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Plasma Globotriaosylsphingosine Level as a Primary Screening Target for Fabry Disease in Patients With Left
Satoshi Yamashita1, Masao Saotome1, Hiroshi Satoh1
1Hamamatsu Circulation Forum.
Insights
Screening for Fabry disease (FD) in unexplained left ventricular hypertrophy (LVH) patients is improved by measuring plasma globotriaosylsphingosine (lyso-Gb3) and α-galactosidase A activity (α-GAL). This combined approach enhances diagnostic accuracy for FD in this patient population.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Fabry disease (FD) is suspected in patients with left ventricular hypertrophy (LVH), but its diagnosis is challenging due to diverse clinical presentations.
- Previous studies indicate a notable prevalence of FD within the LVH patient cohort.
- Effective screening strategies for FD in LVH patients are crucial.
Purpose of the Study:
- To evaluate the effectiveness of combined plasma globotriaosylsphingosine (lyso-Gb3) concentration and α-galactosidase A activity (α-GAL) measurements for primary FD screening.
- To assess the utility of these biomarkers in identifying FD in patients with unexplained LVH.
Main Methods:
- A cohort of 277 consecutive patients with left ventricular wall thickness >12 mm on echocardiogram underwent measurement of plasma lyso-Gb3 and α-GAL activity.
- Screening positive cases were further investigated for definitive FD diagnosis.
- Diagnostic confirmation involved genetic analysis and endomyocardial biopsy where necessary.
Main Results:
- Out of 277 patients, 5 (1.8%) screened positive: 2 (0.7%) had elevated lyso-Gb3 and 4 (1.4%) had reduced α-GAL levels.
- Two patients (0.7%) were ultimately diagnosed with clinically significant FD.
- One female heterozygote with normal α-GAL and a male patient on hemodialysis with a p.R112H mutation were diagnosed with FD, both exhibiting high lyso-Gb3 levels.
Conclusions:
- Elevated serum lyso-Gb3 levels are indicative of clinically significant Fabry disease.
- The combined assessment of lyso-Gb3 and α-GAL activity offers improved screening efficacy for FD in patients presenting with unexplained LVH.
- This diagnostic strategy aids in the early identification of FD in a challenging patient group.
Background:
Although previous studies have suggested a certain prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) patients, the screening of FD is difficult because of its wide-ranging clinical phenotypes. We aimed to clarify the utility of combined measurement of plasma globotriaosylsphingosine (lyso-Gb3) concentration and α-galactosidase A activity (α-GAL) as a primary screening of FD in unexplained LVH patients.
Methods And Results:
Between 2014 and 2016, both lyso-Gb3 and α-GAL were measured in 277 consecutive patients (male 215, female 62, age 25-79 years) with left ventricular wall thickness >12 mm on echocardiogram: 5 patients (1.8%) screened positive (2 (0.7%) showed high lyso-Gb3 and 4 (1.4%) had low α-GAL levels). Finally, 2 patients (0.7%) were diagnosed with clinically significant FD. In 1 case, a female heterozygote with normal α-GAL levels had genetic variants of unknown significance and was diagnosed as FD by endomyocardial biopsy. The other case was a male chronic renal failure patient requiring hemodialysis, and he had a p.R112H mutation. In both cases there were high lyso-Gb3 levels.
Conclusions:
The serum lyso-Gb3 level can be relevant for clinically significant FD, and combined measurement of lyso-Gb3 and α-GAL can provide better screening of FD in unexplained LVH patients.
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