Testing and Diagnosis

In this section, learn about the tests that are used to diagnose individuals suspected to have Fabry disease.

Diagnosis of Fabry disease is often delayed and patients usually visit several medical specialists before a correct diagnosis is made.1 Recent data suggests that the overall diagnostic delay for patients with Fabry disease is around 15 years.1

Fabry disease diagnosis in males and females from the global Fabry Registry
 

Adapted from: Wilox WR et al. Mol Genet Metab 2008; 93:112-28. 
† Years patients experience symptoms before diagnosis of Fabry disease

Prompt diagnosis of Fabry disease is important as specific treatment is available with enzyme replacement therapy (ERT). The greatest benefit of treatment may be seen when ERT is initiated early, before irreversible damage occurs.2

In patients with suspected Fabry disease, biochemical and/or genetic testing is required to confirm diagnosis.1

Testing & Screening

Testing & Screening

Definitive diagnosis of Fabry disease always requires biochemical and/or genetic testing.

How to make a diagnosis

How to make a diagnosis

A presumptive clinical diagnosis of Fabry disease can be made in patients with classical manifestations of the disease. Biochemical and/or genetic tests confirm diagnosis.

References

  1. 1.Germain DP. (2010) Fabry disease. Orphanet J Rare Dis 5: 30.
  1. 2.Banikazemi M, Bultas J, Waldek S, et al. (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146(2): 77-86.