Presentation on theme: "Case Presentation June 25, 2004 H. Henry Li, MD, PhD Institute for Asthma and Allergy."— Presentation transcript:
Case Presentation June 25, 2004 H. Henry Li, MD, PhD Institute for Asthma and Allergy
Patient History 52 Y/O, F Frequent Abdominal pain since early childhood No vomiting, diarrhea, or skin rash Evaluation for food allergies, parasite infections, etc. all negative
Patient History In her 20’s, appendectomy In her 30’s, ectopic pregnancy In her 40’s, cholycystectomy Six exploratory abdominal procedures in 30 year period of time 2 month before the OV, started to have lip and tongue swelling
Major Features of Hereditary Angioedema Onset generally in youth Autosomal dominant inheritance, Incomplete penetrance, de novo mutation Abdominal pain common Laryngeal edema relatively common Urticaria and pruritus absent C1 inhibitor deficiency
Contact activation pathway leading to bradykinin formation.
Inhibits C1r and C1s of the complement system Inhibits activated factor XIIa and kallikrein An inhibitor of factor XIa and plasmin Inhibits activation of C1 C1 Inhibitor Functions
Role of C1 inhibitor Trace Factor XIIa Factor XIIFactor XIIa Prekallikrein Kallikrein HK Bradykinin Factor XIIf C1 C4, C2 digestion Surface Inhibited By C1 INH Plasmin Plasminogen
Further Data Regarding C1 INH Complete acid sequence known; heavily glycosylated Generation of cDNA clones accomplished, localization to chromosome 11 Deficiency heterogeneous by DNA restriction fragment length polymorphisms Deficiency frequently associated with autoimmune phenomena Mechanisms of acquired C1 inhibitor deficiency: Depletion by complement activation Contact system activation Anti-C1 inhibitor antibodies Anti-idiotypic antibodies
Lab Tests for C1 INH Deficiency C4 low; C4d/C4 ratio always elevated C1 inhibitor protein low in about 85% of cases C1 inhibitor only functionally deficient in about 15% C1q antigen low in acquired deficiency Abnormal C1 inhibitor mobility (lower molecular weight) on SDS gel electrophoresis
Treatment of HAE Patient education very important; test family No regular medication needed in many cases Long term prophylactic anabolic androgens and antifibrinolytics Short term prophylaxis Symptomatic treatment during attacks
Long Term Prophylaxis Stanozolol (1-4 mg/day); (more virilizing, less expensive) Danozol (50 mg qod – 200 mg tid) Epsilon aminocaproic acid (EACA, Amicar) an option
Short Term Prophylaxis Fresh frozen plasma, 2 units, 7 hour before procedure High dose of Danazol/Stanozolol, 7 –10 days before procedure
Treatment of Acute Attacks Antihistamine, Epinephrine, corticosteroids, limited value Pain relieve with narcotics C1 INH infusion EACA IV FFP use with care New medications
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