Work

Multisystemic manifestations of a rare Glu89Lys (p. Glu109Lys) transthyretin amyloidosis: a case report of an East Asian female

Year: 2025

Type: article

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.

Source: BMC Neurology

DOI: 10.1186/s12883-025-04392-1

Authors: Linhuan Huang, Houshi Zhou, Junling Chen, Ting Fang, Qi Lin

Institution: Shantou Central Hospital

Language: English

Topic: Amyloidosis: Diagnosis, Treatment, Outcomes

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,090