Hereditary ATTR Thr60Ala Amyloidosis | oneAMYLOIDOSISvoice
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Hereditary ATTR Thr60Ala Amyloidosis

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source: University College London

year: N/A

summary/abstract:

Hereditary ATTR amyloidosis is an inherited genetic disease which variably affects the nervous system and the heart. Hereditary ATTR amyloidosis was traditionally referred to as familial amyloid polyneuropathy (FAP) when disease mainly affected the nerves, or familial amyloid cardiomyopathy (FAC), when disease mainly affected the heart. However, it is now understood that in clinical practice there is significant overlap in disease manifestations, not only between patients with different mutations, but also among those with the same mutation. 

Most TTR mutations can cause amyloid deposits in both the nerves and the heart. The International Society of Amyloidosis has therefore recommended the use of the term hereditary ATTR amyloidosis to describe disease caused by ATTR amyloid deposits in all patients with TTR gene mutations.

 The commonest form of this disease seen in the UK is called ATTR Thr60Ala (or T60A) amyloidosis. It occurs most frequently in people with Irish ancestry. Symptoms usually appear between ages 45 and 80, most often after age 60. It is slightly more common in men than in women.

 

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