Fast Five Quiz: Presentation and Diagnosis of Hereditary (Familial) Amyloid Transthyretin-Related (hATTR) Amyloidosis

Jefferson R. Roberts, MD


July 11, 2019

Figure. Micrograph of cardiac amyloidosis

TTR V122I appears to be the most common amyloidosis-associated TTR variant in the world. It is carried by 5% or more of the population in some areas of West Africa, where the variant originated, and also by 3.9% of African Americans.

Although not the most common amyloidosis-associated TTR variant in the world, TTR V30M is the most widespread. This variant is found throughout Europe, in North and South America, and Japan. TTR T60A originated in northwest Ireland and is found in Irish and Irish American patients. TTR G6S is the most common TTR variant, carried by about 10% of people of white European descent, but it appears to be a neutral polymorphism that is not associated with amyloidosis at all.

Learn more about amyloidosis-associated TTR variants.


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