two daughters). The father has C1-INH deficiency, while his daughters have low C1-INH levels: the first possesses only 10% function and the second has low C1-INH level with 0% function. Of note, the second daughter was discovered to have HAE at the age of 2, thus making her the youngest known HAE case report in the English literature.

Assess the efficacy of administration of C1-INH before dental operation as regards the prevention of HAE episode, when total or partial C1-INH deficiency exist.

Acute angioedema leading to laryngeal oedema is a possibly fatal complication for HAE patients undergoing dental procedures. Use of both short-term and long-term HAE prophylaxis prior to dental operations might be life saving for those patients.

Prevention and early recognition of potential laryngeal oedema that can occur as a complication of dental procedures may be lifesaving for HAE patients.

This current clinical case report highlights three cases of

    Hereditary angioedema (HAE)
    DIAGNOSIS

 patients who

    are all members of the same family (father and his two daughters)
    FAMILY

. The

    father
    GENDER

 has

    C1-INH deficiency
    BIOCHEMICAL

, while

    his
    GENDER

    daughters
    GENDER

 have

    low C1-INH levels
    BIOCHEMICAL

: the first

    possesses only 10% function
    BIOCHEMICAL

 and the second has

    low C1-INH level with 0% function
    BIOCHEMICAL

. Of note, the

    second daughter was discovered to have HAE at the age of 2
    FAMILY

, thus making

    her
    GENDER

 the youngest known

    HAE
    DIAGNOSIS

 case report in the English literature.

Assess the efficacy of

    administration of C1-INH before dental operation
    MEDICATION

 as regards the prevention of

    HAE episode
    SYMPTOMS

, when

    total or partial C1-INH deficiency exist
    BIOCHEMICAL

.

    Acute angioedema
    DIAGNOSIS

 leading to

    laryngeal oedema
    SYMPTOMS

 is a possibly fatal complication for

    HAE
    DIAGNOSIS

 patients undergoing

    dental procedures
    MEDICATION

.

    Use of both short-term and long-term HAE prophylaxis prior to dental operations
    MEDICATION

 might be life saving for those patients.

Prevention and early recognition of

    potential laryngeal oedema
    SYMPTOMS

 that can occur as a complication of

    dental procedures
    MEDICATION

 may be lifesaving for

    HAE
    DIAGNOSIS

 patients.

Hereditary angioedema (HAE)
HAE
Acute angioedema
HAE
HAE

HAE episode
laryngeal oedema
potential laryngeal oedema


[A case of difficult-to-diagnose hereditary angioedema].

Hereditary angioedema (HAE) due to an inherited C1-inhibitor (C1-INH) deficiency causes localized swelling of the oral cavity, pharynx, larynx, and face, that may be life-threatening when the larynx is involved. A 26-year-old woman seen 3 times previously for pharyngeal or laryngeal edema while in her teens, and seen this time for dyspnea was found in computed tomography (CT) to have esophageal edema and pleural effusion. Her C1-INH activity was low, yielding a definitive diagnosis of HAE for her 10-year-plus-disease history. n mind in th e f idiopathicedema. should be kept i While it is comparatively rare, HAE differential diagnosis o

    Hereditary angioedema (HAE)
    DIAGNOSIS

 due to an

    inherited C1-inhibitor (C1-INH) deficiency
    GENETICS

 causes

    localized swelling of the oral cavity, pharynx, larynx, and face
    SYMPTOMS

, that may be

    life-threatening
    SYMPTOMS

 when the

    larynx is involved
    SYMPTOMS

. A

    26-year-old
    AGE

    woman
    GENDER

 seen 3 times previously for

    pharyngeal or laryngeal edema
    SYMPTOMS

    while in her teens
    AGE

, and seen this time for

    dyspnea
    SYMPTOMS

 was found in

    computed tomography (CT)
    PARACLINICAL

 to have

    esophageal edema
    SYMPTOMS

 and

    pleural effusion
    SYMPTOMS

.

    Her
    GENDER

    C1-INH activity was low
    BIOCHEMICAL

, yielding a definitive diagnosis of

    HAE
    DIAGNOSIS

 for

    her
    GENDER

    10-year-plus-disease
    AGE

 history. n mind in th e f

    idiopathicedema
    DIAGNOSIS

. should be kept i While it is comparatively rare,

    HAE differential diagnosis
    DIAGNOSIS

 o

Hereditary angioedema (HAE)
HAE
idiopathicedema
HAE differential diagnosis


Supplementation of C1-esterase inhibitor concentrates for a patient suffering from hereditary angioedema undergoing complex open-heart surgery.

Hereditary angioedema (HAE) is an autosomal dominantly inherited deficiency of C1-inhibitor, and it is an extremely rare condition. During surgery, oedema can be induced by a variety of stresses, and a high mortality rate has been reported. Since open-heart surgery involves cardiopulmonary bypass, the inflammatory response and complement activity are increased, meaning that an even greater risk can be anticipated. Perhaps for this reason, the only reports to date of cases of open-heart surgery have been cases of short-term cardiopulmonary bypass or off-pump coronary artery bypass grafting (CABG). We provide the first report of long-term cardiopulmonary bypass (longer than 5h) for open-heart surgery in a patient with HAE that did not result in any postoperative decline in respiratory function, systemic oedema, laryngeal oedema or similar complications, and a favourable outcome was obtained.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is an

    autosomal dominantly inherited
    GENETICS

    deficiency of C1-inhibitor
    BIOCHEMICAL

, and it is an extremely rare condition. During

    surgery
    MEDICATION

,

    oedema
    SYMPTOMS

 can be induced by a variety of stresses, and a high mortality rate has been reported. Since

    open-heart surgery
    MEDICATION

 involves

    cardiopulmonary bypass
    MEDICATION

, the

    inflammatory response and complement activity
    BIOCHEMICAL

 are increased, meaning that an even greater risk can be anticipated. Perhaps for this reason, the only reports to date of cases of

    open-heart surgery
    MEDICATION

 have been cases of

    short-term cardiopulmonary bypass or off-pump coronary artery bypass grafting (CABG)
    MEDICATION

. We provide the first report of

    long-term cardiopulmonary bypass (longer than 5h) for open-heart surgery
    MEDICATION

 in a patient with

    HAE
    DIAGNOSIS

 that did

    not result in any postoperative decline in respiratory function
    NEG_FINDINGS

,

    systemic oedema
    SYMPTOMS

,

    laryngeal oedema
    SYMPTOMS

    or similar complications
    NEG_FINDINGS

, and a favourable outcome was obtained.


Peri-operative management of a patient with hereditary angioedema undergoing laparoscopic cholecystectomy.

