A case of late diagnosis of familial Mediterranean fever in a compound-heterozygous patient
https://doi.org/10.47360/1995-4484-2025-648-651
Abstract
A clinical case of familial Mediterranean fever (FMF) in an adult patient of Armenian nationality is presented. In this case, the diagnosis was established only 9 years after the onset of clinical symptoms and confirmed by genetic testing, which revealed compound heterozygosity for the MEFV gene. The administration of colchicine at a dose of 1 mg per day completely eliminated the clinical manifestations of the disease. Observation confirms the need for caution regarding the development of FMF in representatives of vulnerable ethnic groups, even not in the regions of their compact residence.
About the Authors
N. L. Tov
Novosibirsk State Medical University
Russian Federation
Competing Interests:
Russian Federation
Nikita L. Tov
630091, Novosibirsk, Krasny avenue, 52
Competing Interests:
none
I. N. Grigorieva
Research Institute of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Competing Interests:
Russian Federation
Irina N. Grigorieva
630089, Novosibirsk, Borisa Bogatkova str., 175/1
Competing Interests:
none
O. I. Dorovskaya
State Novosibirsk Regional Clinical Hospital
Russian Federation
Competing Interests:
Russian Federation
Olga I. Dorovskaya
630087, Novosibirsk, NemirovichaDanchenko str., 130
Competing Interests:
none
K. A. Brezhneva
State Novosibirsk Regional Clinical Hospital
Russian Federation
Competing Interests:
Russian Federation
Kristina A. Brezhneva
630087, Novosibirsk, NemirovichaDanchenko str., 130
Competing Interests:
none
E. A. Movchan
Novosibirsk State Medical University
Russian Federation
Competing Interests:
Russian Federation
Elena A. Movchan
630091, Novosibirsk, Krasny avenue, 52
Competing Interests:
none
E. N. Berezikova
Novosibirsk State Medical University
Russian Federation
Competing Interests:
Russian Federation
Ekaterina N. Berezikova
630091, Novosibirsk, Krasny avenue, 52
Competing Interests:
none
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Review
For citations:
Tov N.L., Grigorieva I.N., Dorovskaya O.I., Brezhneva K.A., Movchan E.A., Berezikova E.N. A case of late diagnosis of familial Mediterranean fever in a compound-heterozygous patient. Rheumatology Science and Practice. 2025;63(6):648-651. (In Russ.) https://doi.org/10.47360/1995-4484-2025-648-651
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