Hereditary ATTR (hATTR) amyloidosis—a family condition
hATTR amyloidosis is passed down through 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 individuals with this mutation often initially present with polyneuropathy
- Another mutation, Val122Ile, is common in individuals who initially present with cardiomyopathy
Genes are located on structures known as chromosomes. Every individual 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.
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.
We’re a very close family, we share everything…if there’s a new symptom, we all want to know about it.—Sandie
Symptoms may vary widely among individuals with hATTR amyloidosis
Within your family, each individual 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.
Consider this: A relative may have died from an associated symptom without ever having been properly diagnosed.
Speaking to relatives who have experienced any of the symptoms can help identify a family history. How can you start the conversation?
Hanna M, Curr Heart Fail Rep. 2014;11(1):50-57.
Damy T, J Cardiovasc Transl Res. 2015;8(2):117-127.
Hawkins PN, Ann Med. 2015;47(8):625-638.
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 March 22, 2017.
Ando Y, Orphanet J Rare Dis. 2013;8:31.