Hereditary angioedema is a rare genetic disorder resulting from an inherited deficiency or dysfunction of the C1-esterase inhibitor of the classic complement pathway. It is characterised by recurrent episodes of angioedema, without urticaria or pruritus, most often affecting the skin or the mucosal tissues of the upper respiratory and gastrointestinal tracts. We describe the peri-operative care of a woman with hereditary angioedema undergoing laparoscopic cholecystectomy with emphasis on the role of anaesthetists as peri-operative physicians.

    Hereditary angioedema
    DIAGNOSIS

 is a

    rare genetic disorder
    GENETICS

 resulting from an

    inherited deficiency or dysfunction of the C1-esterase inhibitor of the classic complement pathway
    GENETICS

. It is characterised by

    recurrent episodes of angioedema
    SYMPTOMS

,

    without urticaria or pruritus
    NEG_FINDINGS

, most often

    affecting the skin or the mucosal tissues of the upper respiratory and gastrointestinal tracts
    SYMPTOMS

. We describe the

    peri-operative care
    MEDICATION

 of a

    woman
    GENDER

 with

    hereditary angioedema
    DIAGNOSIS

 undergoing

    laparoscopic cholecystectomy
    MEDICATION

 with emphasis on the role of

    anaesthetists
    PARACLINICAL

 as

    peri-operative physicians
    PARACLINICAL

.

Hereditary angioedema
hereditary angioedema

peri-operative care
laparoscopic cholecystectomy


Variability of prodromal signs and symptoms associated with hereditary angioedema attacks: a literature review.

Hereditary angioedema (HAE) is a rare disease caused by deficiency in the production or function of C1 inhibitor. It predisposes individuals to paroxysmal acute attacks causing painful, debilitating, disfiguring, and life-threatening angioedema. Prodromes occurring hours to days before attacks have been described in the literature; however, their significance as predictive signals of impending attacks is uncertain. Given the morbidity and mortality associated with HAE attacks and the increasing availability of therapeutic products for their treatment, identifying prodromes that accurately predict the onset of attacks could provide the basis for the development of a validated instrument to identify the onset of such attacks requiring abortive therapeutic intervention before the development of clinically significant angioedema. The aim of this study was to review the literature to identify the prodromes reported to occur with HAE attacks. A literature review of English language journal articles was performed using search terms hereditary angioedema, HAE, angioneurotic edema, prodrome, signs, and symptoms. Nineteen original English language articles that included both case reports and studies describing prodromes associated with HAE attacks were obtained. Our review indicates that there is significant variability in the expression, manifestation, prevalence, timing, and predictive reliability of the prodromes that have been described. There is considerable variability of the prodromal manifestations that may occur before or during HAE attacks. We have not found any evidence that their sensitivity and specificity for accurately predicting such attacks has been studied.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a rare disease caused by

    deficiency in the production or function of C1 inhibitor
    BIOCHEMICAL

. It predisposes individuals to

    paroxysmal acute attacks
    SYMPTOMS

 causing

    painful, debilitating, disfiguring, and life-threatening angioedema
    SYMPTOMS

.

    Prodromes
    SYMPTOMS

 occurring hours to days before attacks have been described in the literature; however, their significance as predictive signals of impending attacks is uncertain. Given the morbidity and mortality associated with

    HAE attacks
    DIAGNOSIS

 and the increasing availability of therapeutic products for their treatment, identifying prodromes that accurately predict the onset of attacks could provide the basis for the development of a validated instrument to identify the onset of such attacks requiring

    abortive therapeutic intervention
    MEDICATION

 before the development of

    clinically significant angioedema
    SYMPTOMS

. The aim of this study was to review the literature to identify the

    prodromes
    SYMPTOMS

 reported to occur with

    HAE attacks
    SYMPTOMS

. A literature review of English language journal articles was performed using search terms

    hereditary angioedema
    DIAGNOSIS

,

    HAE
    DIAGNOSIS

,

    angioneurotic edema
    SYMPTOMS

,

    prodrome
    SYMPTOMS

, signs, and symptoms. Nineteen original English language articles that included both case reports and studies describing

    prodromes associated with HAE attacks
    SYMPTOMS

 were obtained. Our review indicates that there is significant variability in the expression, manifestation, prevalence, timing, and predictive reliability of the prodromes that have been described. There is considerable variability of the prodromal manifestations that may occur before or during

    HAE attacks
    SYMPTOMS

. We have not found any evidence that their sensitivity and specificity for accurately predicting such attacks has been studied.

Hereditary angioedema (HAE)
HAE attacks
hereditary angioedema
HAE


Successful treatment of hereditary angioedema with bradykinin B2-receptor antagonist icatibant.

The bradykinin B2 receptor antagonist icatibant has recently become available for treating hereditary angioedema. Our observations demonstrate icatibant to be effective and safe for the treatment of both, abdominal and cutaneous attacks in a practice setting beyond clinical studies.

The

    bradykinin B2 receptor antagonist icatibant
    MEDICATION

 has recently become available for treating

    hereditary angioedema
    DIAGNOSIS

. Our observations demonstrate

    icatibant
    MEDICATION

 to be effective and safe for the treatment of

    both, abdominal and cutaneous attacks
    SYMPTOMS

 in a practice setting beyond clinical studies.


Hereditary angioedema and pregnancy: successful management of recurrent and frequent attacks of angioedema with C1-inhibitor concentrate, danazol and tranexamic acid - a case report.

Hereditary angioedema (HAE) is a rare but potentially life-threatening condition caused by deficiency of C1 esterase inhibitor. It is characterized by subcutaneous swelling in any part of the skin, gastrointestinal and respiratory tracts. We present the case of a pregnant woman with known HAE that deteriorated during pregnancy with frequent attacks that were managed successfully with danazol, tranexamic acid and regular intravenous administration of C1 esterase inhibitor.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a rare but potentially life-threatening condition caused by

    deficiency of C1 esterase inhibitor
    BIOCHEMICAL

. It is characterized by

    subcutaneous swelling in any part of the skin, gastrointestinal and respiratory tracts
    SYMPTOMS

. We present the case of a

    pregnant
    AGE

    woman
    GENDER

 with known

    HAE
    DIAGNOSIS

 that deteriorated during

    pregnancy
    SYMPTOMS

 with

    frequent attacks
    SYMPTOMS

 that were managed successfully with

    danazol, tranexamic acid
    MEDICATION

 and

    regular intravenous administration of C1 esterase inhibitor
    MEDICATION

.


Severe migratory Angioedema due to ACE inhibitors use.

