Vol 81, Supp. II (2023): Zeszyty Edukacyjne 2/2023
Opinie i stanowiska ekspertów
Published online: 2024-02-06
Stanowisko ekspertów Polskiego Towarzystwa Kardiologicznego dotyczące diagnostyki i leczenia amyloidozy transtyretynowej serca
Abstract
Z uwagi na rzadkie występowanie w Polsce amyloidozy transtyretynowej serca (ATTR-CM, transthyretin amyloidosis cardiomyopathy) pacjenci napotykają na liczne trudności na etapie diagnostyki i leczenia. Kluczowe dla powodzenia diagnostyki jest wysunięcie podejrzenia ATTR-CM, a więc zidentyfikowanie typowych scenariuszy klinicznych między innymi niewydolności serca z zachowaną frakcją wyrzutową (HFpEF, heart failure with preserved ejection fraction), czy cech amyloidozy tzw. red flags. W większości przypadków możliwe jest postawienie rozpoznania w oparciu o diagnostykę nieinwazyjną. W niniejszym opracowaniu przedstawiono zalecane algorytmy diagnostyczne z uwzględnieniem badań laboratoryjnych, obrazowych, w tym szczególnie badań izotopowych, jak również badań genetycznych. Wobec konieczności różnicowania ATTR-CM z amyloidozą łańcuchów lekkich, omówiono zagadnienia hematologiczne i diagnostykę inwazyjną. Zwrócono uwagę na objawy neurologiczne amyloidozy. Przedstawiono możliwości leczenia przyczynowego ATTR-CM za pomocą jedynego zarejestrowanego leku, jakim jest tafamidis. Omówiono leki będące w fazie badań klinicznych. Przedstawiono odrębności leczenia objawowego niewydolności serca w przebiegu ATTR-CM oraz zalecenia dotyczące postępowania niefarmakologicznego i monitorowania choroby. Podkreślono potrzebę zapewnienia pacjentom z ATTR-CM dostępu do leczenia przyczynowego tafamidisem w ramach programu lekowego — jak w przypadku innych chorób rzadkich — aby dostępne było w Polsce leczenie zgodne z zaleceniami Europejskiego Towarzystwa Kardiologicznego (ESC, European Society of Cardiology) dotyczącymi niewydolności serca i kardiomiopatii.
Keywords: amyloidoza łańcuchów lekkichamyloidoza transtyretynowakardiomiopatia amyloidowaniewydolność serca z zachowaną frakcją wyrzutowątafamidis
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