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

...iagnosis...

...omplement Levels in the Diagnosis of...


...e 1. Recurrent Angioedema – Diagnostic Algorit...


Prevention

Prevention

...th replacement plasma-derived C1INH...


...e novel agents for treatment of patients...


...h low to moderate doses of anabolic an...


...ith antifibrinolytic agents provides so...


Short-term prophylaxis can be achieved with fresh...


...for long-term HAE prophylaxis must be individual...


...d effectiveness of long-term prophylaxis shou...


...ctive strategies such as avoidance...


Mechanisms of action of 17α-alkylated androg...


Pregnancy might be associated with an in...


Treatment

Treatm...

...with HAE-specific agent. Evidence...


...of HAE attacks may involve symptomatic treatment...


...n plasma is often effective in abrogating...


...lic androgens nor antifibrinolytic drug...


...orticosteroids and antihistamines are...


...AE Treatment Algorithm...


...HAE-Specific AgentsHaving trouble vi...


...Commonly Used for Long-term HAE Prophyla...


Special Cases

...pecial Case...

...with normal C1INH level...

...lial recurrent angioedema characteri...

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

...AE with normal C1INH levels may be caused by incre...

...loped for patients with HAE with reduced C1INH...


...uired C1INH Deficiency...

...teristics of angioedema episodes in patients...

...acquired C1INH deficiency involves de...

...INH deficiency results from enhanced catabolis...

...ed C1INH deficiency might be associated...

...reatment of acquired C1INH deficiency is...


...ociated Angioedema...

...ociated with angioedema in approximately 0.1% to 0...

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

...angioedema associated with ACE-Is is li...

A modest risk of recurrent angioedem...