Type I Familial Amyloid Polyneuropathy (FAP) is a rare, inherited neurodegenerative disorder characterized by the buildup and deposition of abnormal protein fragments called amyloid fibrils in various tissues throughout the body, particularly in the peripheral nerves. This progressive condition primarily affects the peripheral nervous system, leading to a range of symptoms such as numbness, tingling, weakness, and pain in the limbs.
FAP is classified as Type I based on the specific genetic mutation associated with the disease. It is caused by a mutation in the transthyretin (TTR) gene, which leads to the production of misfolded TTR protein. These misfolded proteins accumulate in various tissues and organs, disrupting their normal structure and function. As a result, the peripheral nerves, heart, kidneys, and gastrointestinal tract are especially affected in Type I FAP.
The clinical manifestations of Type I FAP often begin in adulthood, typically between 20 and 40 years of age, but there can be considerable variability in the age of onset and progression of symptoms. Without intervention, the disease usually leads to significant disability and can be fatal, primarily due to cardiac complications.
Early diagnosis of Type I FAP is crucial for implementing appropriate treatment strategies aimed at reducing the production or uptake of mutant TTR protein and managing associated symptoms. Treatment options may include liver transplantation, TTR stabilizers, and gene silencing therapies. Additionally, supportive care approaches such as physical therapy, pain management, and cardiac monitoring are important to maintain the individual's quality of life.
