Characteristics of patients with C1 esterase inhibitor deficiency: a single center study.

Summary Hereditary angioedema (HAE) is a primary complement factor deficiency, characterized by recurrent submucosal/subcutaneous swelling episodes. SERPING1 gene defects encoding C1 esterase inhibitor (C1INH) are responsible from the disease. Fifteen patients with HAE are retrospectively evaluated in this study. All patients (n=15) had HAE type I, 13 were from the same family, other two from two different families. Median age at onset of symptoms was 7 years (2-20); median age on diagnosis, 12 (0,5-41) and median delay in diagnosis, 3 years (0-33). Clinical symptoms were extremity edema(92,3%), facial edema(46%), abdominal pain(46%), genital edema(46%), and laryngeal edema(23%). Some patients suffered from recurrent abdominal pain, had been empirically given colchicine with familial mediterranean fever (FMF) when they admitted. One presented with bullous skin eruption, soon after developed extremity edema. Both resolved spontaneously after C1INH concentrate therapy. Two females suffered from recurrent genital edema after sexual activity. One patient experienced compartment syndrome-like swelling of extremity after playing football. One patient diagnosed with panic attack due to fear of death by asphyxiation, and was diagnosed with HAE disease. A nonsense mutation in exon 8, a missense mutation in exon 2 in SERPING1 gene was present in Family 1 and another patient (P14) from the other family, respectively. Sporadic/autosomal dominant inheritance ratio was 2/3 in the families present in our series. Patients with HAE presents with a large spectrum of symptoms. In mediterranean countries, patients with abdominal attacks may be misdiagnosed with FMF. Thus, health-care professionals should be alert, and put HAE in the first line of differential diagnoses when the disease symptoms are present. Consequently, morbidity/mortality will decrease with effective treatment options.