Angioedema due to use of angiotensin-converting enzyme inhibitors (ACEIs) is a rare side-effect but is seen more often because of the increase in the use of these drugs due to their effectiveness and good tolerance in the treatment of hypertension and congestive heart failure. Other types of angioedema, which should be included in the differential diagnosis, are the hereditary type, which results from deficiency of C1 esterase inhibitor and the allergic angioedema. Angioedema is a potentially life-threatening condition when it is located to the mucosal and submucosal layers of the upper airway. Some times an angioedema case can be very severe, resistant to the usual treatment and even rarely fatal. The last eight months, six patients with angioedema due to ACEIs (5 cases) or angiotensin II receptor blockers (1 case), were examined and hospitalized at our department. We describe the case of a 65 year old woman with severe migratory angioedema of the tongue, the floor of the mouth and the oropharynx, which was rather resistant to the usual treatment.

    Angioedema
    DIAGNOSIS

 due to use of

    angiotensin-converting enzyme inhibitors (ACEIs)
    MEDICATION

 is a rare side-effect but is seen more often because of the increase in the use of these drugs due to their effectiveness and good tolerance in the treatment of

    hypertension
    DIAGNOSIS

 and

    congestive heart failure
    SYMPTOMS

. Other types of

    angioedema
    DIAGNOSIS

, which should be included in the

    differential diagnosis
    PARACLINICAL

, are the

    hereditary
    DIAGNOSIS

 type, which results from

    deficiency of C1 esterase inhibitor
    BIOCHEMICAL

 and the

    allergic angioedema
    DIAGNOSIS

.

    Angioedema
    DIAGNOSIS

 is a

    potentially life-threatening
    SYMPTOMS

 condition when it is

    located to the mucosal and submucosal layers of the upper airway
    SYMPTOMS

. Some times an

    angioedema
    DIAGNOSIS

 case can be very severe,

    resistant to the usual treatment
    NEG_FINDINGS

 and even rarely

    fatal
    SYMPTOMS

. The last eight months, six patients with

    angioedema
    DIAGNOSIS

 due to

    ACEIs
    MEDICATION

 (5 cases) or

    angiotensin II receptor blockers
    MEDICATION

 (1 case), were examined and hospitalized at our department. We describe the case of a

    65 year old
    AGE

    woman
    GENDER

 with

    severe migratory angioedema of the tongue, the floor of the mouth and the oropharynx
    SYMPTOMS

, which was

    rather resistant to the usual treatment
    NEG_FINDINGS

.

Angioedema
hypertension
angioedema
hereditary
allergic angioedema
Angioedema
angioedema
angioedema

resistant to the usual treatment
rather resistant to the usual treatment


Derm diagnoses you can't afford to miss.

Management of hereditary angioedema should include fresh frozen plasma containing C1 inhibitor (C1-INH), whenever possible; if C1-INH-containing plasma is unavailable, fresh frozen plasma can be used instead. Do not give neomycin to patients with suspected cellulitis; the drug may promote antibiotic resistance in Staphylococcus aureus, a pathogen often associated with this condition. Whenever a patient presents with erythematous skin lesions and a recent history of receiving penicillin or a cephalosporin antibiotic, a sulfa derivative, or an anticonvulsant, the suspected medication should be stopped until Stevens-Johnson syndrome is ruled out.

Management of

    hereditary angioedema
    DIAGNOSIS

 should include

    fresh frozen plasma containing C1 inhibitor (C1-INH)
    MEDICATION

, whenever possible; if

    C1-INH-containing plasma is unavailable
    NEG_FINDINGS

,

    fresh frozen plasma
    MEDICATION

 can be used instead.

    Do not give neomycin
    NEG_FINDINGS

 to patients with suspected

    cellulitis
    DIAGNOSIS

; the drug may promote

    antibiotic resistance in Staphylococcus aureus
    GENETICS

, a pathogen often associated with this condition. Whenever a patient presents with

    erythematous skin lesions
    SYMPTOMS

 and a

    recent history of receiving penicillin or a cephalosporin antibiotic, a sulfa derivative, or an anticonvulsant
    MEDICATION

, the suspected medication should be stopped until

    Stevens-Johnson syndrome is ruled out
    NEG_FINDINGS

.

C1-INH-containing plasma is unavailable
Do not give neomycin
Stevens-Johnson syndrome is ruled out


[Anaesthesic management of vaginal delivery in a parturient with C1 esterase deficiency].

Hereditary and acquired angioedema (HAE/AAE) are the clinical translation of a qualitative or a quantitative deficit of C1 esterase inhibitor (C1 INH). The frequency and severity of clinical manifestations vary greatly, ranging from a moderate swelling of the extremities to obstruction of upper airway. Anaesthesiologists and intensivists must be prepared to manage acute manifestations of this disease in case of life-threatening laryngeal edema. Surgery, physical trauma and labour are classical triggers of the disease. The anaesthesiologists should be aware of the drugs used as prophylaxis and treatment of acute attacks when considering labour and caesarean section. Androgens are contraindicated during pregnancy. If prophylaxis is required, tranexamic acid may be used with caution. The safest obstetric approach appears to be to administer a predelivery infusion of C1 INH concentrate. It is important to avoid manipulation of the airway as much as possible by relying on regional techniques. We report the case of a patient suffering from an HAE discovered during pregnancy. The management included administration of C1 INH during labor and early epidural analgesia for pain relief. A short review of the pathophysiology and therapeutic options follows.

    Hereditary and acquired angioedema (HAE/AAE)
    DIAGNOSIS

 are the clinical translation of a

    qualitative or a quantitative deficit of C1 esterase inhibitor (C1 INH)
    BIOCHEMICAL

. The frequency and severity of clinical manifestations vary greatly, ranging from a

    moderate swelling of the extremities
    SYMPTOMS

 to

    obstruction of upper airway
    SYMPTOMS

.

    Anaesthesiologists
    PARACLINICAL

 and

    intensivists
    PARACLINICAL

 must be prepared to manage acute manifestations of this disease in case of

    life-threatening laryngeal edema
    SYMPTOMS

.

    Surgery
    MEDICATION

,

    physical trauma
    MEDICATION

 and

    labour
    MEDICATION

 are classical triggers of the disease. The

    anaesthesiologists
    PARACLINICAL

 should be aware of the drugs used as prophylaxis and treatment of

    acute attacks
    SYMPTOMS

 when considering

    labour
    MEDICATION

 and

    caesarean section
    MEDICATION

.

