About Fabry disease
Diagnosis of Fabry disease
Diagnostic delay in Fabry disease is common – it is estimated that patients visit an average of ten different specialists before a Fabry disease diagnosis is confirmed, leading to a delay of around 15 years from symptom onset.1,2
Adapted from Wilcox et al 2008.2
Diagnostic delay
Reasons for such diagnostic delays include:3
Genotype alone does not determine disease progression in Fabry disease – the aetiology is complex, and there is great variability in the manifestation and progression of disease. As such, in male patients, assessment of α-Gal A activity is used to diagnose Fabry disease. Although, gene testing is used to confirm suspicion in female patients.1
Click on the headings to learn more about the methods used to diagnose Fabry disease
- Confirmation of reduced α-Gal A enzyme activity (in circulating leucocytes)
- Molecular testing (genotyping)
- Plasma GL-3/Lyso-Gb3 levels (accumulated substrate)
- Molecular testing (genotyping)
- Plasma GL-3/Lyso-Gb3 levels (accumulated substrate)
Enzyme analysis may occasionally help to detect female heterozygotes but is often inconclusive. Therefore, genotyping of female patients is mandatory.3 With genetic testing, it is vital to consider the implications of a diagnosis not just on the patient but also their wider family. The Royal College of Physicians has issued guidance for those working in this field to help ensure patients give valid consent. The full guidance (PDF) can be accessed here.
NP-NN-UKI-00051024
October 2024
- Rozenfeld PA. Fabry disease: treatment and diagnosis. Life. 2009;61:1043–1050.
- Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008;93:112–128.
- Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
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Clinical manifestations of Fabry disease
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Management of Fabry disease
