Hereditary ATTR Val122Ile Cardiac Amyloidosis | oneAMYLOIDOSISvoice
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Hereditary ATTR Val122Ile Cardiac Amyloidosis

key information

source: University College London


Hereditary ATTR amyloidosis is an inherited genetic disease in which there is thickening and stiffening of the heart muscle, due to a build-up of abnormal protein. This abnormal protein may also build up in the carpal tunnels in the wrists and in the lower back known as the lumbar canal. Most patients are at least 60 years of age. 

This condition is more common in men than in women, and is particularly common in people of Afro-Caribbean or African American ancestry, about one in twenty of whom possess the gene that predisposes them to developing this condition.

Until recently many people with ATTR amyloid affecting the heart were misdiagnosed as having heart disease due to other more common causes, such as high blood pressure or ischaemic heart disease. Hereditary ATTR amyloidosis (the most commonly recognised form of hereditary systemic amyloidosis worldwide) 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. 

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