Familial mediterranean fever: clinical case

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Abstract

Background. Familial Mediterranean fever (FMF) is the brightest exponent of autoinflammatory diseases. FMF usually occurs to people of Mediterranean origin (Jews, Armenians, Azerbaijanis, Arabs, Kurds, Greeks, Turks and Italians). This is a hereditary disease with the autosomal recessive inheritance. Includes history of research, epidemiology FMF, variants of the disease course, methods of treatment.

Clinical case description. A 61-year-old woman arrived complaining of weakness, fever, joint pain. First sign of disease showed at 20-years-old. When she came in: WBC 20.1–109/l, HGB 6.7 g/ml, ESR 60 mm/h, CRP 100 mg/l, CRP 202 μmol/L, UREA 19.7 mmol/L. Quantity of protein in one liter of urine 0.160 g. Ultrasonic signs of pyelectasis in both kidneys. The diagnosis was made on the basis of characteristic attacks of fever, polyarthritis, thoracalgia of Armenian nationality patient. The diagnosis was confirmed by the detection of amyloidosis and genetic data.

Conclusion. Knowledge of the FMF clinical profile is important for differential diagnosis with many acute conditions, e.g. acute abdomen, myocardial infarction, pneumothorax, rheumatic diseases. It is important to remember that untimely diagnosis and improper treatment lead to the development of AA-amyloidosis (30–40%) with the outcome of renal failure.

About the authors

Roman S. Saykovskiy

Federal Scientific and Clinical Center for Specialized Medical Assistance and Medical Technologies of the Federal Medical Biological Agency

Author for correspondence.
Email: rheumacenter@yandex.ru
ORCID iD: 0000-0002-8728-9497

канд. мед. наук, руководитель ревматологического центра Федерального научно-клинического центра специализированных видов медицинской помощи и медицинских технологий

Russian Federation, 28, Orekhovy boulevard, Moscow, 115682

S. V. Sadovnikova

Federal Scientific and Clinical Center for Specialized Medical Assistance and Medical Technologies of the Federal Medical Biological Agency

Email: irheumacenter@yandex.ru

врач-ревматолог Федерального научно-клинического центра специализированных видов медицинской помощи и медицинских технологий

Russian Federation, 28, Orekhovy boulevard, Moscow, 115682

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2. Fig. Patient A., 61: the development of clinical manifestations of familial Mediterranean fever

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Copyright (c) 2019 Saykovskiy R.S., Sadovnikova S.V.

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