Familial transthyretin amyloidosis
Other Names for this Disease
- Amyloidosis Transthyretin related
- Amyloidosis, hereditary, transthyretin-related
- Familial amyloid polyneuropathy
- Transthyretin amyloid neuropathy
- Transthyretin amyloid polyneuropathy
Familial transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. Amyloid deposits in the nerves of the peripheral nervous system result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system (which controls involuntary body functions such as blood pressure, heart rate, and digestion) as well as the central nervous system (brain and spinal cord) may also be affected. Other areas of the body affected include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms develop varies widely among affected individuals, and may be between ages 20 and 70 years. Mutations in the TTR gene cause the condition. Although it is inherited in an autosomal dominant pattern, not all people who have a TTR gene mutation will develop familial transthyretin amyloidosis.
There are three major forms of familial transthyretin amyloidosis, which are distinguished by their symptoms and the body systems they affect. The neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions. The leptomeningeal form of transthyretin amyloidosis primarily affects the central nervous system. The cardiac form of transthyretin amyloidosis affects the heart. To read more about the different forms of familial transthyretin amyloidosis, click here.
- Transthyretin amyloidosis. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis. Accessed 7/15/2010.
- Genetics Home Reference (GHR) contains information on Familial transthyretin amyloidosis. This website is maintained by the National Library of Medicine.
In Depth Information
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- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Familial transthyretin amyloidosis. Click on the link to go to OMIM and review these resources.
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