Abstract
BACKGROUND: Transthyretin amyloidosis (ATTRv) presents with highly variable, multisystem phenotypes, complicating diagnosis. CASE PRESENTATION: We describe a diagnostically challenging case of ATTRv caused by the rare Glu89Lys (p. Glu109Lys) variant in an East Asian female-the first reported instance in this ethnic group. The patient exhibited a complex multisystem phenotype spanning progressive axonal sensorimotor polyneuropathy with autonomic dysfunction, cerebral infarction, hypertrophic cardiomyopathy, vitreous opacities, and unexplained cachexia, culminating in a 4-year diagnostic odyssey. The lack of clinical suspicion delayed definitive diagnosis, ultimately achieved through combined tissue biopsy confirming amyloid deposits and targeted genetic sequencing confirming Glu89Lys variant. CONCLUSION: Our findings highlight the imperative for heightened clinical vigilance and early utilization of multimodal diagnostic strategies in suspected ATTRv cases.