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

Jefferson R. Roberts, MD

Disclosures

February 04, 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 amyloid TTR-related amyloidosis (ATTR) 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 ATTR 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 ATTR.

How much do you know about the presentation and diagnosis of hereditary (familial) ATTR (hATTR)? Test your knowledge with this quick quiz.

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