Amyloidosis, hereditary, transthyretin-related
What is hereditary transthyretin amyloidosis?
Hereditary transthyretin (hATTR) amyloidosis is a rare genetic disorder. Amyloidosis is an "umbrella" term that describes a group of disorders in which certain proteins (called amyloid) build up in the body and clump together. These abnormal clumps are called amyloid deposits and can damage the surrounding tissues or organs. hATTR amyloidosis is caused by a change (mutation) in a gene called TTR, which produces a protein called transthyretin. The change in this gene leads to an altered (misshapen) form of transthyretin, which builds up in tissues of the body. People with the condition may have problems with peripheral nerves (those outside of the central nervous system), and the autonomic nervous system, which controls involuntary actions of the body like sweating, blood pressure, and heart rate. hATTR amyloidosis can also affect the heart, eyes, kidneys, and central nervous system (brain and spinal cord).
How the disease affects one person can be very different from how it affects another person, depending on the specific change in the TTR gene, the age of onset of symptoms, and other factors. For example, some people will have heart disease, but no problems with their nerves (or only very mild problems with their nerves). People with central nervous system problems usually do not have problems with the heart or the peripheral or autonomic nerves. People with peripheral and autonomic nerve involvement may or may not have problems with their hearts. The age when symptoms develop can vary dramatically, anywhere from 20-70 years of age. Symptoms and age of onset tend to be consistent in families. hATTR amyloidosis is inherited in an autosomal dominant manner; this means that a person with the condition has a 50/50 chance to have sons or daughters with it.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/amyloidosis-hereditary-transthyretin-related/overview/38665 • DATE UPDATED: 2017-09-28
Transthyretin Amyloidosis. Genetics Home Reference website. Retrieved September 26, 2017 from https://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis
Sekigima Y, Yoshida K, Tokuda T. Familial Transthyretin Amyloidosis. GeneReviews. Retrieved September 26, 2017 from https://www.ncbi.nlm.nih.gov/books/NBK1194/
Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet Journal of Rare Diseases. 20138:31. Retrieved from https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-31