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At a glance

Angioneurotic edema is characterized by profound swelling of the dermis associated with abdominal pain. Edema is usually painless, nonpruritic, nonurticarial, and nonpitting. Edema of the larynx and other portions of the airways is the most fearsome feature of this disorder and can be life-threatening.

Synonyms

Acquired Angioneurotic Edema (AAE); Bannister Disease/Syndrome; Milton Urticaria; Milton-Quincke Syndrome; Quincke Disease/Quincke Syndrome.

History

Named after the German internist Heinrich Irenaeus Quincke (1842-1922) who published a review in 1882. However, first descriptions are from Italian physician Marcello Donati, who described a young count with sensitivity to eggs in 1586.

Classification

There are four types of Hereditary Angioneurotic Edema (HAE) that consist of:

  • HAE Type I: Caused by a deficiency in the C1-esterase inhibitor protein. It accounts for approximately 85% of all patients affected with Quincke Edema.

  • HAE Type II: Result of a dysfunction in the C1-esterase inhibitor protein.

  • HAE Type III: Recognized almost exclusively in women where it is precipitated or worsened by high estrogen levels (pregnancy or contraception. Both, concentration and function of the C1-esterase inhibitor protein are normal in Type III.

  • HAE Type IV: Acquired C1-esterase inhibitor protein deficiency (quantitative or functional) which is associated with autoimmunity and B-cell lymphoproliferative disorders.

Incidence

Varies with etiology. Hereditary angioneurotic edema (HAE) is found in 1:10,000 to 1:150,000 persons. Acquired angioneurotic edema (AEE) has been reported in fewer than 200 cases. Angioedema following use of angiotensin-converting enzyme (ACE) inhibitors is idiopathic and found in one to two cases per 1000 persons. Other forms of angioedema (not secondary to HAE or AAE) will affect 10 to 20% of the population at some time in their lives.

Genetic inheritance

The hereditary form is autosomal dominant transmitted and caused by a mutation in the C1-esterase inhibitor (C1NH) located on chromosome 11p12.1 for Types I and II. HAE Type III is caused by heterozygous mutation in the gene encoding coagulation factor XII on chromosome 5q35. Male:female ratio is 0.85, but 20% are de novo mutations.

The acquired form is often associated with B-cell lymphoproliferative disorders.

Pathophysiology

C1, the first component of the classical pathway of the complement system is a complex macromolecule. Activation leads to cleavage producing the C1 esterase, which may now act on C4 and C2. C1-esterase inhibitor is the control protein that inhibits the spontaneous activation. It is also able to inhibit the Hageman factor (XIIa), plasma thromboplastin (XIa), and kallikrein.

Diagnosis

Clinical (mildly or nonpruritic, relapsing edema that does not respond to antiallergic treatment). Diagnosis of hereditary form is difficult; The World Allergy Organization (WAO) recommends a diagnosis be made in the presence of clinical symptoms as well as positive laboratory ...

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