Hereditary ATTR Amyloidosis

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant hereditary disorder caused by mutations in the TTR gene. These mutations alter the structure of transthyretin protein, affecting its ability to form tetramers. The tetramers break down and form strands of amyloid fibrils. The fibrils clump together and form amyloid deposits in tissues, causing irreversible damage. Forms of ATTR amyloidosis include neuropathic, cardiac, and leptomeningeal, which primarily affects the central nervous system.

**Synonyms:** - Familial ATTR Amyloidosis - Familial Transthyretin Amyloidosis - Hereditary Transthyretin Amyloidosis - Variant ATTR Amyloidosis - Variant Transthyretin Amyloidosis - hATTR