Difficulties in diagnosing hereditary angioedema (HAE) with normal c1 inhibitor levels in a patient with a pathogenic mutation in the MEFV gene associated with familial Mediterranean fever

Abstract

Hereditary angioedema (HAE) is an orphan disease that causes potentially life-threatening edema in various locations and remains serious problem in both pediatrics and adult clinical practice often disguised as various diseases. The HAE diagnosis with normal C1 inhibitor activity is particularly difficult. The purpose of this publication is to demonstrate unique clinical case of HAE with normal C1 inhibitor activity in young patient with a pathogenic mutation in the MEFV gene, which is associated with familial Mediterranean fever. Severe abdominal attacks in this patient have been regarded for a long time as a part of therapeutic pathology (gastroenteritis, gastritis, Familial Mediterranean fever), acute surgical and gynecological diseases, which led to late diagnosis verification. The HAE requires timely diagnosis, elimination of factors that provoke exacerbations and an immediate therapy administration, that significantly improves life quality of patients and helps prevent death.