Hereditary ATTR amyloidosis is a genetic disorder caused by mutations in the transthyretin (TTR) gene, leading to the production of unstable TTR proteins that misfold and form amyloid deposits in various organs and tissues. The condition presents with a range of symptoms depending on the specific TTR mutation and the organs affected, including cardiomyopathy, peripheral neuropathy, and autonomic neuropathy. Diagnosis typically involves genetic testing, imaging, and biopsies to confirm the presence of amyloid deposits and assess organ involvement. Early diagnosis is crucial to manage symptoms and prevent irreversible damage.

Treatment options for hereditary ATTR amyloidosis have evolved from liver transplants to include various FDA-approved drugs that either stabilize the TTR protein or block its production through gene silencing. Stabilizers like Diflunisal and Tafamidis aim to prevent amyloid formation, while gene silencers such as Patisiran and Inotersen stop TTR production. Although no drugs are currently approved for removing existing amyloid deposits, clinical trials are ongoing. Supportive treatments also play a critical role in improving patients’ quality of life, with treatment decisions tailored to individual health factors and the extent of organ damage.

Reference: Hereditary ATTR (hATTR) amyloidosis is passed down through families. Amyloidosis Research Consortium. Accessed August 29, 2024. https://arci.org/about-amyloidosis/hereditary-attr-amyloidosis/