eISSN: 1644-4124
ISSN: 1426-3912
Central European Journal of Immunology
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1/2015
vol. 40
 
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abstract:

Case report
Coexistence of hereditary angioedema in a case of familial Mediterranean fever with partial response to colchicine

Semiha Erdem Bahceci
,
Ferah Genel
,
Nesrin Gulez
,
Hikmet T. Nacaroglu

(Centr Eur J Immunol 2015; 40 (1):115-116)
Online publish date: 2015/04/22
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Hereditary angioedema (HAE) is a very rare and potentially life-threatening genetic disease characterised by episodes of edema in various parts of the body, including the extremities, face, and airway. The disease is usually associated with attacks of abdominal pain. On the other hand, familial Mediterranean fever (FMF) is an inherited condition characterised by recurrent episodes of painful inflammation in the abdomen, chest, or joints. In this report, we present a child with FMF and undiagnosed HAE, which made him a partial responder to colchicine treatment. Consequently, HAE must be considered in differential diagnosis of cases in which a partial response is obtained from FMF treatment, particularly in countries where FMF is frequently encountered, because early diagnosis of HAE can facilitate prevention of life-threatening complications, such as upper airway obstruction. To our knowledge, our patient is the first patient reported in the literature with the diagnosis of HAE and FMF together.
keywords:

colchicine, familial Mediterranean fever, hereditary angioedema

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