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A rare disease with a global presence

TTR-FAP is an ultra-rare, hereditary disease of global prevalence that currently affects an estimated 8,000 to 10,000 people worldwide. The precise number of cases is difficult to determine due to challenges related to its diagnosis, and because the TTR gene will not always express itself clinically to result in disease (gene prevalence vs. gene penetrance).12 It’s important to look for TTR-FAP and consider it in your differential diagnosis when you see a progressive, length-dependent, axonal sensorimotor neuropathy with autonomic symptoms.8,9 Diagnosis of TTR-FAP is achieved by identification of TTR amyloid deposits and genetic testing to identify the TTR gene.9

The map below represents the known geographic distribution of TTR-FAP to date. Work is ongoing to determine how many more are affected by this ultra-rare disease.
To identify countries, place your cursor over the dots.


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There are endemic regions, including Portugal, Sweden, and Japan. In these countries, the disease rate ranges from 1 in 1,000 to 1 in 10,000 people.

In nonendemic regions, including the United States, France, and Brazil, TTR-FAP is believed to occur at a rate of <1 in 10,000 people.

Endemic means that a disease occurs frequently and at a predictable rate in a specific location or population.

Adapted from: Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007;36:411-423.