In ATTR amyloidosis, abnormal, unstable Transthyretin (TTR) proteins readily misfold, forming aggregates which deposit as "amyloid" in various organs and tissues in the body. TTR is mostly made in the liver. Its role is to transport the hormone thyroxine and retinol (Vitamin A) around the body, hence its name transthyretin. Hereditary ATTR amyloidosis is caused by a fault or mutation in the transthyretin (TTR) gene which is inherited (i.e. runs in families).

Two main types of ATTR amyloidosis exist:

(1) Hereditary ATTR amyloidosis (hATTR) Caused by a faulty or mutated gene that is inherited, i.e. runs in the family.
(2) Wildtype ATTR amyloidosis (ATTRwt) Develops with age; acquired not inherited.

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