Familial amyloid polyneuropathy (FAP) is a progressive disease in which patients experience severe peripheral neuropathy, cardiac dysfunction, infections, and cachexia (extreme weight loss and muscle wasting).
The life expectancy of TTR-FAP patients is about 10 years after diagnosis. The progression of the disease can vary among early- and late-onset patients — with early-onset patients, whose symptoms appear between 30 and 50 years old, usually experiencing more rapid disease progression. Disease progression is reportedly slower with a survival rate of up to 20 years among patients who develop symptoms later, after 50.
Factors affecting life expectancy
A mutant TTR gene generates a misfolded TTR protein, which forms insoluble protein deposits called amyloids in the heart, nervous system, eyes, and other tissues.
Nearly 130 different FAP-related TTR gene mutations have been identified, with the most common being the so-called Val30Met mutation where the amino acid methionine substitutes the amino acid valine. (Amino acids are building blocks of proteins).
Life expectancy of FAP patients depends on the type of TTR mutation, organ(s) affected by the disease, and how early a person is diagnosed and treated.
Although no medications can reverse the damage caused by amyloid deposits, there are several experimental and approved treatments to slow the buildup of amyloids in the nervous system and other body parts, and thereby delay disease progression and improve the life expectancy of patients.
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