British Type Amyloid Polyneuropathy, also known as familial amyloid polyneuropathy, transthyretin amyloidosis, or ATTRV30M amyloidosis, is a rare hereditary disorder characterized by the abnormal accumulation of a specific protein called transthyretin (TTR) in various tissues and organs throughout the body. This autosomal dominant genetic condition primarily affects the peripheral nerves, leading to a progressive degeneration and dysfunction of the peripheral nervous system.
The accumulation of TTR amyloid deposits in the peripheral nerves causes damage and disrupts the normal functioning of these nerves. This, in turn, leads to a variety of symptoms, including sensory disturbances, weakness, pain, and autonomic dysfunction. The disease typically begins in the lower limbs and gradually progresses to involve other parts of the body, such as the upper limbs and organs like the heart, kidneys, and gastrointestinal tract.
British Type Amyloid Polyneuropathy is often characterized by an early onset, usually during the third to fifth decade of life, and symptoms tend to worsen over time. It is primarily found in individuals of British descent and is associated with a specific genetic mutation in the transthyretin gene.
The diagnosis of British Type Amyloid Polyneuropathy involves a combination of clinical assessment, genetic testing, and histological examination to confirm the presence of TTR amyloid deposits in affected tissues. Although there is currently no cure for this condition, various treatment approaches are available to manage symptoms and slow down disease progression, including liver transplantation, stabilizer drugs, and supportive care.
Overall, British Type Amyloid Polyneuropathy is a rare hereditary disorder characterized by the abnormal accumulation of transthyretin protein in peripheral nerves, leading to progressive peripheral