    Androgens are contraindicated
    NEG_FINDINGS

 during

    pregnancy
    DIAGNOSIS

. If

    prophylaxis
    MEDICATION

 is required,

    tranexamic acid
    MEDICATION

 may be used with caution. The safest obstetric approach appears to be to

    administer a predelivery infusion of C1 INH concentrate
    MEDICATION

. It is important to avoid

    manipulation of the airway
    MEDICATION

 as much as possible by relying on

    regional techniques
    MEDICATION

. We report the case of a patient suffering from an

    HAE
    DIAGNOSIS

 discovered during

    pregnancy
    DIAGNOSIS

. The management included

    administration of C1 INH during labor and early epidural analgesia for pain relief
    MEDICATION

. A short review of the pathophysiology and therapeutic options follows.

moderate swelling of the extremities
obstruction of upper airway
life-threatening laryngeal edema
acute attacks


Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III.

A new type of hereditary angioedema (type III) affecting mainly women with normal C1-inhibitor level and function has been described. Exposition to estrogens is an important precipitating factor. Recently, a missense mutation in the gene of the blood coagulation factor XII (Hageman factor) has been reported in a few families with this type of hereditary angioedema.

To study a patient and her family with recurrent swelling attacks during pregnancy.

Complement factors C3 and C4 as well as C1-inhibitor level and function were determined. Genomic DNA was isolated from venous blood samples and screened for mutations in the coagulation factor XII gene.

C3 and C4 levels as well as C1-inhibitor level and function were normal. A missense mutation Thr309Lys was identified in factor XII gene with a heterozygotic pattern. This mutation was also identified in the mother of the patient, her daughter and her son.

These results support that the mentioned mutation in factor XII gene causes hereditary angioedema type III.

A new type of

    hereditary angioedema (type III)
    DIAGNOSIS

 affecting mainly

    women
    GENDER

 with

    normal C1-inhibitor level and function
    NEG_FINDINGS

 has been described.

    Exposition to estrogens
    SYMPTOMS

 is an important precipitating factor. Recently, a

    missense mutation in the gene of the blood coagulation factor XII (Hageman factor)
    GENETICS

 has been reported in a few families with this type of

    hereditary angioedema
    DIAGNOSIS

.

To study a patient and her family with

    recurrent swelling attacks
    SYMPTOMS

 during

    pregnancy
    DIAGNOSIS

.

    Complement factors C3 and C4 as well as C1-inhibitor level and function
    BIOCHEMICAL

 were determined.

    Genomic DNA was isolated from venous blood samples
    PARACLINICAL

 and screened for

    mutations in the coagulation factor XII gene
    GENETICS

.

    C3 and C4 levels as well as C1-inhibitor level and function were normal
    NEG_FINDINGS

. A

    missense mutation Thr309Lys was identified in factor XII gene with a heterozygotic pattern
    GENETICS

.

    This mutation was also identified in the mother of the patient, her daughter and her son
    FAMILY

.

These results support that the

    mentioned mutation in factor XII gene
    GENETICS

 causes

    hereditary angioedema type III
    DIAGNOSIS

.

hereditary angioedema (type III)
hereditary angioedema
pregnancy
hereditary angioedema type III

Exposition to estrogens
recurrent swelling attacks


[Hereditary angioedema--diagnostic problems].

Hereditary angioedema (HAE) is a rare, but potentially life-threatening condition, clinically characterized by recurrent and self-limiting episodes of swelling which affect the skin, gastrointestinal tract and upper airways, and are caused by a lack of complement-C1-inhibitor (C1-INH). Within the past ten years, two Danish HAE patients have died from laryngeal oedema. We report two cases that illustrate symptoms and differential diagnostic problems posed by this disease, and the importance of an effective treatment strategy.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a rare, but potentially life-threatening condition, clinically characterized by

    recurrent and self-limiting episodes of swelling which affect the skin, gastrointestinal tract and upper airways
    SYMPTOMS

, and are caused by a

    lack of complement-C1-inhibitor (C1-INH)
    BIOCHEMICAL

. Within the past ten years, two

    Danish
    ETHNICITY

    HAE
    DIAGNOSIS

 patients have

    died
    SYMPTOMS

 from

    laryngeal oedema
    SYMPTOMS

. We report two cases that illustrate symptoms and differential diagnostic problems posed by this disease, and the importance of an effective treatment strategy.


Computed tomography of the gastrointestinal manifestation of hereditary angioedema.

We report a case of gastrointestinal manifestation of hereditary angioedema. Computed tomography (CT) revealed wall thickening of the gastric antrum, duodenum, and jejunum. Dilatation of the third part of the duodenum, thickening of the small bowel mesentery and omentum, and retroperitoneal edema were present. The importance of considering this condition in patients presenting such CT findings correlated with the appropriate history is discussed.

We report a case of

    gastrointestinal manifestation
    SYMPTOMS

 of

    hereditary angioedema
    DIAGNOSIS

.

    Computed tomography (CT)
    PARACLINICAL

 revealed

    wall thickening of the gastric antrum, duodenum, and jejunum
    SYMPTOMS

.

    Dilatation of the third part of the duodenum
    SYMPTOMS

,

    thickening of the small bowel mesentery and omentum
    SYMPTOMS

, and

    retroperitoneal edema
    SYMPTOMS

 were present. The importance of considering this condition in patients presenting such CT findings correlated with the appropriate history is discussed.


[67-year-old patient with speech disorder and dysphagia].

A 67-year-old man who had been heart transplanted ten years before was admitted to our hospital because of diarrhea. During his stay he developed a severe lingual and facial angioedema. After excluding hereditary angioedema caused by a deficiency in functional C1 esterase inhibitor we focused on adverse effects of his drugs. The medication was composed of Aspirin, Enalapril, Diltiazem, Everolimus, Mycophenolate Mofetil, Bisoprolol, Pravastatin, Esomeprazol and Allopurinol. The angioedema disappeared with anti-allergic treatment. The administration of the suspected trigger enalapril was stopped. However weeks later the patient was admitted again with angioedema. Due to missing urticaria Aspirin was unlikely the causer. The only new drug the patient had been medicated with was Everolimus for 30 days. We assumed a link between the angioedema and Everolimus. Consequently we changed the immunosuppressive regime. After stopping Everolimus no angioedema occurred.

Everolimus is a potential trigger of angioedema.

