Hereditary ATTR (hATTR) amyloidosis—a family condition

hATTR amyloidosis is passed down through affected family members and is an autosomal dominant condition, meaning a person only needs to inherit one copy of the affected gene from one parent in order to develop the condition.

More than 120 different TTR gene mutations * have been discovered

  • The most common mutation is Val30Met and people with this mutation often initially present with polyneuropathy
  • Another mutation, Val122Ile, is common in people who initially present with cardiomyopathy
  • * mutations may vary by country or region
A family living with hATTR amyloidosis
Autosomal dominant inheritance

Genes are located on structures known as chromosomes. Every person has two copies of the TTR gene, one inherited from each parent. When one parent carries an autosomal dominant mutation, any child will have a 50% chance of inheriting that mutation.

When one parent carries a mutation in the TTR gene, any child will have a 50% chance of inheriting that mutation

A family member may inherit the TTR gene with a mutation, but having the mutation does not mean that he or she will develop hATTR amyloidosis. If you have questions, please contact your healthcare provider.

Symptoms may vary widely among people with hATTR amyloidosis

Within your family, each person who develops the condition may experience different symptoms, even if he or she has the same mutation.

Although hATTR amyloidosis is a hereditary condition, some families may be unaware of a history of the condition in their family.

References:

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Rowczenio DM, Hum Mutat. 2014;35(9):E2403-2412.
Sekijima Y, J Neurol Neurosurg Psychiatry. 2015;86(9):1036-1043.
National Institutes of Health: Department of Health and Human Services. Genetics Home Reference. Transthyretin amyloidosis. https://ghr.nlm.gov/condition/transthyretin-amyloidosis. Accessed 22nd March 2017.
Ando Y, Orphanet J Rare Dis. 2013;8:31.