Familial Amyloid Polyneuropathy

Overview

Type of disease: Rare conditions

Familial amyloid polyneuropathy or FAP, is a rare genetic disease. There are two kinds of familial amyloid polyneuropathy. Both affect the nervous system and can lead to neuropathy. The nervous system is made up of nerves that control feeling and touching as well as automatic bodily functions like blood pressure. Neuropathy caused by FAP is characterized by numbness, tingling, weakness or pain in the arms or legs, and loss of sensation. Other symptoms include a steep drop in blood pressure, dizziness, diarrhea, constipation, nausea, and reduced sweating. These symptoms can begin as early as young adulthood but may not occur until old age.

Familial amyloid polyneuropathy is an autosomal dominant genetic disease. This means the condition is inherited through genes (passed through families). We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. If one parent has the mutation for this gene, each of their children has a 50% chance of also having it.

Liver transplantation or the drugs tafamidis or diflunisal may be used to help with the symptoms of FAP, but there are currently no known cures. Always speak with your doctor about the best personal plan of action. Support groups are available like two Amyloidosis Centers in Boston, Massachusetts.

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