Tan, Siew Yin and Tan, Cheng Yin and Yahya, Mohd Azly and Low, Soon Chai and Shahrizaila, Nortina and Goh, Khean Jin (2024) Quantitative muscle ultrasound as a disease biomarker in hereditary transthyretin amyloidosis with polyneuropathy. Neurological Sciences, 45 (7). pp. 3449-3459. ISSN 1590-1874, DOI https://doi.org/10.1007/s10072-024-07340-y.
Full text not available from this repository.Abstract
Introduction There is an increasing need for a reproducible and sensitive outcome measure in patients with hereditary transthyretin amyloidosis (ATTRv) with polyneuropathy (PN) due to the emergence of disease modifying therapies. In the current study, we aimed to investigate the role of quantitative muscle ultrasound (QMUS) as a disease biomarker in ATTRv-PN.Methods Twenty genetically confirmed ATTRv amyloidosis patients (nine symptomatic, 11 pre-symptomatic) were enrolled prospectively between January to March 2023. Muscle ultrasound was performed on six muscles at standardized locations. QMUS parameters included muscle thickness (MT) and muscle echo intensity (EI). Twenty-five age- and sex-matched healthy controls were recruited for comparison. Significant QMUS parameters were correlated with clinical outcome measures.Results Muscle volume of first dorsal interosseus (FDI) muscle measured as cross-sectional area (CSA)] was significantly lower in symptomatic patients compared to healthy controls and pre-symptomatic carriers (98.3 +/- 58.0 vs. 184.4 +/- 42.5 vs. 198.3 +/- 56.8, p < 0.001). EI of biceps and FDI for symptomatic ATTRv-PN patients were significantly higher compared to the other two groups (biceps: 76.4 +/- 10.8 vs. 63.2 +/- 11.5 vs. 59.2 +/- 9.0, p = 0.002; FDI: 48.2 +/- 7.5 vs. 38.8 +/- 7.5 vs. 33.0 +/- 5.3, p < 0.001). CSA of FDI and EI of biceps and FDI correlated with previous validated outcome measures polyneuropathy disability score, neuropathy impairment score, Karnofsky performance scale, Rasch-built overall disability scale, European quality of life (QoL)-5 dimensions and Norfolk QoL questionnaire-diabetic neuropathy].Conclusion QMUS revealed significant difference between ATTRv amyloidosis patients and healthy controls and showed strong correlation with clinical outcome measures. QMUS serves as a sensitive and reliable biomarker of disease severity in ATTRv-PN.
| Item Type: | Article |
|---|---|
| Funders: | UNSPECIFIED |
| Uncontrolled Keywords: | Amyloidosis; Hereditary transthyretin amyloidosis; Muscle ultrasound; Neuromuscular ultrasound; Ultrasound |
| Subjects: | R Medicine > R Medicine (General) |
| Divisions: | Faculty of Medicine > Medicine Department Universiti Malaya Medical Centre (UMMC) |
| Depositing User: | Ms. Juhaida Abd Rahim |
| Date Deposited: | 11 Nov 2024 06:19 |
| Last Modified: | 11 Nov 2024 06:19 |
| URI: | http://eprints.um.edu.my/id/eprint/45740 |
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