Hematological Complications in Familial Mediterranean Fever: A Case Report and Literature Review

Abstract

Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disease caused by mutations in the MEFV gene. These patients typically present with lymphocytosis and thrombocytosis during periods of inflammation; however, some patients may manifest leukopenia along with other symptoms. Demographic data, medical history, laboratory data, and genetic findings of the cases were collected by reviewing clinical records of the patient. Whole-genome sequencing test revealed a mutation in MEFV gene. A systematic searched was conducted in four databases: PubMed, Web of Science, Scopus, and PerQuest, using keywords related to blood abnormalities in FMF disease. A mutation in the MEFV gene was confirmed in a 29-year- old patient with FMF. He experienced periodic and regular decreases in the number of neutrophils, lym- phocytes, and platelets during periods of inflammation. Our literature review revealed neutropenia (17.6%), lymphopenia (8.8%), thrombocytopenia (11.8%), leukopenia (61.8%), and anemia (20.6%) are the frequent most common hematologic complications. Genetic analysis in 28 patients revealed M694V as the most prevalent mutation (57.1%), followed by E148Q (21.4%), M680I (10.7%), and others. Reporting this case and others highlights that hematological manifestations in FMF can be observed periodic and simultaneous decreases in neutrophils, lymphocytes, and platelet counts can in patients with FMF