Type III Familial Amyloid Polyneuropathy (also known as transthyretin-related familial amyloid polyneuropathy or ATTR-FAP) is a rare, hereditary disorder that belongs to a group of diseases called amyloidoses. It is characterized by the abnormal buildup of a protein called transthyretin (TTR) in various organs and tissues throughout the body.
In Type III Familial Amyloid Polyneuropathy, the primary affected tissues are the peripheral nerves, which are responsible for transmitting signals between the central nervous system and the rest of the body. The accumulation of TTR protein deposits leads to the disruption of nerve cell functions, causing progressive nerve damage and subsequent symptoms.
Individuals with Type III Familial Amyloid Polyneuropathy usually experience sensory disturbances, such as tingling, numbness, and pain in their limbs. As the disease progresses, these symptoms may worsen and spread to other body parts, leading to muscle weakness, loss of reflexes, and difficulties in coordination and balance. Additionally, autonomic nervous system dysfunction can manifest, resulting in digestive problems, heart abnormalities, and sexual dysfunction.
Type III Familial Amyloid Polyneuropathy is caused by specific mutations in the TTR gene, which instructs the production of transthyretin protein. The mutated protein is less stable and more prone to forming abnormal deposits known as amyloid fibrils. The age of onset, severity, and progression of the disorder can vary depending on the specific mutation.
While there is currently no cure for Type III Familial Amyloid Polyneuropathy, treatments are available to manage the symptoms and slow down the disease progression. These may include liver transplantation, medication to stabilize the TTR protein, or clinical
