Familial Mediterranean fever: issues of diagnosis and treatment
Familial Mediterranean fever is an autoinflammatory genetically determined autosomal recessive disease caused by a mutation of the MEFV gene. Familial Mediterranean fever is recorded mainly in populations of Middle Eastern origin, historically inhabiting the territories of the Eastern Mediterranean....
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Open Systems Publication
2023-07-01
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| Series: | Лечащий Врач |
| Subjects: | |
| Online Access: | https://journal.lvrach.ru/jour/article/view/1093 |
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| Summary: | Familial Mediterranean fever is an autoinflammatory genetically determined autosomal recessive disease caused by a mutation of the MEFV gene. Familial Mediterranean fever is recorded mainly in populations of Middle Eastern origin, historically inhabiting the territories of the Eastern Mediterranean. Taking into account the increasing migration of the population, there is an increase in cases of Mediterranean fever in countries far from the Mediterranean region, including in our country. Manifestations of familial Mediterranean fever include episodes of fever, acute abdominal pain and/or chest pain lasting up to 3 days. After three days of acute course, complete relief of symptoms occurs according to laboratory data and clinical manifestations. Knowledge about the clinical manifestations, diagnosis and treatment of familial Mediterranean fever is necessary for practitioners of various specialties. The clinical manifestations of an attack of familial Mediterranean fever resemble an acute abdomen and patients are often subjected to unjustified surgical intervention. In some cases, an untimely diagnosis increases the risk of amyloidosis and chronic renal failure, and modern therapy can improve the quality of life of patients and prevent the development of complications. The goals of familial Mediterranean fever treatment are to improve the quality of life, reduce the frequency, severity and duration of seizures, prevent disability and the development of complications, in particular amyloidosis. Taking into account the variety of clinical manifestations and the severity of the disease in different patients, treatment should always be selected individually. The introduction of colchicine into clinical practice radically changed the prognosis for familial Mediterranean fever. The risk of developing amyloidosis in patients who adhere to colchicine therapy is less than 1%, even in cases where there is no complete control of seizures. Thus, all patients with familial Mediterranean fever are recommended lifelong prevention with colchicine, regardless of the symptoms, unless serious side effects occur during its administration. The experience of using IL-1β antagonists, anakinra and kanakinumab, is currently available in thousands of patients with colchicine resistance. In case of ineffectiveness of kanakinumab and contraindications to its administration, TNF-α inhibitors are used. |
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| ISSN: | 1560-5175 2687-1181 |