Heart failure & cardiomyopathies
Screening for Fabry Disease in Patients with Left Ventricular Hypertrophy in China: A Multicentre and Prospective Study
Authors' conclusion
This pioneering screening study for FD among Chinese patients with unexplained LVH using DBS measurement, revealed an FD detection rate of 0.88%.
Study context
- Population
- Patients with unexplained left ventricular hypertrophy (LVH) by echocardiography, China, Sept 2022–Dec 2023906 in final screening population
- Participants
- 1,015 patients
- Exposure
- Fabry disease (FD) vs Without FD
- FDn = 8
- Outcome
- Prevalence of FD (DBS screening of α-Gal A activity, plus lyso-Gb3 in females, with genetic confirmation)
Methodological detailsnationwide, multicentre, 55 centres
- Nationwide
- Multicentre
- 55 centres
Main finding
As reported in the abstract
FD prevalence
Genetically confirmed FD (7 males, 1 female)
8
Total prevalence
0.88%
Observational data: associations, not effects.
Further findings
Clinical features, FD vs without FD
Proteinuria
P = 0.001
Family history of HCM
P < 0.01
Neuropathic pain
P < 0.01
SBP FD 118.5 ± 12.5 mmHg · Without FD 143.3 ± 29.3 mmHg · P = 0.017
Dried blood spot (DBS) screening results
- Low α-Gal A activity (<2.2 μmol/L) (38 males, 5 females)
- 43
- Low α-Gal A activity or elevated lyso-Gb3 (>1.1 ng/mL) (10 males, 11 females)
- 21
Cascade familial screening · post-diagnosis
- Additional confirmed cases
- 14
Original publication
Screening for Fabry Disease in Patients with Left Ventricular Hypertrophy in China: A Multicentre and Prospective Study. ESC Heart Fail. Published 3 September 2024. doi:10.
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