A

    67-year-old
    AGE

    man
    GENDER

 who had been

    heart transplanted
    MEDICATION

 ten years before was admitted to our hospital because of

    diarrhea
    DIAGNOSIS

. During his stay

    he
    GENDER

 developed a

    severe lingual and facial angioedema
    SYMPTOMS

. After

    excluding hereditary angioedema
    NEG_FINDINGS

 caused by a

    deficiency in functional C1 esterase inhibitor
    BIOCHEMICAL

 we focused on

    adverse effects of his drugs
    SYMPTOMS

. The

    medication was composed of Aspirin, Enalapril, Diltiazem, Everolimus, Mycophenolate Mofetil, Bisoprolol, Pravastatin, Esomeprazol
    MEDICATION

 and

    Allopurinol
    MEDICATION

. The

    angioedema disappeared
    SYMPTOMS

 with

    anti-allergic treatment
    MEDICATION

. The

    administration of the suspected trigger enalapril was stopped
    MEDICATION

. However weeks later the patient was admitted again with

    angioedema
    SYMPTOMS

. Due to

    missing urticaria
    NEG_FINDINGS

    Aspirin was unlikely the causer
    NEG_FINDINGS

. The only new drug the patient had been

    medicated with was Everolimus for 30 days
    MEDICATION

. We assumed a link between the

    angioedema
    DIAGNOSIS

 and

    Everolimus
    MEDICATION

. Consequently we

    changed the immunosuppressive regime
    MEDICATION

. After

    stopping Everolimus
    MEDICATION

    no angioedema occurred
    NEG_FINDINGS

.

    Everolimus
    MEDICATION

 is a potential trigger of

    angioedema
    DIAGNOSIS

.

severe lingual and facial angioedema
adverse effects of his drugs
angioedema disappeared
angioedema

excluding hereditary angioedema
missing urticaria
Aspirin was unlikely the causer
no angioedema occurred


Membranous nephropathy in a patient with hereditary angioedema: a case report.

Hereditary angioedema is the commonest inherited disorder of the complement system and has been associated with several immune glomerular diseases. A case of nephrotic syndrome and renal impairment due to idiopathic membranous glomerulonephritis in a patient with hereditary angioedema has not been described before.

We present the first reported case of the association of membranous nephropathy and hereditary angioedema in a 43-year-old male Caucasian patient who presented with acute intestinal angioedema, hypertension, acute pancreatitis, renal impairment and generalised body swelling due to severe nephrotic syndrome. We present the challenges involved in the clinical management of the patient.

This patient's presentation with severe nephrotic syndrome, renal impairment and hypertension required aggressive treatment of the membranous nephropathy given the high risk for progression to end stage renal failure. The contraindication to angiotensin converting enzyme inhibitors and angiotensin II receptor blockers in this patient, the lack of published evidence on the use of alkylating agents and other immunosuppressive agents in patients with hereditary angioedema and the lack of published data on the management of similar cases presented a clinical challenge in this patient's management.

    Hereditary angioedema
    DIAGNOSIS

 is the commonest

    inherited disorder of the complement system
    GENETICS

 and has been associated with several

    immune glomerular diseases
    DIAGNOSIS

. A case of

    nephrotic syndrome
    DIAGNOSIS

 and

    renal impairment
    SYMPTOMS

 due to

    idiopathic membranous glomerulonephritis
    DIAGNOSIS

 in a patient with

    hereditary angioedema
    DIAGNOSIS

 has not been described before.

We present the first reported case of the

    association of membranous nephropathy and hereditary angioedema
    DIAGNOSIS

 in a

    43-year-old
    AGE

    male
    GENDER

    Caucasian
    ETHNICITY

 patient who presented with

    acute intestinal angioedema
    SYMPTOMS

,

    hypertension
    SYMPTOMS

,

    acute pancreatitis
    SYMPTOMS

,

    renal impairment
    SYMPTOMS

 and

    generalised body swelling
    SYMPTOMS

 due to

    severe nephrotic syndrome
    DIAGNOSIS

. We present the challenges involved in the clinical management of the patient.

This patient's presentation with

    severe nephrotic syndrome
    DIAGNOSIS

,

    renal impairment
    SYMPTOMS

 and

    hypertension
    SYMPTOMS

 required

    aggressive treatment
    MEDICATION

 of the

    membranous nephropathy
    DIAGNOSIS

 given the high risk for progression to

    end stage renal failure
    SYMPTOMS

. The

    contraindication to angiotensin converting enzyme inhibitors and angiotensin II receptor blockers
    NEG_FINDINGS

 in this patient, the lack of published evidence on the use of

    alkylating agents and other immunosuppressive agents
    MEDICATION

 in patients with

    hereditary angioedema
    DIAGNOSIS

 and the lack of published data on the management of similar cases presented a clinical challenge in this patient's management.

renal impairment
acute intestinal angioedema
hypertension
acute pancreatitis
renal impairment
generalised body swelling
renal impairment
hypertension
end stage renal failure


Hereditary angioedema in a family presenting as transient periarthritis.

Hereditary angioedema (HAE) is a rare condition known to cause episodic, self-limiting, nonpruritic, nonpitting edema that involves skin and visceral organs. It may affect any external body surface including face, extremities, and genitalia. Most commonly involved viscera are gastrointestinal and respiratory systems. Patients may have severe abdominal pain because of edema of the bowel wall. This disease can cause life threatening laryngeal edema if it involves the airway.We describe a patient with HAE who was initially diagnosed with arthritis after she had recurrent edema around her peripheral joints. Diagnosis of HAE in her led to the same diagnosis in her sister and her father. HAE should be considered in the differential diagnosis of recurrent attacks of periarticular swelling.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a rare condition known to cause

    episodic, self-limiting, nonpruritic, nonpitting edema that involves skin and visceral organs
    SYMPTOMS

. It may affect

    any external body surface including face, extremities, and genitalia
    SYMPTOMS

. Most commonly involved

    viscera are gastrointestinal and respiratory systems
    SYMPTOMS

. Patients may have

    severe abdominal pain
    SYMPTOMS

 because of

    edema of the bowel wall
    SYMPTOMS

. This disease can cause

    life threatening laryngeal edema
    SYMPTOMS

 if it

    involves the airway
    SYMPTOMS

.We describe a patient with

    HAE
    DIAGNOSIS

 who was

    initially diagnosed with arthritis
    NEG_FINDINGS

 after

    she
    GENDER

 had

    recurrent edema around her peripheral joints
    SYMPTOMS

. Diagnosis of

    HAE
    DIAGNOSIS

 in

    her
    GENDER

    led to the same diagnosis in her sister and her father
    FAMILY

.

    HAE
    DIAGNOSIS

 should be considered in the

    differential diagnosis
    PARACLINICAL

 of

    recurrent attacks of periarticular swelling
    SYMPTOMS

.


Rhabdomyolysis and pancreatitis associated with coadministration of danazol 600 mg/d and lovastatin 40 mg/d.

