Fabry disease is a complex, multisystemic disorder with a broad range of signs and symptoms. Fabry disease should therefore be considered in the differential diagnosis of many systemic diseases.1 A diagnosis of Fabry disease can be delayed for many years (see misdiagnosis of Fabry disease), because the early disease indicators are often non-specific and there is limited awareness of the disease among clinicians. One of the major challenges in making a correct and timely diagnosis of Fabry disease is its lack of inclusion in a clinician’s differential diagnosis, particularly in young patients (see getting the diagnosis right).2

Genetic testing should be used to confirm a diagnosis of Fabry disease in females and to support a diagnosis in males.3-5 The alpha-galactosidase A (α-Gal A) enzyme assay can be used to diagnose Fabry disease in male patients.3-6 In addition, globotriaosylsphingosine (lyso-Gb3) is considered a useful diagnostic biomarker in some patients with Fabry disease,7-9 and clinical indicators can be used to assess the extent of organ involvement.10 A number of disease severity indexes are also available to assess the severity of Fabry disease.11-15

Once a patient has been diagnosed with Fabry disease, a thorough pedigree analysis is recommended to be performed to identify any family members at risk of the disease.16,17 Family screening for Fabry disease may also identify patients who are at risk of having children with the disease (see prenatal and newborn screening).18


C-ANPROM/INT/FAB/0016; Date of preparation: March 2021