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Hereditary ATTR Amyloidosis (hATTR)

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Last updated: 16th Sep 2020
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.

  

Patients may present with peripheral and/or autonomic neuropathy, or symptoms associated with cardiomyopathy. Many present with a mixed phenotype, which may include sensory, motor, autonomic or cardiac symptoms. In addition,  accumulation of amyloid in the eyes, kidneys, thyroid and adrenal glands and blood vessels can lead to a diverse range of clinical manifestations of the disease. Diagnosing hereditary ATTR amyloidosis therefore often requires multidisciplinary collaboration.

The liver is responsible for the production of TTR and therefore liver transplantation has long been used in the treatment of hereditary ATTR amyloidosis. More recently, the development of drugs that stabilise TTR tetramers as well as gene silencing techniques have provided alternative treatment options for these patients.

To find out more about hereditary ATTR amyloidosis visit our dedicated Learning Zone, which contains further information on the neurological and cardiac symptoms.

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