Familial Mediterranean fever (periodic disease): history or a real problem

Федоров, Е. С.; Салугина, С. О.

doi:10.14412/1996-7012-2018-3-61-69

Cited by 6 publications

(1 citation statement)

References 71 publications

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“…Мутации встречаются преимущественно среди турок, евреев, армян, а также коренных жителей Средиземноморского региона, который включает страны Ближнего Востока, Северной Африки, юга Европы [1]. В Российской Федерации заболевание распространено в основном среди лиц армянской и азербайджанской национальностей [13,14].…”

Section: Familial Mediterranean Fever In the Republic Of Crimea: A Deunclassified

Familial Mediterranean fever in the Republic of Crimea: a description of a series of cases with an analysis of historical and ethnographic aspects of the disease

Жогова

Лагунова

Ивановский

et al. 2019

Naučno-praktičeskaâ revmatologiâ

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Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease with a high prevalence in some countries. The carriers of the MEFV gene causing FML are Jews, Armenians, Turks, Arabs and other nationalities of Mediterranean origin. Crimean Tatars are one of the nations that inhabit the Crimean peninsula, who do not formally belong to Mediterranean populations. Until 2016, there were no data on FMF in Crimea among the Crimean Tatar population; however, 15 new cases of FMF have been diagnosed in the Republic of Crimea in the past 2 years. The paper provides data on FML patients and information about the ethnic origin of the Crimean Tatars, explaining the possible origin of mutant alleles in the population.

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Section: Familial Mediterranean Fever In the Republic Of Crimea: A Deunclassified

Familial Mediterranean fever in the Republic of Crimea: a description of a series of cases with an analysis of historical and ethnographic aspects of the disease

Жогова

Лагунова

Ивановский

et al. 2019

Naučno-praktičeskaâ revmatologiâ

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Abdominal syndrome in monogenic autoinflammatory disease – is it just a familial Mediterranean fever?

Олеговна¹,

Федоров²,

Volf

2020

Sovremennaâ revmatologiâ

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Gastrointestinal (GI) manifestations, such as abdominal pain, nausea, vomiting, and diarrhea, are common autoinflammatory disease (AID) symptoms. The abdominal symptomatology reflecting serositis is one of the most important classification and diagnostic criteria for the classic monogenic AID (MAID) – familial Mediterranean fever (FMF). Failure to timely diagnose FMF frequently leads to unjustified surgical interventions. Other periodic fevers may also present as abdominal symptoms; however, the latter are outside their diagnostic features. These diseases include, first of all, tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Interleukin 1 (IL1) inhibitors serve as the major targeted drugs for the treatment of TRAPS. Russia has registered the IL1 inhibitor canakinumab that prevents the development of organ damages, including those in the GI tract. The paper describes a clinical case of the classic manifestations of TRAPS (fever, rash, periorbital edema, arthritis, and elevated levels of acutephase inflammatory markers) concurrent with severe abdominalgia during attacks and with the development of severe peritoneal adhesions, which led to bowel perforation and emergency surgical intervention. The prolonged persistence of inflammatory attacks before the initiation of therapy, as well as violation of the IL1 inhibitor administration regimen facilitated the development of an urgent exacerbation. Thus, TRAPS should be included in the differential diagnostic circle for patients with severe gastrointestinal manifestations characterized by an attack-like course. These patients need timely prescription of targeted therapy, strict adherence to the dosing and intervals between drug administrations, and careful monitoring to prevent serious complications with the visceral organs, including the gastrointestinal tract, and their immediate correction.

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Biologic disease-modifying antirheumatic drugs in the treatment of major monogenic autoinflammatory diseases: literature review and clinical observation

Салугина¹,

Федоров²

2021

Sovremennaâ revmatologiâ

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Autoinflammatory diseases (AIDs) are a heterogeneous group of rare genetically determined conditions, the main manifestations of which are episodes of fever in combination with other signs of systemic inflammation: skin rashes, musculoskeletal and neurological disorders, damage to the organs of vision, hearing, etc., as well as acute phase markers and the absence of autoantibodies. The use of biological therapy, especially inhibitors of interleukin 1 (iIL1), in most common monogenic AIDs (mAID) – FMF, TRAPS, HIDS/MKD, CAPS – has shown its high efficiency and led to significant progress in the treatment of these patients. Currently, iIL1 are the first-line drugs for mAIDs therapy, primarily CAPS. In the case of their ineffectiveness or intolerance in certain situations, other biologic disease-modifying antirheumatic drugs can also be used – inhibitors of tumor necrosis factor α and iIL6, but this issue needs further investigation. The article describes a patient with mAID, in whom the diagnosis was made more than 40 years after the onset; administration of targeted therapy even in the late stages of the disease led to a significant improvement in many symptoms and quality of life.

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Familial Mediterranean fever (periodic disease): history or a real problem

Cited by 6 publications

References 71 publications

Familial Mediterranean fever in the Republic of Crimea: a description of a series of cases with an analysis of historical and ethnographic aspects of the disease

Familial Mediterranean fever in the Republic of Crimea: a description of a series of cases with an analysis of historical and ethnographic aspects of the disease

Abdominal syndrome in monogenic autoinflammatory disease – is it just a familial Mediterranean fever?

Biologic disease-modifying antirheumatic drugs in the treatment of major monogenic autoinflammatory diseases: literature review and clinical observation

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