Transthyretin (TTR) is a protein with the main function of transporting thyroxine and retinol (vitamin A). However, it can also be associated with the formation and deposition of amyloid fibril proteins into organs and tissues, especially the nervous system and cardiac tissue, leading to organ dysfunction. Patients with TTR-related amyloidosis (ATTR) with cardiac involvement may develop arrhythmias or symptoms suggestive of chronic heart failure, whereas patients with neuropathic involvement may include 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, and these mutations accelerate amyloid formation and are the most 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 short quiz.
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Cite this: Jefferson R. Roberts. Fast Five Quiz: Presentation and Diagnosis of Hereditary (Familial) Transthyretin-Related Amyloidosis (hATTR) - Medscape - Jul 11, 2019.
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