Rheumatol Int
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
Published: January 2018
Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent episodes of fever and polyserositis. To date, over 317 MEFV mutations have been reported, only nine of which account for almost all Japanese patients with FMF. Therefore, the prevalence of rare MEFV variants and their clinical characteristics remains unclear. This study identified MEFV mutations previously unreported in the Japanese population and described their clinical features. We performed MEFV genetic testing in 488 Japanese patients with clinically suspected FMF. Of these patients, we retrospectively analyzed three patients with novel or very uncommon MEFV mutations. In all patients, the clinical diagnosis of FMF was made according to Tel-Hashomer's criteria. One novel missense mutation (N679H) and two rare mutations (T681I and R410H) were identified in the MEFV gene. These mutations were found in compound heterozygous or complex genotypes with other known mutations in exons 1 or 2. According to clinical images, all three patients exhibited typical FMF symptoms. A number of patients with FMF caused by novel or uncommon MEFV variants might exist in the Japanese population; therefore, careful genetic testing is required for accurate diagnosis of this curable genetic disorder.
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http://dx.doi.org/10.1007/s00296-017-3886-z | DOI Listing |
Neuropediatrics
January 2025
Department of Pediatric Neurology, Izmir Katip Celebi University, Tepecik Training and Research Hospital, Izmir, Turkey.
Purpose: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever and serositis, caused by mutations in the gene. Inflammatory pathways associated with FMF are linked to increased proinflammatory cytokines, which may be related to primary headaches, including migraine. The aim of this study was to evaluate the frequency of migraine and other primary headaches in FMF patients.
View Article and Find Full Text PDFLiver Int
February 2025
Sorbonne Université, Service Médecine Interne, Centre de référence des maladies autoinflammatoires et des amyloses (CEREMAIA), Assistance Publique des hôpitaux de Paris, Hôpital Tenon, Paris, France.
Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV mutations. FMF patients can experience liver involvement, potentially leading to cirrhosis.
Objectives: This study aimed to evaluate liver involvement in FMF patients at a French tertiary centre for adult FMF.
Allergol Immunopathol (Madr)
January 2025
Faculty of Medicine, Department of Pediatric Allergy and Immunology, Ondokuz Mayıs University, Samsun, Turkey.
Background: Familial Mediterranean Fever is a common genetic autoinflammatory disease prevalent in the Mediterranean region. The clinical course of the disease is characterized by fever and serositis attacks. While defects in the innate immune system are known to play a role in the pathogenesis of the disease, the impact of the adaptive immune system remains unclear.
View Article and Find Full Text PDFCurr Pain Headache Rep
January 2025
Department of Anesthesiology, Louisiana State University Health Sciences Center at Shreveport, Shreveport, LA, 71103, USA.
Purpose Of Review: Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder predominantly affecting individuals of Mediterranean and Middle Eastern descent, including those with certain heritages including Sephardic Jewish, Armenian, Turkish, and Arab. The disorder affects up to 1 in 200 people making it a very common etiology for pain states worldwide, including serositis mediated painful states of the chest, joint, and abdomen.
Recent Findings: Defined by recurrent episodes of fever and inflammation, FMF can lead to not only severe pain, but complications such as renal amyloidosis, if untreated.
J Clin Med
December 2024
Department of Internal Medicine, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.
: Protracted febrile myalgia (PFM) is a rare but severe form of myalgia mainly occurring in pediatric patients with familial Mediterranean fever (FMF). PFM imaging and histopathological data remain scarce. : A comprehensive clinical, imaging, and histopathological characterization of PFM was performed by retrospectively analyzing a reference center cohort of adult patients with FMF and myalgia, and by a PubMed search of well-described cases with PFM.
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