Hereditary Transthyretin Amyloidosis
Hereditary Transthyretin Amyloidosis (hATTR) is a genetic disorder caused by mutations in the transthyretin (TTR) gene. This condition leads to the production of abnormal proteins that can accumulate in various tissues and organs, disrupting their normal function. Commonly affected areas include the heart, nerves, and kidneys.
Symptoms of hATTR can vary widely but often include peripheral neuropathy, heart problems, and gastrointestinal issues. Diagnosis typically involves genetic testing and tissue biopsies to confirm the presence of amyloid deposits. Early detection and treatment are crucial for managing the disease and improving quality of life.