Application of refractory fragment amplification system for detection of Egyptian variant of Familial Mediterranean Fever.

Until recently, the diagnosis of familial Mediterranean fever (FMF) was, based on clinical manifestations, ethnicity, family history and response to colchicines. The aim of this study is to evaluate the use of polymerase chain reaction (PCR) for diagnosis of FMF and to detect the prevalence of the most common MEFV gene (FMF gene) mutations, M694V and V726A in FMF Egyptian patients. From January 2002 to December 2002, twenty patients with FMF as well as 10 healthy subjects with no symptoms suggestive of FMF were enrolled in this study. All patients were subjected to PCR for MEEV gene mutations detection. Fifteen patients (75%) have age of onset of FMF less than 20 years. Five patients (25%) had past history of appendicectomy or laparotomy. The clinical features of patients during attacks were fever (100%), abdominal pain (95%), arthritis (55%), pleurisy (40%) and no skin rash or pericarditis. The M694V mutation was detected in 20 patients (100%) and V726A mutation in 17 patients (85%). No false positive or false negative results were obtained by using the three sets of primers for each sample, indicating a sensitivity and specificity of 100% of this assay.