Danazol is a steroid analogue with anabolic and androgenic effects and is indicated for the treatment of endometriosis, fibrocystic diseases of the breast, and hereditary angioedema. Lovastatin has been prescribed to lower total cholesterol and low-density lipoprotein cholesterol, reducing cardiovascular-related morbidity and mortality in patients with hypercholesterolemia. As monotherapies, both danazol and lovastatin have been reported to induce myopathy and pancreatitis.

A 59-year-old Asian woman (height, 155 cm; weight, 54 kg; and body mass index, 22.5 kg/m2) presented to the outpatient neurology clinic with acute progressive quadriparesis and generalized myalgia (without focal sensory loss, numbness, dizziness, diplopia, dysarthria, dysphagia, or sphincter incontinence), lasting for 5 days. She was admitted to the National Cheng Kung University Hospital, Tainan, Taiwan. The patient's medical history revealed multiple comorbidities (eg, end-stage renal disease, hypertension, diabetes mellitus) for which she was receiving concomitant medication. Her medication history revealed that at the time the patient presented, she was also receiving calcium bicarbonate 1500 mg/d, labetalol 100 mg/d, and glipizide 10 mg/d in the treatment of her other comorbid illnesses. The patient was also receiving alprazolam 0.5 mg/d for insomnia. Her medical records also revealed that lovastatin 40 mg/d (a particularly high dose and not recommended) had been administered for 7 weeks, and danazol 600 mg/d was added (approximately 15 days later) to treat thrombocytopenia due to hypoplastic bone marrow. Laboratory findings revealed elevated creatine kinase (68,193 U/L), elevated pancreatic enzymes (amylase/lipase, 361/2788 U/L), and elevated liver enzymes (aspartate/alanine aminotransferase, 1496/1493 U/L), consistent with rhabdomyolysis and pancreatitis. After discontinuation of both drugs, the symptoms improved 5 days after admission and completely disappeared 1 month after admission. In addition, laboratory abnormalities completely normalized approximately 2 months after admission. Danazol was resumed to treat persistent thrombocytopenia, while lovastatin was replaced with ezetimibe 10 mg QD to treat high cholesterol (dyslipidemia).

The coadministration of high-dose lovastatin and danazol was probably associated with rhabdomyolysis and pancreatitis in this patient with multiple underlying comorbidities for which concomitant medications were being administered.

    Danazol is a steroid analogue with anabolic and androgenic effects
    MEDICATION

 and is indicated for the treatment of

    endometriosis
    DIAGNOSIS

,

    fibrocystic diseases of the breast
    DIAGNOSIS

, and

    hereditary angioedema
    DIAGNOSIS

.

    Lovastatin
    MEDICATION

 has been prescribed to

    lower total cholesterol and low-density lipoprotein cholesterol
    BIOCHEMICAL

, reducing

    cardiovascular-related morbidity
    SYMPTOMS

 and mortality in patients with

    hypercholesterolemia
    BIOCHEMICAL

. As

    monotherapies
    MEDICATION

, both

    danazol and lovastatin
    MEDICATION

 have been reported to induce

    myopathy
    SYMPTOMS

 and

    pancreatitis
    SYMPTOMS

.

A

    59-year-old
    AGE

    Asian
    ETHNICITY

    woman
    GENDER

 (height, 155 cm; weight, 54 kg; and

    body mass index, 22.5 kg/m2
    SYMPTOMS

) presented to the outpatient neurology clinic with

    acute progressive quadriparesis
    SYMPTOMS

 and

    generalized myalgia
    SYMPTOMS

 (

    without focal sensory loss, numbness, dizziness, diplopia, dysarthria, dysphagia, or sphincter incontinence)
    NEG_FINDINGS

,

    lasting for 5 days
    SYMPTOMS

.

    She
    GENDER

 was admitted to the National Cheng Kung University Hospital, Tainan,

    Taiwan
    ETHNICITY

. The patient's medical history revealed multiple comorbidities (eg,

    end-stage renal disease
    DIAGNOSIS

,

    hypertension
    SYMPTOMS

,

    diabetes mellitus
    DIAGNOSIS

) for which

    she
    GENDER

 was

    receiving concomitant medication
    MEDICATION

.

    Her
    GENDER

 medication history revealed that at the time the patient presented,

    she
    GENDER

 was also

    receiving calcium bicarbonate 1500 mg/d, labetalol 100 mg/d, and glipizide 10 mg/d
    MEDICATION

 in the treatment of her other

    comorbid illnesses
    DIAGNOSIS

. The patient was also

    receiving alprazolam 0.5 mg/d
    MEDICATION

 for

    insomnia
    MEDICATION

.

    Her
    GENDER

 medical records also revealed that

    lovastatin 40 mg/d (a particularly high dose and not recommended) had been administered for 7 weeks
    MEDICATION

, and

    danazol 600 mg/d was added
    MEDICATION

 (approximately 15 days later) to treat

    thrombocytopenia
    BIOCHEMICAL

 due to

    hypoplastic bone marrow
    SYMPTOMS

.

    Laboratory findings
    PARACLINICAL

 revealed

    elevated creatine kinase (68,193 U/L)
    BIOCHEMICAL

,

    elevated pancreatic enzymes (amylase/lipase, 361/2788 U/L)
    BIOCHEMICAL

, and

    elevated liver enzymes (aspartate/alanine aminotransferase, 1496/1493 U/L)
    BIOCHEMICAL

, consistent with

    rhabdomyolysis
    DIAGNOSIS

 and

    pancreatitis
    DIAGNOSIS

. After

    discontinuation of both drugs
    MEDICATION

, the

    symptoms improved
    SYMPTOMS

 5 days after admission and

    completely disappeared
    SYMPTOMS

 1 month after admission. In addition,

    laboratory abnormalities completely normalized
    BIOCHEMICAL

 approximately 2 months after admission.

    Danazol
    MEDICATION

 was resumed to treat

    persistent thrombocytopenia
    BIOCHEMICAL

, while

    lovastatin was replaced with ezetimibe 10 mg QD
    MEDICATION

 to treat

    high cholesterol (dyslipidemia)
    DIAGNOSIS

.

The

    coadministration of high-dose lovastatin and danazol
    MEDICATION

 was probably associated with

    rhabdomyolysis
    DIAGNOSIS

 and

    pancreatitis
    DIAGNOSIS

 in this patient with

    multiple underlying comorbidities
    SYMPTOMS

 for which

    concomitant medications were being administered
    MEDICATION

.

endometriosis
fibrocystic diseases of the breast
hereditary angioedema
end-stage renal disease
diabetes mellitus
comorbid illnesses
rhabdomyolysis
pancreatitis
high cholesterol (dyslipidemia)
rhabdomyolysis
pancreatitis

cardiovascular-related morbidity
myopathy
pancreatitis
body mass index, 22.5 kg/m2
acute progressive quadriparesis
generalized myalgia
lasting for 5 days
hypertension
hypoplastic bone marrow
symptoms improved
completely disappeared
multiple underlying comorbidities


Acute edema blisters in a hereditary angioedema cutaneous attack.

