Abstract
Amyloid transthyretin (ATTR) amyloidosis is a clinically heterogeneous and fatal disease that results from deposition of insoluble amyloid fibrils in various organs and tissues, causing progressive loss of function. The objective of this review is to increase awareness and diagnosis of ATTR amyloidosis by improving recognition of its overlapping conditions, misdiagnosis, and multiorgan presentation. Cardiac manifestations include heart failure, atrial fibrillation, intolerance to previously prescribed antihypertensives, sinus node dysfunction, and atrioventricular block, resulting in the need for permanent pacing. Neurologic manifestations include progressive sensorimotor neuropathy (e.g., pain, weakness) and autonomic dysfunction (e.g., erectile dysfunction, chronic diarrhea, orthostatic hypotension). Non-cardiac red flags often precede the diagnosis of ATTR amyloidosis and include musculoskeletal manifestations (e.g., carpal tunnel syndrome, lumbar spinal stenosis, spontaneous rupture of the distal tendon biceps, shoulder and knee surgery). Awareness and recognition of the constellation of symptoms, including cardiac, neurologic, and musculoskeletal manifestations, will help with early diagnosis of ATTR amyloidosis and faster access to therapies, thereby slowing the progression of this debilitating disease.
Highlights
Amyloid transthyretin (ATTR) amyloidosis is a progressively debilitating, clinically heterogeneous, and fatal disease caused by the buildup of transthyretin (TTR) amyloid fibrils in various organs and tissues, resulting in multisystem dysfunction in the heart, along with the peripheral and autonomic nervous systems [1–3]
The diagnosis of ATTR amyloidosis has been increasing over the last decade, and many patients have had musculoskeletal manifestations, such as carpal tunnel syndrome, distal biceps tendon rupture, idiopathic trigger finger, or spinal stenosis
The aim of this review is to increase awareness of the constellation of symptoms in patients with ATTR amyloidosis—especially the non-cardiac symptoms that cardiologists and others may not traditionally associate with ATTR amyloidosis but that are key for identifying patients with this progressive, fatal disease
Summary
Amyloid transthyretin (ATTR) amyloidosis is a progressively debilitating, clinically heterogeneous, and fatal disease caused by the buildup of transthyretin (TTR) amyloid fibrils in various organs and tissues, resulting in multisystem dysfunction in the heart, along with the peripheral and autonomic nervous systems [1–3]. Disease progression in patients with ATTR amyloidosis is remarkably fast, resulting in significant impairment of function and irretrievable loss of quality of life [9–13]. With therapies available to slow disease progression, early recognition and diagnosis of patients with ATTR amyloidosis are important to facilitate early treatment. The aim of this review is to increase awareness of the constellation of symptoms in patients with ATTR amyloidosis—especially the non-cardiac symptoms that cardiologists and others may not traditionally associate with ATTR amyloidosis but that are key for identifying patients with this progressive, fatal disease.
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