Hereditary Angioedema

Publication Date: June 1, 2013

Key Points

Key Points

Most cases of hereditary angioedema (HAE) result from a deficiency of the serine protease inhibitor, C1 inhibitor (C1INH). (, LB)
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HAE is caused by mutations in the C1INH gene, resulting in a C1INH functional deficiency. (, LB)
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HAE is an autosomal dominant disease. Most patients with HAE have a positive family history of angioedema. (, A)
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Two forms of HAE, which are indistinguishable clinically, can be diagnosed by laboratory findings: type I HAE presents with low C1INH antigenic and functional levels, whereas type II HAE presents with normal C1INH antigenic levels but decreased C1INH functional levels. (, A )
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Diagnosis of type I or type II HAE requires evidence of low C1INH antigenic or functional levels, as well as decreased C4 levels and generally normal C1q levels. (, A)
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Onset of swelling in HAE most often begins during childhood and frequently worsens around puberty. (, C )
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HAE is characterized by relatively prolonged attacks of angioedema involving the extremities, genitourinary tract, abdomen, face, oropharynx or larynx. (, C )
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The primary mediator of swelling in HAE is bradykinin. (, A)
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Disease severity in HAE is highly variable, characterized by episodic rather than continuous swelling. (, D )
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A precipitating cause for most episodes of HAE attacks is unknown, but stress and trauma have been clearly recognized as precipitants. (, D)
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Attacks of swelling in HAE generally involve the extremities, abdomen, genitourinary tract, face, oropharynx, or larynx and follow a stereotypical pattern in which the swelling worsens over 24 hours, peaks, then slowly resolves over the following 48-72 hours. (, A )
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Attacks of HAE may be preceded by a prodrome. (, C )
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HAE attacks are associated with significant potential morbidity and potential mortality. (, A)
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Optimal management of HAE depends on early identification of patients. (, )
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Diagnosis

Diagnosis

...ent Levels in the Diagnosis of HAEHaving trouble...


...igure 1. Recurrent Angioedema –...


Prevention

...reventio...

...th replacement plasma-derived C1INH provides e...


...vel agents for treatment of patients with C1INH...


...atment with low to moderate doses of anabolic...


...reatment with antifibrinolytic agents provides so...


...ophylaxis can be achieved with fresh frozen...


...g-term HAE prophylaxis must be individu...


...and effectiveness of long-term prophylaxis sho...


...djunctive strategies such as avoida...


...s of action of 17α-alkylated andro...


...ght be associated with an increase in the f...


Treatment

...atment

...with HAE-specific agent. Evidence from doubl...


...ent of HAE attacks may involve sympt...


...ozen plasma is often effective in abrogating HAE a...


...er anabolic androgens nor antifibr...


...ephrine, corticosteroids and antihistamines are N...


...2. HAE Treatment Algori...


...2. HAE-Specific AgentsHaving trouble viewing...


...rugs Commonly Used for Long-term HAE Prophylaxi...


Special Cases

...ial Cases...

...AE with normal C1INH...

...milial recurrent angioedema characterized by...

...reds with HAE with normal C1INH levels appear to...

...l C1INH levels may be caused by increased br...

...gs developed for patients with HAE with...


...ed C1INH Deficiency...

...characteristics of angioedema episodes in pati...

...s of acquired C1INH deficiency involves...

...deficiency results from enhanced catabo...

...C1INH deficiency might be associated with C1INH a...

...of acquired C1INH deficiency is similar to tha...


ACE-I–Associated Angioed...

...re associated with angioedema in a...

...management of ACE-I (or ARB)–associated angioe...

...ngioedema associated with ACE-Is is likely due...

...k of recurrent angioedema exists in patie...