pediatric hereditary angioedema due to c1-inhibitor deficiency儿童由于缺乏c1-inhibitor遗传性血管性水肿.pdfVIP

Farkas Allergy, Asthma Clinical Immunology 2010, 6:18 /content/6/1/18 ALLERGY, ASTHMA CLINICAL IMMUNOLOGY REVIEW Open Access Pediatric hereditary angioedema due to C1-inhibitor deficiency Henriette Farkas Abstract Hereditary angioedema (HAE) resulting from the deficiency of the C1 inhibitor (C1-INH) is a rare, life-threatening disorder. It is characterized by attacks of angioedema involving the skin and/or the mucosa of the upper airways, as well as the intestinal mucosa. In approximately 50 per cent of cases, clinical manifestations may appear during childhood. The complex management of HAE in pediatric patients is in many respects different from the manage- ment of adults. Establishing the diagnosis early, preferably before the onset of clinical symptoms, is essential in cases with a positive family history. Complement studies usually afford accurate diagnosis, whereas molecular genetics tests may prove helpful in uncertain cases. Appropriate therapy, supported by counselling, suitable modifi- cation of lifestyle, and avoidance of triggering factors (which primarily include mechanical trauma, mental stress and airway infections in children) may spare the patient unnecessary surgery and may prevent mortality. Prompt control of edematous attacks, short-term prophylaxis and intermittent therapy are recommended as the primary means for the management of pediatric cases. Medicinal products currently used for the treatment of children with hereditary angioedema include antifibrinolytics, attenuated androgens, and C1-INH replacement therapy. Cur- rent guidelines favour antifibrinolytics for long-term prophylaxis because of their favorable safety