Tafamidis Therapy in Transthyretin Cardiac Amyloidosis: Insights from a Single Center

Öz

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive, life-threatening disease characterized by extracellular deposition of amyloid fibrils. Tafamidis is currently the only approved pharmacologic therapy for ATTR-CM, with proven efficacy in clinical trials. However, real-world data, particularly from Türkiye, remain limited. This study aimed to assess the clinical characteristics, treatment responses, and outcomes of patients with ATTR-CM receiving tafamidis in real-world single-center Turkish patients. This was a retrospective, single center, observational study including 13 patients diagnosed with ATTR-CM. Demographic, clinical, echocardiographic, laboratory, and follow-up data were collected. Tafamidis usage, tolerance, and long-term outcomes including mortality, heart failure hospitalization, and biomarker trends were analyzed. Among 13 patients (mean age: 71.4 ±12.2 years; 53.8% male), 8 had ATTRwt and 5 had ATTRv. At baseline, 69.2% were NYHA Class III. The mean treatment duration was 21.6 ±10.4 months. At one year, 92.3% of patients remained on therapy; by year three, five patients had died (38.5%), mostly due to heart failure. Patients who died were older (79 ±6.4 vs. 66.6 ±12.0 years, p=0.035), had worse baseline NYHA class (p=0.033), higher sPAP (p=0.045), and reduced LA reservoir strain (p=0.046). NT-proBNP decreased in 23.1% of patients during the first year, predominantly in those with ATTRv. Tafamidis was generally well tolerated. This single-center real-world study from Türkiye offers valuable insights into tafamidis use in ATTR-CM, highlighting the prognostic relevance of early diagnosis and baseline functional status, and supporting its feasibility, tolerability, and potential clinical benefit in routine care despite the small sample size.

Anahtar Kelimeler

• Cardiac amyloidosis
• real-world data
• tafamidis
• transthyretin

Transtiretin Kardiyak Amiloidoz’da Tafamidis Tedavisi: Tek Merkez Deneyimi

Öz

Transtiretin amiloid kardiyomiyopatisi (ATTR-KM), amiloid fibrillerinin ekstrasellüler birikimi ile karakterize yaşamı tehdit eden bir hastalıktır. Tafamidis, ATTR-KM için etkinliği klinik çalışmalarda kanıtlanmış ve onaylanmış tek farmakolojik tedavidir. Ancak, gerçek yaşam verileri, özellikle Türkiye'den elde edilen veriler oldukça sınırlıdır. Bu çalışma, gerçek yaşam koşullarında tafamidis tedavisi alan ATTR-KM'li Türk hastaların klinik özelliklerini, tedavi yanıtlarını ve uzun dönem sonuçlarını değerlendirmeyi amaçlamaktadır. Bu retrospektif, tek merkezli, gözlemsel çalışmaya ATTR-KM tanısı konmuş 13 hasta dahil edildi. Demografik, klinik, ekokardiyografik, laboratuvar ve takip verileri takip dosyalarından elde edildi. Tafamidis kullanım süresi, ilaca tolerans ve uzun dönem sonuçlar (mortalite, kalp yetersizliği nedeniyle hastaneye yatış ve biyobelirteç değişimleri) değerlendirildi. Çalışmaya dahil edilen 13 hastanın ortalama yaşı 71,4 ±12,2 yıl olup, %53,8’i erkekti. Sekiz hastada ATTRwt (vahşi tip), beş hastada ise ATTRv (herediter tip) mevcuttu. Başlangıçta hastaların %69,2’si NYHA Sınıf III’teydi. Ortalama tedavi süresi 21,6 ±10,4 ay idi. Birinci yıl sonunda hastaların %92,3’ü tedaviye devam ederken, üçüncü yıl sonunda beş hasta (%38,5) yaşamını yitirmişti; ölümlerin çoğu kalp yetersizliğine bağlıydı. Kaybedilen hastalar daha ileri yaşta (79 ±6,4 vs. 66,6 ±12,0 yıl; p=0,035), başlangıçta daha ileri NYHA sınıfında (p=0,033), daha yüksek sPAP değerine sahipti (p=0,045) ve sol atriyum rezervuar strain değerleri daha düşüktü (p=0,046). İlk yıl içerisinde hastaların %23,1’inde NT-proBNP düzeylerinde azalma saptandı ve bu azalma daha çok ATTRv grubunda gözlendi. Tafamidis genel olarak iyi tolere edildi. Türkiye’den elde edilen bu tek merkezli gerçek yaşam verileri, tafamidis kullanımına ilişkin önemli bilgiler sunmakta; erken tanı ve başlangıçtaki fonksiyonel durumun prognostik önemine işaret etmektedir. Küçük örneklem büyüklüğüne rağmen, tafamidis tedavisinin uygulanabilirliğini, tolere edilebilirliğini ve potansiyel klinik faydasını desteklemektedir.

Anahtar Kelimeler

• Cardiac amyloidosis
• real-world data
• tafamidis
• transthyretin
• treatment

Kaynakça

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