Familial Mediterranean fever. New MEFV mutation with unusual clinical presentation
DOI:
https://doi.org/10.32818/reccmi.a3n3a9Keywords:
Familial Mediterranean fever, transverse myelitis, Canary IslandsAbstract
Familial Mediterranean fever is an autoinflammatory disorder characterized by recurrent bouts of fever and sterile inflammation mostly confined to serosal membranes, joints, and/or skin. The defective gen is MEFV that encodes a protein known as pyrin or also “marenostrin”. Here, we describe a case of a young woman with a transverse myelitis as the first manifestation of genetically verified disease, presenting a novel mutation in the MEFV gene and an autosomal dominant pattern of inheritance, associated with an heterozygous Leiden factor V mutation.
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Copyright (c) 2018 Francisco Romero-Santana, Loida García-Cruz, Nieves Jaén-Sánchez, Miguel Hervás-García, Alfredo Santana Rodríguez, José Luis Pérez-Arellano
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