Abdominal pain, arthritis, and nephrotic syndrome in a Syrian patient

Familial Mediterranean fever (FMF) is an autosomal recessive disorder that is characterized by sporadic paroxysmal attacks of fever and serosal inflammation. Although it occurs primarily in ethnic groups originating in the Mediterranean region, FMF is not restricted to these groups and is still underdiagnosed in nephrology settings in nonMediterranean countries (1). The disease morbidity is largely associated with recurrent attacks of pain and fever, and mortality is mainly associated with amyloidosis and kidney disease (1). The discovery of colchicine in 1972 led to an effective treatment for FMF in the prevention of acute attacks and secondary amyloidosis, significantly increasing the importance of an accurate and early diagnosis (2). The clinical criteria proposed by Livneh et al. (3) in 1997 continue to be the gold standard for diagnosis. However, limitations arise in atypical cases and in patients of non-Mediterranean origin. The gene mutated in FMF, MEFV (Mediterranean fever), was cloned in 1997, shedding light on the disease pathogenesis and improving the tools for diagnosis (4). In this scenario, genotype-phenotype correlation studies revealed specific alleles that were associated with amyloidosis and kidney disease, and mutation-based analysis, particularly directed toward hot spots, emerged as an essential approach for diagnosis in atypical cases (5).