Diagnosis and treatment of transthyretin amyloidosis cardiomyopathy: A position statement of the Polish Cardiac Society.

Abstract

Considering the rare incidence of transthyretin amyloidosis cardiomyopathy (ATTR-CM) in Poland, patients encounter difficulties at the stage of diagnosis and treatment. For a successful diagnosis, it is vital to raise the suspicion of ATTR-CM, that is, to identify the typical clinical scenarios such as heart failure with preserved ejection fraction or the red flags of amyloidosis. In most cases, it is possible to establish the diagnosis on the basis of noninvasive tests. This document presents the recommended diagnostic algorithms including laboratory workup, imaging tests (in particular, isotope scanning), and genetic tests. Since ATTR-CM should be differentiated from light chain amyloidosis, aspects related to hematological manifestations and invasive diagnosis were also discussed. Neurological signs and symptoms in patients with amyloidosis were also described. Therapeutic options were presented, including the causative treatment of ATTR-CM with the only currently approved drug, tafamidis. Drugs that are being assessed in ongoing clinical trials were discussed. Differences in the symptomatic treatment of heart failure in ATTR-CM and recommendations for nonpharmacological treatment and monitoring of the disease were outlined. Finally, the need for providing access to the causative treatment with tafamidis as part of a drug program - as in other rare diseases - was underlined, so that patients with ATTR-CM can be treated according to the European Society of Cardiology guidelines on heart failure and cardiomyopathy.