Jewish Type Familial Amyloid Polyneuropathy, also known as ATTRv (transthyretin amyloidosis familial variant) is a rare inherited disorder characterized by the buildup of abnormal protein deposits, called amyloid fibrils, in various organs of the body. This condition specifically affects individuals of Ashkenazi Jewish descent.
Amyloidosis refers to a group of diseases where abnormal proteins, such as transthyretin (TTR), accumulate and form amyloid deposits in organs and tissues. In Jewish Type Familial Amyloid Polyneuropathy, the TTR protein is mutated and causes progressive nerve damage, particularly in the peripheral nervous system.
Polyneuropathy refers to the involvement of multiple nerves, leading to symptoms such as numbness, tingling, weakness, or pain in the extremities. As the disease progresses, it may affect other systems, including the heart, kidneys, and gastrointestinal tract.
Jewish Type Familial Amyloid Polyneuropathy is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing on the mutated gene to each of their children. The specific mutation causing this variant of amyloidosis is more commonly found within the Ashkenazi Jewish population.
There is currently no cure for Jewish Type Familial Amyloid Polyneuropathy, but treatment focuses on managing symptoms and slowing disease progression. This may involve medications to stabilize or suppress the production of abnormal TTR protein, liver transplantation to replace the source of the mutated protein, or supportive measures to address organ involvement and improve quality of life. Genetic counseling and testing are crucial for individuals with a family history of this condition to assess the risk of inheritance and inform reproductive choices.
