Amyloidosis Familial

Overview

Type of disease: Genetic, autosomal dominant | Adult | Rare conditions

The common type of inherited amyloidosis is caused by a mutation in the transthyretin (TTR) gene. The protein deposits as amyloid fibrils. Symptoms of disease include neuropathy, orthostatic hypotension, and cardiomyopathy. ATTR is found in many ethnic groups. More than 100 different mutations are known. Treatment is a liver transplant. New drugs are in clinical trials. Other rare mutations include apolipoprotein A-I (apolipoprotein A-II, gelsolin, fibrinogen, and lysozyme.

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