Hereditary transthyretin (hATTR) amyloidosis is a rare genetic disorder caused by mutations in the transthyretin (TTR) gene, leading to the abnormal production of TTR protein. This results in the formation of amyloid deposits that can accumulate in various organs, including the heart, nerves, and kidneys, causing a wide range of debilitating symptoms such as neuropathy, heart failure, and gastrointestinal issues. Advances in hereditary transthyretin medicine have paved the way for innovative treatment options, including gene silencing therapies and stabilizers that prevent the formation of amyloid proteins. These breakthroughs are transforming patient care, allowing for earlier diagnosis and more effective management strategies. Ongoing research continues to explore new therapeutic avenues, enhancing understanding of hATTR and aiming to improve outcomes for those affected by this complex disorder.
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