Hereditary transthyretin-mediated amyloidosis (hATTR) is a rare, progressive genetic disorder caused by mutations in the transthyretin (TTR) gene, leading to the accumulation of amyloid proteins in various organs, particularly the heart, nerves, and kidneys. This accumulation can result in a range of debilitating symptoms, including neuropathy, cardiomyopathy, and gastrointestinal issues. Historically, hATTR was often misdiagnosed or underdiagnosed, but recent advancements in medicine have transformed the landscape of treatment. Emerging therapies, including gene silencing and stabilizing agents, target the underlying mechanisms of the disease, offering hope for improved outcomes and quality of life for patients. Ongoing research is focused on further understanding the disease’s pathophysiology and developing innovative treatments, marking a significant shift in the management of this challenging condition.
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