Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases. Disease data Classification Disease Synonyms HAE with C1 inhibitor deficiency HAE z niedoborem C1Inh HAE z niedoborem inhibitora C1 Dziedziczny obrzęk angioneurotyczny z niedoborem C1Inh Dziedziczny obrzęk angioneurotyczny z niedoborem inhibitora C1 HAE with C1Inh deficiency Hereditary angioneurotic edema with C1 inhibitor deficiency Hereditary angioneurotic edema with C1Inh deficiency ORPHA code 528623 OMIM code - ICD10 code D84.1 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl