A novel single variant in the MEFV gene causing Mediterranean fever and Behçet's disease: a case report

Journal of Medical Case Reports
Maria ZerkaouiAbdelaziz Sefiani

Abstract

Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal recessive inheritance due to a mutation in the MEFV gene. Behçet's disease is an inflammatory disease characterized by recurrent oral and genital aphthous ulcerations, uveitis, and skin lesions. Preliminarily, our literature review suggested that patients with familial Mediterranean fever who also have Behçet's disease have only a single mutated familial Mediterranean fever gene. The MEFV gene mutation responsible for familial Mediterranean fever is probably a susceptibility factor for Behçet's disease, particularly for patients with vascular involvement, and both disorders can occur concurrently in a patient, as in the present case. A 10-year-old girl of Moroccan origin presented to our institution for genetic consultation for genetic testing of the MEFV gene. She had fever associated with abdominal and diffuse joint pain in addition to headache. These symptoms have oriented pediatricians to familial Mediterranean fever. The evolution was marked by Behçet's syndrome symptoms. Sanger sequencing followed ...Continue Reading

References

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Apr 14, 2016·Clinical Reviews in Allergy & Immunology·Donato RiganteLuca Cantarini

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Citations

Feb 5, 2019·Rheumatology·C PapadopoulouP A Brogan
Jan 8, 2021·RMD Open·Sebastian BoegelAndreas Schwarting

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