Hereditary angioedema – neglected diagnosis

Česká verzia

Authors: P. Králíčková ¹; E. Burešová ¹; T. Freiberger ²; I. Tachecí ³
Authors place of work: Ústav klinické imunologie a alergologie Lékařské fakulty UK a FN Hradec Králové, přednosta prof. RNDr. Jan Krejsek, CSc. ¹; Genetická laboratoř Centra kardiovaskulární a transplantační chirurgie Brno, ředitel doc. MU Dr. Petr Němec, CSc., FETCS ²; Oddělení gastroenterologie a hepatologie, vedoucí prof. MU Dr. Jan Bureš, CSc., II. interní kliniky Lékařské fakulty UK a FN Hradec Králové, přednosta prof. MU Dr. Jaroslav Malý, CSc. ³
Published in the journal: Vnitř Lék 2010; 56(9): 927-931
Category: Case Reports

Summary

Hereditary angioedema caused by C1 esterase inhibitor deficiency is a rare autosomal dominant inherited disorder. It is characterized by reccurent episodes of potentially life‑ threatening swellings without itching localized in the dermis and submucosa. We report a case of 41 years old woman with hereditary angioedema manifested as episodes of localized skin swellings and painful gastrointestinal colics. This report underlines the fact that hereditary angioedema is underdiagnosed in differential diagnoses. If hereditary angioedema is correctly diagnosed, effective treatment highly improving patients’ quality of life is available.

Key words:
angioedema – C1 inhibitor – danazol

Zdroje

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