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

...Diagno...

...ment Levels in the Diagnosis of HAE...

...ure 1. Recurrent Angioedema – Diagnost...

Prevention

...Preventi...

...eatment with replacement plasma-derived C1I...

The novel agents for treatment of patients with C...

Treatment with low to moderate doses of a...

...antifibrinolytic agents provides somewhat ef...

...term prophylaxis can be achieved with fresh froz...

...ng-term HAE prophylaxis must be individualized b...

The dose and effectiveness of long-...

...ctive strategies such as avoidance of...

...f action of 17α-alkylated androgen and antif...

...be associated with an increase in the frequency...

Treatment

...Treatment...

...ll patients with HAE-specific agent. Evidenc...

...ment of HAE attacks may involve symptom...

...zen plasma is often effective in abroga...

...er anabolic androgens nor antifibrinolytic drugs p...

...inephrine, corticosteroids and anti...

...AE Treatment Algorithm...

...ecific Agents Drug Name (Bra...

...able 3. Drugs Commonly Used for Long-te...

Special Cases

...Special Cases...

...HAE...

...lial recurrent angioedema characterized by nor...

...ome kindreds with HAE with normal C1INH l...

...al C1INH levels may be caused by incre...

...ugs developed for patients with HAE with...

...A...

...cal characteristics of angioedema episodes i...

...agnosis of acquired C1INH deficiency involves d...

...NH deficiency results from enhanced...

Acquired C1INH deficiency might be associate...

...nt of acquired C1INH deficiency is...

...ACE-I–As...

...E-Is are associated with angioedema in approximat...

...of ACE-I (or ARB)–associated angi...

...associated with ACE-Is is likely due to impaired d...

...odest risk of recurrent angioedema exis...