Appalachian Type Familial Amyloid Polyneuropathy (AT-FAP) is a rare genetic disorder characterized by the accumulation of abnormal proteins called amyloids in various organs and tissues of the body. Specifically, this condition affects the peripheral nerves, leading to a progressive and debilitating peripheral neuropathy.
Individuals with AT-FAP often experience symptoms such as weakness, numbness, and tingling in the limbs, particularly the arms and legs. This neuropathy usually begins in adulthood, usually between the ages of 20 and 40, and gradually worsens over time. Alongside the peripheral neuropathy, individuals may also develop other symptoms, including gastrointestinal disturbances, heart problems, and kidney abnormalities.
AT-FAP is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. It is caused by mutations in the gene encoding the protein transthyretin (TTR) and is particularly prevalent in certain Appalachian regions of the United States.
The diagnosis of AT-FAP involves a combination of clinical evaluation, genetic testing, and specialized imaging techniques. Treatment options for AT-FAP are limited, and mainly focus on symptom management and supportive care. In some cases, liver transplantation may be considered to reduce the production of abnormal TTR protein.
Due to its rarity and the progressive nature of the condition, AT-FAP requires multidisciplinary medical management and ongoing support to improve the quality of life for affected individuals and their families.
