How to make a diagnosis

A presumptive clinical diagnosis of Fabry disease can be made in patients with classical manifestations of the disease.

These patients usually have multiple characteristic signs and symptoms that raise suspicion of Fabry disease, such as cornea verticillata, angiokeratoma, history of pain crises, and anhidrosis/hypohidrosis. A targeted patient medical history and family history should be sought to support a presumptive clinical diagnosis.1

Confirmation of diagnosis using biochemical and/or genetic testing is always required when there is clinical suspicion of Fabry disease, or in patients with a family history of Fabry disease regardless of their symptomology.2

Diagnostic Pathways

Diagnostic Pathways

The diagnostic pathway for Fabry disease differs depending on gender and disease presentation.

Diagnosis Algorithms

Diagnosis Algorithms

Diagnosis of Fabry disease is challenging. Diagnostic algorithms have been developed to assist diagnosis in patients with certain signs or symptoms of Fabry disease.

References

  1. 1.Laney DA, Bennett RL, Clarke V, et al. (2013) Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns 22(5): 555-564.
  1. 2.Germain DP. (2010) Fabry disease. Orphanet J Rare Dis 5: 30.