Transthyretin amyloidosis (ATTRv) is a progressive, life-threatening, and often underdiagnosed disease caused by the deposition of toxic transthyretin (TTR) amyloid fibrils in multiple tissues and organs.
Inherited in an autosomal dominant manner, ATTRv is linked to more than 130 known TTR gene variants worldwide. These variants vary in their geographic distribution and are associated with diverse clinical presentations, including neuropathy and cardiomyopathy.
ARCHIMEDlife recently contributed to a global review evaluating the effectiveness of two no-charge genetic testing programs designed to identify TTR variants in individuals with suspected ATTRv or a family history of the disease.
The review confirmed that genetic testing plays a critical role in detecting TTR variants—both for confirming diagnoses in symptomatic individuals and for identifying asymptomatic carriers within affected families. While some barriers remain to its broader implementation, the study underscores how accessible and comprehensive genetic testing can significantly improve early diagnosis, clinical outcomes, and overall quality of life for patients with ATTRv.
Read the complete article in the Journal of Clinical Medicine.