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Hereditary ATTR Amyloidosis (hATTR)

Read time: 5 mins
Last updated: 15th Jan 2021

Hereditary ATTR amyloidosis is a life-threatening disease caused by a mutation in the TTR gene, which results in misfolded TTR that may aggregate to form insoluble amyloid fibrils. These fibrils are deposited in various organs, most commonly accumulating in the nerves, heart and gastrointestinal tract, with heterogeneous presentation and varying prognosis according to the specific genetic mutation.

Hereditary ATTR Amyloidosis (hATTR)

When hereditary ATTR amyloidosis with polyneuropathy is suspected, genetic tests should be used to confirm the TTR gene mutation. Dr Isabel Conceição explains the path to diagnosis with our e-learning module