hereditary angioneurotic edema
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Related to hereditary angioneurotic edema: paroxysmal nocturnal hemoglobinuria
he·red·i·tar·y an·gi·o·neu·rot·ic e·de·ma (HANE),[MIM*106100]
a relatively rare form of edema characterized by onset, usually in childhood, of erythema followed by edema, involving the upper respiratory or gastrointestinal tract, associated with either a deficiency of C1 esterase inhibitor or a functionally inactive form of the inhibitor; may worsen during adolescence. There are two clinically indistinguishable forms: type I, in which the serum level of C1 esterase inhibitor is low (up to 30% of normal), and type II, in which the level is normal or elevated. There is uncontrolled activation of early complement components and production of a kininlike factor that induces the angioedema; death may occur from upper respiratory tract e. and asphyxia. Inheritance is autosomal dominant, caused by mutation in the C1-esterase inhibitor gene (C1NH) on chromosome 11q.
hereditary angioneurotic edemaHANE, 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.