Transthyretin Amyloid Cardiomyopathy

ATTR with polyneuropathy (ATTR-PN) occurs when amyloid predominantly affects the peripheral and autonomic nerves. V30M (substitution of methionine for valine at position 30) is the most common genetic mutation associated with this disease, which is also known as familial amyloid polyneuropathy (FAP). The age of onset is typically in the 30’s or 40’s or later, depending on the genetic mutation and the patient’s ethnic background. The main feature of ATTR-PN is an abnormality in sensation (e.g. pain, touch, temperature) and muscle strength, starting in the feet and legs, and progressing to involve the hands and arms. This disease also affects the autonomic nervous system, giving symptoms like dizziness upon standing, abnormal gut function (e.g. nausea, vomiting, diarrhea, constipation), urinary symptoms (losing control of urine or difficulty urinating) and impotence. ATTR-PN is progressive often leading to death. The only treatment currently available for ATTR-PN is liver transplantation. Liver transplantation works by removing the patient’s liver that is making the abnormal protein and replacing it with a liver that makes the normal protein.