hereditary angioneurotic edema

hereditary angioneurotic edema

n.

A hereditary condition manifested by recurring episodes of edema of the skin, mucous membranes, or viscera and associated with either a deficiency of an esterase inhibitor of one of the components of complement or a functionally inactive form of the inhibitor.

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hereditary angioneurotic edema

HANE, hereditary angioedema, Quinke's disease Immunology An immune complex-induced condition caused by deficiency of C1q esterase inhibitor–C1q-INH–which normally prevents activation of a cascade of proteins leading to swelling, characterized by episodic consumption of activated C1, C4 and C2, triggered by physical stimuli–trauma, cold, vibration, histamine release, and menstruation; fewer attacks occur in the last 2 trimesters of pregnancy Clinical Recurent attacks of acute swelling–non-pitting, non-pruritic, non-urticarial swelling that peaks at 12-18 hrs, lasts 1-4 days, affects extremities, lips, face, fingers, toes, knees, elbows, buttocks, GI mucosa, oropharynx, causing potentially fatal epiglottic and upper airway edema–33% mortality, often accompanied by abdominal pain with nausea and vomiting; edema also affects abdominal serosa and subserosa; edema of extremities is self-limited and requires no therapy 4 types 2 are congenital; HANE Type I Common–85% with C1q-INH ↓ to 30% of normal levels; HANE Type II Variant form–gene product is present but dysfunctional; type II may be 1. Acquired, associated with lymphoproliferative disorders–eg, IgA myeloma, Waldenström's macroglobulinemia, CLL, and other B-cell proliferations or 2. Autoimmune, associated with IgG1 autoantibodies, due to uncontrolled activation of C1s Diagnosis Hx of recurrent angioedema; very low C1 esterase inhibitor levels Management Prophylactic androgens, antihistamines, antifibrinolytics; vapor-heated–inactivate HBV and HIV C1 inhibitor concentrate may be effective in both acute management and in prophylaxis. See C1-INH.