Descripción de un caso de Fiebre Mediterránea Familiar
- Beatriz Buño Ramilo
- Marcos Daniel Montero González 1
- María de Carmen Vázquez Friol
- María Dolores Rivera Mosquera 1
- 1 Servicio de M. Interna C.H.U. Ferrol
- Cardoso, M Teresa
ISSN: 0304-4866, 1989-3922
Ano de publicación: 2021
Volume: 82
Número: 1
Páxinas: 30-32
Tipo: Artigo
Outras publicacións en: Galicia Clínica
Resumo
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder with an autosomal recessive inheritance pattern, due to mutations in the MEFV gene. The onset of the disease occurs before the age of 30 and is characterized by recurrent attacks of fever and serositis lasting 1-4 days and spontaneously healing. We present the case of a family that meets clinical criteria for FMF and presents only one heterozygous mutation in the MEFV gene, which corroborates the possibility of a dominant expressiveness pattern in FMF