Open AccessM680I/M694V Heterozygous Mutation in Early Onset Familial Mediterranean Fever
Author(s) -
Widad Maha Darwish,
Sohaib Bassel Darwish,
Muhammad Darwish,
Bassel Fayez Darwish
Publication year - 2021
Publication title -
journal of medical cases
Language(s) - Uncategorized
Resource type - Journals
eISSN - 1923-4163
pISSN - 1923-4155
DOI - 10.14740/jmc3747
Subject(s) - familial mediterranean fever , mefv , medicine , abdominal pain , disease , mutation , genetic disorder , chest pain , gene mutation , immunology , gene , genetics , biology
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder affecting individuals with biallelic pathogenic mutations in the MEFV gene. The disease is characterized by recurrent attacks of fever and serosal inflammation as manifested by abdominal and chest pain. This case report presents an FMF case with a 3-year history of pain crises consisting of severe abdominal pain and fever, lasting up to 72 h. Genetic investigation identified an uncommon heterozygous mutation in the MEFV gene. This mutation is associated with a more severe phenotype of FMF and may lead to an early onset of the disease.