Screening, diagnosis and management of patients with Fabry disease: Conclusions from a KDIGO Controversies Conference
Kidney Int 2017; 91:284-293
- The diagnosis is established in males by a-galactosidase A–specific activity below 25-30% of control in peripheral white blood cells.
- There is a wide phenotypic variability even among patients with the same GLA mutation.
- FD should be considered and tested in patients with chronic kidney disease (CKD) with no definitive cause of nephropathy, especially in familial cases.
- Common standard-of-care therapies are highly effective in alleviating symptoms and treating disease complications. There is no scientific evidence as to the optimal age of enzyme replacement therapy (ERT) initiation.
- Development of signs or symptoms related to FD is an indication to start ERT. For the kidney, this implies the development of CKD. The benefits of early treatment, before irreversible tissue injury occurs, should be balanced against the burden of biweekly infusions in very young individuals. There is a suggestion that ERT slows the progression of kidney involvement and results in reduction of hypertrophic cardiomyopathy, especially when started prior to established fibrosis. However, there is no reduction in the rate of stroke with ERT.
Comments by Evaluators:
- Authors are key opinion leaders; no external reviewers available due to large number of authors.