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. Early diagnosis is crucial for effective management, which may involve medications, lifestyle changes, or in some cases, organ transplantation. Genetic counseling is also recommended for affected families.