医学
MEFV公司
卡那努马布
阿纳基纳
视网膜血管炎
家族性地中海热
血管炎
强的松
皮肤病科
基因突变
疾病
病理
外科
突变
基因
生物化学
化学
作者
Natàlia Anglada-Masferrer,Yann Bertolani,Liliana Gutuleac,Juan Valls,Laura Distéfano,Eric Kirkegaard-Biosca
标识
DOI:10.1080/09273948.2024.2317978
摘要
To investigate the rare manifestation of retinal vasculitis in Familial Mediterranean fever (FMF) and its correlation with specific gene mutations, particularly the MEFV gene, with a focus on the severity of phenotypes and systemic vasculitis.A case report of a 45-year-old Armenian patient with FMF history and dual mutations (M680I and M694V) was analyzed. Clinical assessments, including ocular examinations, were conducted at various stages of the disease. Treatment modalities, including prednisone, Anakinra, and Canakinumab, were administered and their effectiveness was assessed.The patient presented with bilateral ocular pain and decreased vision, exhibiting acute anterior uveitis, perivascular hemorrhages resembling Roth spots, and subsequent features of persistent vascular sheathing and cotton-wool spots. Dual mutations, especially M694V, were associated with a severe phenotype and systemic vasculitis. Treatment with prednisone induced remission, and IL-1 pathway inhibition with Anakinra and Canakinumab successfully managed relapses.This case underscores the rarity of retinal vasculitis in FMF, particularly involving arteries, and highlights the correlation between specific gene mutations (M680I, M694V) and disease severity. The successful management with IL-1 pathway inhibitors suggests a potential therapeutic approach. Increased clinical awareness, further research, and reporting are crucial for optimizing the understanding and treatment of FMF-related ocular manifestations.
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