Hereditary transthyretin amyloidosis

Abstract:

Hereditary transthyretin amyloidosis (hATTR) is a rare, progressive and fatal disease characterized by the abnormal accumulation of a protein amyloid in the body's organs and tissues. The global prevalence of hATTR is estimated at about 50,000 people, with different manifestations depending on the affected organs. It was previously called transthyretin familial amyloid polyneuropathy or familial amyloid cardiomyopathy, and was named according to the most dominant clinical presentation. While non-hereditary, wild-type ATTR amyloidosis primarily affects the heart, hATTR amyloidosis affects multiple organs and body systems, such as the heart, nervous system, gastrointestinal tract, and kidneys. Hereditary transthyretin-mediated amyloidosis affects men and women equally; however, in men, the disease typically occurs at an earlier age, and the penetrance of the disease is higher. In addition, the cardiac type of hATTR occurs more often in men.

Key words:
cardiomyopathy; genetics; hereditary amyloidosis