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

Diagnosi...

...ement Levels in the Diagnosis of HAEHaving...

Figure 1. Recurrent Angioedema – Diagnos...

Prevention

...reventio...

...eatment with replacement plasma-derived C1INH...

...agents for treatment of patients w...

...eatment with low to moderate doses of ana...

...ntifibrinolytic agents provides somewhat eff...

...t-term prophylaxis can be achieved wit...

The need for long-term HAE prophylaxis must...

The dose and effectiveness of long-t...

...strategies such as avoidance of ACE-Is, avo...

...of action of 17α-alkylated androgen...

...cy might be associated with an increase...

Treatment

Treatmen...

...patients with HAE-specific agent. Evidence f...

...AE attacks may involve symptomatic t...

...lasma is often effective in abrogating HAE atta...

...lic androgens nor antifibrinolytic dr...

...corticosteroids and antihistamines are...

...HAE Treatment Algorithm...

...E-Specific AgentsHaving trouble viewin...

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

Special Cases

...cial Cases...

...ith normal C1INH level...

...recurrent angioedema characterized by n...

...s with HAE with normal C1INH levels appear...

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

Drugs developed for patients with H...

...C1INH Deficiency...

...cal characteristics of angioedema episo...

...of acquired C1INH deficiency involves...

...ed C1INH deficiency results from e...

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

...ment of acquired C1INH deficiency is simil...

...Associated Angioedema...

...CE-Is are associated with angioedema in a...

...he management of ACE-I (or ARB)–associa...

The angioedema associated with ACE...

A modest risk of recurrent angioedem...