Phenotype-genotype correlation in children with familial Mediterranean fever in Morocco.

Abstract

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease caused by mutations in the MEFV gene and is characterized by recurrent febrile episodes of abdominal pain, chest pain, and joint involvement. We aim to study the clinical and genetic features of FMF in Moroccan children and to establish a phenotype-genotype correlation in this group of patients.

Methods: A total of 35 patients were included in this study. Genetic analysis of exon 10 of the MEFV gene was performed in 33 patients. To establish a phenotype-genotype correlation, we statistically compared clinical features between patients with and without the M694V mutation.

Results: Abdominal pain was observed in 82.9% of our patients, followed by fever (74.3%), arthralgia (85.7%), arthritis (42.8%), chest pain (34.3%), and IgA vasculitis (20%). Genetic analysis showed a predominance of the M694V mutation (62.5%), followed by A744S (11.4%) and K695R (5.7%). The presence of the M694V genotype was found to be significantly associated with a high frequency of arthralgia and arthritis. A significant association was found with an earlier age of onset in the absence of the M694V mutation.

Conclusion: Joint involvement is more common in the M694V genotype, and the genetic profile shows different results compared to neighboring countries.