Hereditary Amyloidosis
Hereditary amyloidosis is a genetic disorder caused by the abnormal production of proteins called amyloids, which can accumulate in various organs and tissues. This buildup can lead to organ dysfunction and a range of symptoms, including fatigue, pain, and swelling. The condition is often linked to mutations in specific genes, such as the TTR gene, which is responsible for producing transthyretin, a protein that can misfold and form amyloid deposits.
Diagnosis typically involves a combination of clinical evaluation, imaging studies, and biopsy to confirm the presence of amyloid deposits. Treatment options may include medications to stabilize the abnormal proteins, as well as supportive care to manage symptoms. In some cases, a liver transplant may be considered, as the liver is a primary source of the problematic proteins.