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

Abstract

Abstract

Background: 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.

Methods: 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.

Results: 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, lymphocytes, 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.

Conclusions: 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.