Fabry Disease Case Finding Studies in High-Risk Populations

Because Fabry disease is medically important and effective interventions exist, an early diagnosis in symptomatic individuals would be desirable. However, the diagnosis is often delayed for several years after first symptoms have developed. One approach to overcome this clinical deficit is case finding studies among people with medical problems typically found in Fabry disease patients. During the last decade such studies revealed a surprising high prevalence of Fabry disease among patients with chronic kidney disease, heart disease, or stroke. Because specific treatment is available, several experts endorsed case finding studies in high risk populations within an organized frame or even routine testing of individuals with stroke, kidney- or heart disease. The methodologies recommended for case finding strategies include testing for enzyme activity in dried blood spots or examination of urine specimen for increased excretion of globotriaosylceramide. Together with newborn screening the results of large case finding studies among patients with stroke, left ventricular hypertrophy, or chronic kidney disease will allow for a better approximation of the true prevalence of the disease and will probably result in an improvement of clinical care of affected individuals.