Rishi Desai, MD, MPH

Hereditary angioedema

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Chapter 9 Urticaria & Erythema  HEREDITARY ANGIOEDEMA (HAE) osms.it/hereditary-angioedema PATHOLOGY & CAUSES ▪ Small but important number of all cases of angioedema ▫ Increased vasodilation and vascular permeability → ﬂuid leakage from deep blood vessels → angioedema ▫ Urticaria and pruritus are not present  ▪ Attacks begin during childhood and become increasingly frequent and severe ▪ Frequency of attacks differs greatly, varying from weekly episodes to intervals longer than a year; discrepancies can occur among different individuals and at different times in the same individual  CAUSES  ▪ Inherited in an autosomal dominant manner involving mutation of genes associated with C1-inhibitor (C1INH) that inhibits the complement pathway and is associated with coagulation factor XII ▫ Results in unregulated levels of bradykinin and other vasoactive substances → inﬂammation, vasodilation, and cellular injury ▫ Attack triggers may include minor trauma, mood and temperature changes, but often no obvious inciting event can be established  SIGNS & SYMPTOMS ▪ Recurrent attacks of angioedema ▪ Painless, nonpruritic, nonpitting swelling of extremities, genitalia, buttocks, eyelids, lips, tongue, larynx or gastrointestinal tract ▫ Gastrointestinal tract → nausea, vomiting, intense colicky abdominal pain, diarrhea, dehydration, and intense exhaustion → mimics a surgical emergency and unnecessary surgery could be performed ▫ Larynx → life-threatening airway obstruction → without treatment, death by asphyxia occurs in about 25% ▪ Tightness, tingling, or erythema marginatum corresponding to the affected area may precede the swelling ▪ Each episode usually resolves within 72 hours  Figure 9.3 Angioedema of the lips.  DIAGNOSIS DIAGNOSTIC IMAGING  ▪ Imaging studies may be useful during attacks of gastrointestinal edema  LAB RESULTS  ▪ Complement testing to assess alterations in the system  TREATMENT MEDICATIONS  ▪ Management of attacks ▫ Intravenous C1-inhibitor concentrates, kallikrein inhibitors (ecallantide), bradykinin B2 receptor antagonists (icatibant) or, if those are unavailable, fresh-frozen plasma as an alternative  OSMOSIS.ORG  61   

I have Hereditary Angioedema

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