Hereditary angioedema is a rare autosomal dominant disease characterized by recurrent episodes of acute edema affecting the skin and the respiratory and digestive tracts. Acute edema blisters or hydro-static bullae develop after rapid accumulation of interstitial fluid usually associated to cardiac insufficiency. Lesions contain sterile fluid and break up easily resolving without scars. Blisters disappear when fluid accumulation resolves. We describe a patient developing recurrent acute edema blisters as a consequence of cutaneous hereditary angioedema attacks.

    Hereditary angioedema
    DIAGNOSIS

 is a

    rare autosomal dominant disease
    GENETICS

 characterized by

    recurrent episodes of acute edema affecting the skin and the respiratory and digestive tracts
    SYMPTOMS

.

    Acute edema blisters or hydro-static bullae
    SYMPTOMS

 develop after

    rapid accumulation of interstitial fluid
    MICROSCOPIC

 usually associated to

    cardiac insufficiency
    SYMPTOMS

.

    Lesions contain sterile fluid
    MICROSCOPIC

 and

    break up easily resolving without scars
    SYMPTOMS

.

    Blisters disappear
    SYMPTOMS

 when

    fluid accumulation resolves
    BIOCHEMICAL

. We describe a patient developing

    recurrent acute edema blisters
    SYMPTOMS

 as a consequence of

    cutaneous hereditary angioedema attacks
    SYMPTOMS

.


Successful resolution of bowel obstruction in a patient with hereditary angioedema.

Hereditary angioedema (HAE), a rare genetic disorder caused by a deficiency of the C1 esterase inhibitor, leads to an episodic, self-limiting increase in vascular permeability. Related symptoms commonly include recurrent, intractable abdominal pain, vomiting, and/or diarrhea. DX-88 (ecallantide), a 60-amino acid recombinant protein discovered through phage display technology, is a highly specific, potent inhibitor of human plasma kallikrein that has been used successfully in the treatment of patients experiencing acute HAE attacks. This case study involves a 65-year-old woman who presented with severe abdominal pain, cramping, and nausea. The study describes the use of a video obtained by capsule endoscopy for the direct imaging of bowel occlusion in a patient with HAE that resolved upon treatment with DX-88. After administration of DX-88, 80 mg intravenously, abdominal pain and nausea resolved within 30 min. Capsule endoscopy demonstrated a coincident resolution of the bowel wall edema, with a return to normal within approximately 1.5 h of DX-88 administration. This case study demonstrates that DX-88 can produce dramatic clinical benefits in a patient with an acute abdominal HAE attack, resolving both symptoms and pathologic signs. Furthermore, it illustrates the usefulness of videos obtained from capsule endoscopy in identifying the presence of bowel occlusion and demonstrating its subsequent rapid resolution upon administration of DX-88.

    Hereditary angioedema (HAE)
    DIAGNOSIS

, a

    rare genetic disorder
    GENETICS

 caused by a

    deficiency of the C1 esterase inhibitor
    BIOCHEMICAL

, leads to an

    episodic, self-limiting increase in vascular permeability
    SYMPTOMS

. Related symptoms commonly include

    recurrent, intractable abdominal pain
    SYMPTOMS

,

    vomiting
    SYMPTOMS

, and/or

    diarrhea
    SYMPTOMS

.

    DX-88 (ecallantide), a 60-amino acid recombinant protein
    MEDICATION

 discovered through phage display technology, is a highly specific, potent

    inhibitor of human plasma kallikrein
    BIOCHEMICAL

 that has been used successfully in the treatment of patients experiencing

    acute HAE attacks
    SYMPTOMS

. This case study involves a

    65-year-old
    AGE

    woman
    GENDER

 who presented with

    severe abdominal pain
    SYMPTOMS

,

    cramping
    SYMPTOMS

, and

    nausea
    SYMPTOMS

. The study describes the use of a

    video obtained by capsule endoscopy
    PARACLINICAL

 for the

    direct imaging of bowel occlusion
    PARACLINICAL

 in a patient with

    HAE
    DIAGNOSIS

 that resolved upon treatment with

    DX-88
    MEDICATION

. After

    administration of DX-88, 80 mg intravenously
    MEDICATION

,

    abdominal pain and nausea resolved
    SYMPTOMS

 within 30 min.

    Capsule endoscopy
    PARACLINICAL

 demonstrated a

    coincident resolution of the bowel wall edema, with a return to normal
    SYMPTOMS

 within approximately 1.5 h of DX-88 administration. This case study demonstrates that

    DX-88
    MEDICATION

 can produce dramatic clinical benefits in a patient with an

    acute abdominal HAE attack
    SYMPTOMS

,

    resolving both symptoms and pathologic signs
    SYMPTOMS

. Furthermore, it illustrates the usefulness of

    videos obtained from capsule endoscopy
    PARACLINICAL

 in identifying the

    presence of bowel occlusion
    SYMPTOMS

 and demonstrating its subsequent rapid resolution upon administration of

    DX-88
    MEDICATION

.

deficiency of the C1 esterase inhibitor
inhibitor of human plasma kallikrein


Acquired angioedema associated with hereditary angioedema due to C1 inhibitor deficiency.

Angioedema caused by C1 inhibitor deficiency is a rare disorder that may be either hereditary or acquired, the latter being mainly associated with lymphoproliferative disorders. A 51-year-old woman who had suffered from episodes of acute peripheral edema since she was 12 was diagnosed with hereditary angioedema at the age of 40 and remained stable with stanozolol. Due to a worsening of her symptoms she was reassessed and low levels of C1q and an abnormal lymphocyte count were detected. Immunophenotyping of peripheral blood revealed 9% monoclonal lambda B cells with a follicular center phenotype. The histopathology was consistent with a grade II follicular lymphoma stage IV-A.With chemotherapy, the hematologic disease was controlled and C1q levels returned to normal values. This represents a rare case of a patient with hereditary angioedema who developed acquired angioedema due to a lymphoma that was associated with a reduction in the levels of C1q as her symptoms worsened.

