Familial Amyloid Polyneuropathy
Familial Amyloid Polyneuropathy (FAP) is a genetic disorder caused by the accumulation of amyloid proteins in the peripheral nerves. This buildup disrupts normal nerve function, leading to symptoms such as pain, numbness, and weakness, primarily in the hands and feet. FAP is often inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene from an affected parent can cause the disease.
The condition is most commonly associated with mutations in the transthyretin (TTR) gene. Diagnosis typically involves a combination of clinical evaluation, family history, and specialized tests to detect amyloid deposits. Early detection and management are crucial to slowing disease progression and improving quality of life.