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Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective
Zongwei Lin1, Xinyu Zhang1, Yan Liu1
1National Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Department of Cardiology, Qilu Hospital of Shandong University, Jinan, China.
Insights
This study screened 906 patients with unexplained left ventricular hypertrophy (LVH) for Fabry disease (FD) using dried blood spot testing. A 0.88% prevalence of FD was found, highlighting the importance of screening LVH patients for this condition.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Left ventricular hypertrophy (LVH) is often detected in Fabry disease (FD), mimicking hypertrophic cardiomyopathy (HCM).
- Differentiating FD from other causes of LVH is crucial for timely and appropriate treatment.
Purpose of the Study:
- To investigate the prevalence of Fabry disease (FD) in Chinese patients presenting with unexplained left ventricular hypertrophy (LVH).
- To evaluate the utility of dried blood spot (DBS) testing for screening FD in this population.
Main Methods:
- A nationwide, multicentre prospective study screened 1015 patients with echocardiographically diagnosed LVH.
- Dried blood spot (DBS) testing was used to measure alpha-galactosidase A (α-Gal A) activity and globotriaosylsphingosine (lyso-Gb3) levels.
- Genetic confirmation of pathogenic GLA mutations was performed for individuals with abnormal biomarker levels.
Main Results:
- The study included 906 patients with LVH. A total of 8 individuals (0.88% prevalence) were genetically confirmed to have FD.
- Patients with FD showed higher rates of proteinuria, family history of HCM, and neuropathic pain compared to non-FD patients.
- Two novel potentially pathogenic GLA mutations were identified: p.Asp313Val and c.547+3A>G.
Conclusions:
- Dried blood spot (DBS) screening identified a significant prevalence of Fabry disease (FD) among Chinese patients with unexplained left ventricular hypertrophy (LVH).
- Combined measurement of α-Gal A activity and lyso-Gb3 levels is effective for primary FD screening in LVH patients.
- Early FD detection in LVH patients is clinically vital due to available therapies and benefits of cascade screening.
Aims:
Left ventricular hypertrophy (LVH) is frequently detected via echocardiography in individuals with Fabry disease (FD), sometimes leading to confusion with hypertrophic cardiomyopathy (HCM) of other aetiologies. Considering this diagnosis challenge, FD should be included in the list of differential diagnosis for patients presenting with LVH. To address this concern, we conducted a prospective screening study in China, using dried blood spot (DBS) testing, to evaluate patients with unexplained LVH.
Methods:
Our study was designed as a nationwide, multicentre prospective investigation. A total of 1015 patients from 55 different centres who were diagnosed with LVH by echocardiography were screened in the study from September 2022 to December 2023. Demographic information, biochemistry data, echocardiography parameters and clinical observations were meticulously collected from all participants. The DBS method was used to assess α-galactosidase A (α-Gal A) activity in males and both α-Gal A and globotriaosylsphingosine (lyso-Gb3) levels in females.
Results:
The final screening population included 906 patients (589 males, 65%) with LVH, characterized by a mean maximal myocardial thickness of 14.8 ± 4.6 mm and an average age of 56.9 ± 17.2 years. In total, 43 patients (38 males, 5 females) exhibited low α-Gal A activity measurement (<2.2 μmol/L), while 21 patients (10 males, 11 females) presented low α-Gal A activity or elevated lyso-Gb3 levels (>1.1 ng/mL). Among these patients, eight individuals (7 males and 1 female) were genetically confirmed to harbour pathogenic GLA mutations, resulting in a total prevalence of 0.88%. Compared with patients without FD, patients with FD tended to have proteinuria (75% vs. 21.2%, P = 0.001), family history of HCM (37.5% vs. 2.3%, P < 0.01) and neuropathic pain (37.5% vs. 4.4%, P < 0.01) but lower systolic blood pressure (118.5 ± 12.5 vs. 143.3 ± 29.3 mmHg, P = 0.017). Five mutations were previously recognized as associated with FD while the remaining two, p.Asp313Val (c.938A>T) and c.547+3A>G, were deemed potentially pathogenic. Subsequent familial validation post-diagnosis identified an additional 14 confirmed cases.
Conclusions:
This pioneering screening study for FD among Chinese patients with unexplained LVH using DBS measurement, revealed an FD detection rate of 0.88%. Our findings confirmed that the combined measurement of lyso-Gb3 and α-Gal A activity is beneficial for primary screening of FD in patients with LVH. Given the availability of efficacious therapies and the value of cascade screening in extended families, early detection of FD in LVH patients is clinically important.
