Fast Five Quiz: Presentation and Diagnosis of Hereditary (Familial) Amyloid Transthyretin-Related (hATTR) Amyloidosis

Jefferson R. Roberts, MD

May 24, 2021

Transthyretin (TTR) is a transport protein for thyroxine and retinol. It can also be associated with the formation and deposition of amyloid fibril proteins within organs and tissues, especially the nervous system and cardiac tissue, leading to organ dysfunction. Patients with hereditary (familial) amyloid transthyretin-related (hATTR) amyloidosis with cardiac involvement may develop arrhythmias or symptoms suggestive of chronic heart failure. Patients with neuropathic involvement may present with sensorimotor impairment or neuropathy of the upper or lower limbs. Normal-sequence hATTR amyloidosis is associated with aging and typically has little or no clinical significance. More than 100 amyloidogenic TTR variants cause systemic familial amyloidosis in the variant version of the disease. These mutations accelerate amyloid formation and are an important risk factor for the development of clinically significant hATTR amyloidosis.

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Cite this: Jefferson R. Roberts. Fast Five Quiz: Presentation and Diagnosis of Hereditary (Familial) Amyloid Transthyretin-Related (hATTR) Amyloidosis - Medscape - May 24, 2021.

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