Vnitr Lek 2010, 56(9):927-931

Hereditary angioedema - neglected diagnosis

P. Králíčková1,*, E. Burešová1, T. Freiberger2, I. Tachecí3
1 Ústav klinické imunologie a alergologie Lékařské fakulty UK a FN Hradec Králové, přednosta prof. RNDr. Jan Krejsek, CSc.
2 Genetická laboratoř Centra kardiovaskulární a transplantační chirurgie Brno, ředitel doc. MUDr. Petr Němec, CSc., FETCS
3 Oddělení gastroenterologie a hepatologie, vedoucí prof. MUDr. Jan Bureš, CSc., II. interní kliniky Lékařské fakulty UK a FN Hradec Králové, přednosta prof. MUDr. Jaroslav Malý, CSc.

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.

Keywords: angioedema; C1 inhibitor; danazol

Received: March 19, 2010; Accepted: April 20, 2010; Published: September 1, 2010  Show citation

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Králíčková P, Burešová E, Freiberger T, Tachecí I. Hereditary angioedema - neglected diagnosis. Vnitr Lek. 2010;56(9):927-931.
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