Familial Mediterranean Fever
Özet
Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder primarily affecting Mediterranean populations due to mutations in the MEFV gene. Chronic systemic inflammation in FMF extends beyond serosal membranes to involve the cardiovascular system, predisposing patients to pericarditis, myocarditis, cardiomyopathy, atherosclerosis, thrombophilia, and pulmonary hypertension. Inflammation-driven endothelial dysfunction and amyloid deposition contribute to vascular and myocardial complications, increasing morbidity and mortality. Colchicine remains the cornerstone of treatment, significantly reducing inflammatory burden and preventing amyloidosis-related complications. However, IL-1 inhibitors have emerged as adjunctive therapies for colchicine-resistant cases. Genetic predisposition—especially homozygous M694V mutations—is strongly correlated with disease severity and amyloidosis risk. Advanced echocardiography, cardiac MRI, and biomarker analyses aid in early detection of cardiovascular involvement. Epidemiological studies suggest an increased prevalence of venous thromboembolism, coronary artery disease, and myocardial infarction among FMF patients, highlighting the need for proactive cardiovascular monitoring. This chapter underscores the necessity of a multidisciplinary approach integrating genetic analysis, imaging modalities, and targeted anti-inflammatory therapies to mitigate cardiovascular risks in FMF patients. Future research should focus on refining therapeutic strategies to prevent long-term cardiovascular sequelae associated with chronic inflammation in FMF.
Ailesel Akdeniz Ateşi (FMF), Akdeniz toplumlarında yaygın olarak görülen, MEFV gen mutasyonlarına bağlı otoinflamatuar bir hastalıktır. Kronik sistemik inflamasyon, yalnızca seröz membranları değil, aynı zamanda perikardit, miyokardit, kardiyomiyopati, ateroskleroz, trombofili ve pulmoner hipertansiyon gibi kardiyovasküler komplikasyonlara da yol açmaktadır. Endotel disfonksiyonu ve amiloid birikimi, vasküler ve miyokardiyal tutulumu artırarak morbidite ve mortaliteyi yükseltmektedir. FMF tedavisinde kolşisin temel taşını oluşturmakta, inflamatuar yükü azaltarak amiloidoza bağlı komplikasyonları önlemektedir. IL-1 inhibitörleri, kolşisine dirençli vakalar için tamamlayıcı tedavi seçeneği olarak giderek daha fazla kullanılmaktadır. Genetik yatkınlık—özellikle homozigot M694V mutasyonları—hastalık şiddeti ve amiloidoz riski ile güçlü şekilde ilişkilidir. Gelişmiş ekokardiyografi, kardiyak MRG ve biyomarker analizleri, kardiyovasküler tutulumun erken teşhisinde kritik rol oynamaktadır. Epidemiyolojik çalışmalar, FMF hastalarında venöz tromboembolizm, koroner arter hastalığı ve miyokard enfarktüsü sıklığında artış olduğunu göstermekte ve proaktif kardiyovasküler izlem ihtiyacını vurgulamaktadır. Bu bölüm, FMF hastalarında kardiyovasküler riskleri azaltmak için genetik analizler, görüntüleme yöntemleri ve hedefe yönelik antiinflamatuar tedavilerin multidisipliner bir yaklaşımla uygulanmasının önemini ele almaktadır. Gelecekteki araştırmalar, FMF’ye bağlı kronik inflamasyonun uzun vadeli kardiyovasküler sonuçlarını önlemeye yönelik tedavi stratejilerini optimize etmeye odaklanmalıdır.
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