Medicina - Palmira

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Fiebre de Mediterráneo Familiar en una Paciente Afrodescendiente de 10 Años - Reporte de Caso
(Universidad Santiago de Cali, 2024) Perlaza Riascos, María Del Carmen; Lasso Castellanos, Karem Dayana; Alomia Lerma, Juliana; Kanan Mohamed, Talat Ahmad
Mediterranean fever is an autosomal recessive inherited autoinflammatory disease, which is more prevalent in males than in females and its age of onset is usually in people younger than 20 years in 90% of cases; however, 50% of patients may start with symptoms before the age of 10 years. The following case report shows a 10-year-old Afro-descendant patient with early onset of manifestations, with autosomal dominant mutation in the MEFV gene and other heterozygous genetic alterations. The importance of this case report lies in the unusual presentation in people of African descent, since the epidemiology of this disease is more frequent in Jewish, Armenian, Turkish and Arab people. Therefore, the information presented in this case report allows us to contribute to the knowledge of this disease, its diagnosis and manifestation in patients who are not the common phenotype or genotype of this pathology.