Türkiye Genelinde Transtiretin Kardiyak Amiloidozlu Hastalarda Tanı ve Tedavi Süreçlerinin Çok Merkezli Retrospektif Analizi

Öz

Amaç: Transtiretin kardiyak amiloidoz (ATTR), sıklıkla tanıda gecikmelerin yaşandığı, multisistemik tutulum gösteren ve prognozu ciddi bir hastalıktır. Bu çalışmada, Türkiye’de üçüncü basamak merkezlerde tanı alan ATTR olgularının klinik, tanısal ve tedaviye yönelik özelliklerinin değerlendirilmesi amaçlanmıştır. Yöntem: Ocak 2015 – Aralık 2023 yılları arasında yedi merkezde transtiretin kardiyak amiloidoz tanısı almış 38 hasta retrospektif olarak incelendi. Demografik veriler, başvuru şikâyetleri, laboratuvar ve görüntüleme bulguları, kırmızı bayrak özellikleri, tanı yöntemleri ve farmakolojik tedavi yaklaşımları analiz edildi. Bulgular: Çalışmaya dâhil edilen hastaların ortalama yaşı 59,3±12,9 yıl olup %57,9’u erkekti. En sık başvuru yakınması halsizlikti (%78,9). Kırmızı bayrak özellikleri arasında periferik nöropati (%61,1), ortostatik hipotansiyon (%44,4) ve gastrointestinal yakınmalar (%37,1) ön plandaydı. Kardiyak değerlendirmelerde düşük voltajlı EKG (%54,1), granüler sparkling (%54,1) ve ileri diyastolik disfonksiyon (%39,5) sık görüldü. PYP sintigrafisinde Grade 2–3 tutulumu %92,1 hastada saptandı. Genetik analizlerde %55 ATTRv, %15 ATTRwt, %30 negatif sonuç elde edildi. Tafamidis kullanan hastalarda kalp yetersizliği bulguları (p=0,022) ve proteinüri (p=0,007) anlamlı derecede daha yüksek oranda izlendi. Sonuç: Türkiye’de ATTR olguları beklenenden daha genç yaşta ve herediter formların baskın olduğu bir klinik spektrumla karşımıza çıkmaktadır. Kırmızı bayrak bulgularının yüksek oranlarda görülmesi, tanı sürecinde multidisipliner yaklaşımın önemini ortaya koymaktadır. PYP sintigrafisinin biyopsi ihtiyacını azalttığı görülmüş olup, tafamidis tedavisinin daha ağır seyirli olgularda tercih edildiği anlaşılmaktadır. Bu sonuçlar, ulusal düzeyde tanısal farkındalık ve tedaviye erişimin artırılmasının önemini vurgulamaktadır.

Anahtar Kelimeler

• Kardiyak amiloidoz
• transtiretin
• kırmızı bayrak bulguları
• tafamidis

A Nationwide Multicenter Retrospective Analysis of Diagnostic and Therapeutic Pathways in Patients with Transthyretin Cardiac Amyloidosis in Türkiye

Öz

ChatGPT:Objective: Transthyretin cardiac amyloidosis (ATTR) is a progressive multisystemic disorder with a poor prognosis and frequent diagnostic delays. This study aimed to evaluate the clinical, diagnostic, and therapeutic characteristics of patients diagnosed with ATTR in tertiary referral centers across Turkey. Methods: A total of 38 patients diagnosed with transthyretin cardiac amyloidosis between January 2015 and December 2023 in seven tertiary centers were retrospectively analyzed. Demographic data, presenting symptoms, laboratory and imaging findings, red flag features, diagnostic modalities, and pharmacological treatment approaches were evaluated. Results: The mean age of the study population was 59.3 ± 12.9 years, and 57.9% were male. The most common presenting symptom was fatigue (78.9%). Among red flag features, peripheral neuropathy (61.1%), orthostatic hypotension (44.4%), and gastrointestinal symptoms (37.1%) were prominent. Cardiac findings included low-voltage ECG (54.1%), granular sparkling (54.1%), and advanced diastolic dysfunction (39.5%). Grade 2–3 myocardial uptake on PYP scintigraphy was observed in 92.1% of patients. Genetic testing revealed ATTRv in 55%, ATTRwt in 15%, and negative results in 30% of cases. Patients receiving tafamidis had significantly higher rates of heart failure symptoms (p = 0.022) and proteinuria (p = 0.007). Conclusion: ATTR cases in Turkey appear at a younger age and predominantly represent hereditary forms. The high prevalence of red flag features underscores the need for a multidisciplinary approach to early diagnosis. PYP scintigraphy substantially reduced the need for endomyocardial biopsy, while tafamidis treatment was more commonly used in patients with advanced clinical manifestations. These findings highlight the importance of enhancing national awareness and improving access to diagnostic and therapeutic options for ATTR.

Anahtar Kelimeler

• Cardiac amyloidosis
• transthyretin
• red flag signs
• tafamidis

Kaynakça

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