Familial amyloid polyneuropathy (FAP) is a rare heritable disease that affects the nervous system. It is caused by mutations in the TTR gene, which provides instructions for making a protein that is normally involved in the transport of vitamin A and a hormone called thyroxine throughout the body.
Mutations in this gene cause the protein to be made incorrectly; these abnormal proteins “stick” to each other and form clumps or aggregates in tissues. These protein clumps, also called amyloids, are responsible for the symptoms of FAP.
What is peripheral neuropathy?
One of the most common symptoms of FAP is peripheral neuropathy — a loss of nerve function in the periphery of the body, including the feet, legs, hands, and arms. The manner in which this neuropathy develops may be different among patients. Early symptoms may include numbness, or a burning or tingling sensation. Patients with a loss of sensation in their feet or legs may have difficulty walking, while those who lose sensation in their hands might have problems with any task that requires fine control.
Other patients may have different problems with sensation. For example, a patient who cannot sense temperature must be careful about bathing in hot water as they may inadvertently burn themselves.
Because FAP is a progressive disease, symptoms may change and worsen over time. It is important for patients to be assessed by a physician regularly to ensure they know the extent of their neuropathy.
Treatments
There is currently no cure for FAP. However, there are treatments available to manage many of the symptoms, and many experimental therapies are also being developed.
FAP patients with peripheral neuropathy may benefit from physiotherapy. A physical therapist can help develop a safe exercise regimen to help patients maintain strength and dexterity as well as teach them how to accommodate for the loss of sensation so they do not injure themselves. The physiotherapist may also be able to prescribe orthotic braces or other support devices that can help patients who are struggling with walking or moving.
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