    Angioedema
    DIAGNOSIS

 caused by

    C1 inhibitor deficiency
    BIOCHEMICAL

 is a rare disorder that may be either

    hereditary
    GENETICS

 or acquired, the latter being mainly associated with

    lymphoproliferative disorders
    DIAGNOSIS

. A

    51-year-old
    AGE

    woman
    GENDER

 who had suffered from

    episodes of acute peripheral edema
    SYMPTOMS

 since

    she
    GENDER

    was 12
    AGE

 was diagnosed with

    hereditary angioedema
    DIAGNOSIS

 at the

    age of 40
    AGE

 and

    remained stable
    MEDICATION

 with

    stanozolol
    MEDICATION

. Due to a

    worsening of her symptoms
    SYMPTOMS

    she
    GENDER

 was reassessed and

    low levels of C1q
    BIOCHEMICAL

 and an

    abnormal lymphocyte count
    BIOCHEMICAL

 were detected.

    Immunophenotyping of peripheral blood
    PARACLINICAL

 revealed

    9% monoclonal lambda B cells with a follicular center phenotype
    MICROSCOPIC

. The

    histopathology
    PARACLINICAL

 was consistent with a grade II follicular lymphoma stage IV-A.With

    chemotherapy
    MEDICATION

, the

    hematologic disease
    DIAGNOSIS

 was controlled and

    C1q levels returned to normal values
    BIOCHEMICAL

. This represents a rare case of a patient with

    hereditary angioedema
    DIAGNOSIS

 who developed

    acquired angioedema due to a lymphoma
    DIAGNOSIS

 that was associated with a

    reduction in the levels of C1q
    BIOCHEMICAL

 as

    her
    GENDER

 symptoms worsened.

Angioedema
lymphoproliferative disorders
hereditary angioedema
hematologic disease
hereditary angioedema
acquired angioedema due to a lymphoma

C1 inhibitor deficiency
low levels of C1q
abnormal lymphocyte count
C1q levels returned to normal values
reduction in the levels of C1q

episodes of acute peripheral edema
worsening of her symptoms


[Hereditary angioedema causing colocolic intussusception].

Hereditary angioedema is a rare, autosomal dominant disease inherited. The cause is a quantitative or qualitative congenital deficit in C1 inhibitor. Various clinical symptoms, in particular of sub-cutaneous, upper airways and digestive origin, have been described. Life threatening conditions may be observed. Little information is available on digestive tract localization corresponding to intestinal intussusception associated with hereditary angioedema in children. We report a case of hereditary angioedema observed in a 15-years-old girl who presented such features. We propose a review of the literature and discuss the curative treatment of digestive crisis in children with hereditary angioedema.

    Hereditary angioedema
    DIAGNOSIS

 is a

    rare, autosomal dominant disease inherited
    GENETICS

. The cause is a

    quantitative or qualitative congenital deficit in C1 inhibitor
    BIOCHEMICAL

. Various clinical symptoms, in particular

    of sub-cutaneous, upper airways and digestive origin
    SYMPTOMS

, have been described.

    Life threatening conditions
    SYMPTOMS

 may be observed. Little information is available on

    digestive tract localization corresponding to intestinal intussusception
    SYMPTOMS

 associated with

    hereditary angioedema
    DIAGNOSIS

 in

    children
    AGE

. We report a case of

    hereditary angioedema
    DIAGNOSIS

 observed in a

    15-years-old
    AGE

    girl
    GENDER

 who presented such features. We propose a review of the literature and discuss the

    curative treatment
    MEDICATION

 of

    digestive crisis
    SYMPTOMS

 in

    children
    AGE

 with

    hereditary angioedema
    DIAGNOSIS

.

Hereditary angioedema
hereditary angioedema
hereditary angioedema
hereditary angioedema


Contraception in hereditary angioedema.

To report a case of successful use of a transdermal contraceptive in a patient with hereditary angioedema.

Case report.

University medical center.

A patient who had used oral contraceptives contracted SC and submucosal tumefaction every 1 or 2 months. She was diagnosed with type I hereditary angioedema. It was determined that she was complement C4 deficient and C1-inhibitor quantitative deficient but functional C1-inhibitor normal. After she was diagnosed, the use of oral contraceptives was contraindicated.

Oral contraceptives were suspended, and a hormonal transdermal contraceptive was started.

The absence of symptoms after 26 months using a transdermal contraceptive.

After 26 months of using this treatment, the patient has not experienced any symptoms of the hereditary angioedema.

The use of hormonal contraceptives transdermally can be an alternative in patients with hereditary angioedema.

To report a case of

    successful use of a transdermal contraceptive
    MEDICATION

 in a patient with

    hereditary angioedema
    DIAGNOSIS

.

    University medical center
    MEDICATION

.

A patient who had

    used oral contraceptives
    MEDICATION

 contracted

    SC and submucosal tumefaction every 1 or 2 months
    SYMPTOMS

.

    She
    GENDER

 was diagnosed with

    type I hereditary angioedema
    DIAGNOSIS

. It was determined that

    she
    GENDER

 was

    complement C4 deficient
    BIOCHEMICAL

 and

    C1-inhibitor quantitative deficient
    BIOCHEMICAL

 but

    functional C1-inhibitor normal
    NEG_FINDINGS

. After

    she
    GENDER

 was diagnosed, the

    use of oral contraceptives was contraindicated
    NEG_FINDINGS

.

    Oral contraceptives were suspended
    MEDICATION

, and a

    hormonal transdermal contraceptive was started
    MEDICATION

.

The

    absence of symptoms
    NEG_FINDINGS

 after

    26 months using a transdermal contraceptive
    MEDICATION

.

After

    26 months of using this treatment
    MEDICATION

, the patient has

    not experienced any symptoms of the hereditary angioedema
    NEG_FINDINGS

.

The

    use of hormonal contraceptives transdermally
    MEDICATION

 can be an alternative in patients with

    hereditary angioedema
    DIAGNOSIS

.

hereditary angioedema
type I hereditary angioedema
hereditary angioedema

complement C4 deficient
C1-inhibitor quantitative deficient


Management of hereditary angioedema during off-pump coronary arterial surgery.

A 62-year-old man presented with coronary artery disease complicated by a history of hereditary angioedema. In preparation, extensive consultation and literature review were completed. Close cooperation between immunology, anesthesiology, and cardiac surgery teams, as well as an off-pump technique led to a favorable outcome.

A

    62-year-old
    AGE

    man
    GENDER

 presented with

    coronary artery disease
    DIAGNOSIS

 complicated by a

    history of hereditary angioedema
    FAMILY

. In preparation, extensive consultation and literature review were completed. Close cooperation between

    immunology, anesthesiology, and cardiac surgery teams
    PARACLINICAL

, as well as an

    off-pump technique
    MEDICATION

 led to a favorable outcome.