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תובנה - Hereditary Transthyretin Amyloidosis
Hereditary Transthyretin Amyloidosis: Challenges, Advancements, and Improving Patient Outcomes
Hereditary transthyretin amyloidosis is a complex, progressive, and potentially fatal genetic disorder caused by mutations in the TTR gene, leading to the accumulation of amyloid deposits in various organs, with significant impact on patient quality of life. However, recent advancements in diagnostic approaches and therapeutic options provide new hope for improved management and outcomes.
Comprehensive Overview of Hereditary Transthyretin Amyloidosis: Symptoms, Diagnosis, and Emerging Treatments
Hereditary transthyretin (ATTR) amyloidosis is a life-threatening autosomal dominant disease caused by misfolded transthyretin protein deposition, leading to neuropathy and cardiomyopathy. Early diagnosis and genetic testing are crucial, as new treatments targeting protein misfolding and gene silencing have shown promising results.
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