Ongoing Monitoring of Fabry Disease

Fabry disease affects multiple organ systems independently such that there is no predictable combination or order of organ involvement.1

Progression of cardiac disease may predominate in some patients, whereas in other patients it may be the renal or cerebrovascular systems that are most severely affected.2

Thus it is essential that all relevant organ systems are assessed, treated, and monitored individually in patients with Fabry disease.1

Annual evaluation should include routine haematology, chemistry, and urinary protein and creatinine clearance tests, as well as electrocardiogram, echocardiography and magnetic resonance imaging of the brain, heart and kidney to document disease severity and to assess effect of therapy.

Other recommended evaluations include audiologic assessment, ophthalmologic examination, pulmonary function testing, and assessment for depression.

Continuous monitoring for the appearance of symptoms in asymptomatic heterozygous females is important as most develop clinical manifestations to some extent.3


  1. 1.Eng CM, Germain DP, Banikazemi M, et al. (2006) Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 8(9): 539-548.
  2. 2.Zarate YA, Hopkin RJ. (2008) Fabry's disease. Lancet 372(9647): 1427-1435.
  1. 3.Laney DA, Fernhoff PM. (2008) Diagnosis of Fabry disease via analysis of family history. J Genet Couns 17(1): 79-83.