Transthyretin Amyloid Myopathy: A Diagnostic Approach - Abstract
Abstract This review will focus on clinical findings, diagnostic approaches and treatment strategies of transthyretin (ATTR) amyloid myopathy (AM). Cardiomyopathy and peripheral neuropathy are
well-recognized manifestations of ATTR amyloidosis and may be accompanied by musculoskeletal pathologies. Amyloid deposition in the skeletal musculature results in AM. As ATTR AM may precede the onset of cardiomyopathy or peripheral neuropathy by several years, increasing the awareness of its presence is crucial. This is not least because disease-modifying therapies for ATTR amyloidosis are most effective when started early in the disease course. ATTR amyloid deposition in the skeletal musculature is common. Key manifestation is the symmetric proximal weakness of upper and lower extremities. Inconclusive laboratory and neurophysiological features often lead to misdiagnosis. 99mTc-DPD scintigraphy allows non-invasive diagnosis. AM can precede other organ manifestations and allows early diagnosis and therapy initiation. Physicians should consider ATTR AM as an important red flag.