Featuring the phenotype of the FMF prototype

Ben-Zvi, Ilan; Kassel, Yonatan; Kukuy, Olga; Herskovizh, C; Grossman, Chagai; Livneh, Avi

doi:10.1186/1546-0096-13-s1-p78

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“…В то же время существенную долю пациентов составляют гетерозиготы, доля которых среди всех больных ССЛ составляет от 16,5 до 33,8% [20,21]. Более того, у части пациентов (до 10-20%) клиническая картина ССЛ может развиться при отсутствии мутаций в гене MEFV [22]. Эти данные свидетельствуют о многообразии генетической основы ССЛ и возможном участии в ее возникновении других генов, связанных с системой естественного иммунитета, что тем не менее приводит к формированию сходного клинического фенотипа.…”

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

Федоров¹,

Салугина²

2018

RJTAO

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The review is devoted to the most common monogenic autoinflammatory disease – familial Mediterranean fever (FML) caused by MEFV gene mutation that occurs mainly in the representatives of certain ethnic groups and manifests itself as recurrent 6–72-hour attacks of pyretic fever accompanied by the phenomena of aseptic peritonitis, pleurisy, arthritis, and inflammatory rash. The disease can lead to a life-threatening complication, such as amyloidosis. FML is noted to be comorbid with a number of other inflammatory diseases: systemic vasculitis, chronic joint inflammatory diseases, and inflammatory bowel diseases. Emphasis is laid on the therapy aspects set out in the 2016 EULAR guidelines. The mainstay of treatment for FML is colchicine that prevents recurrences of the disease, minimizes the risk of amyloidosis, and should be prescribed immediately, once diagnosed. The paper deals with the definition of colchicine resistance that is observed in 5–10% of patients. Biological agents, among which interleukin-1 are most preferred, are now used to treat this category of patients. The high efficacy of these agents in patients with FML has been confirmed in randomized controlled studies.

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

Федоров¹,

Салугина²

2018

RJTAO

View full text Add to dashboard Cite

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Featuring the phenotype of the FMF prototype

Cited by 1 publication

References 0 publications

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

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

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