Morbus Fabry: Demografische Übersicht seit Einführung der Enzymersatztherapie

Abstract

Fabry's disease is a rare, X-chromosome linked recessive lysosomal storage disorder. In its course multiple organ damage occurs, e.g. in skin, nerves, kidneys and heart. The disease not only markedly impairs the quality of life but also shortens life expectancy if untreated. As it is a rare and not widely known disease with considerable variability of its symptoms it is often not or only belatedly diagnosed. Since 2001, enzyme replacement has become available as an option in the causal treatment. It was the aim of this study to analyse the demography and clinical expression of the disease. Data were obtained from the Fabry Outcome Survey (FOS), a Europe-wide data bank for the documentation of the disease's clinical course, on 262 patients (130 males, 132 females; mean age 37.5 and 34 years, respectively on entry in the FOS) in Germany, Switzerland and Austria. Typical symptoms - acroparesthesias, joint pain, hypohidrosis, fever and angiokeratoma - have their onset in childhood (mean age nine years). Symptoms start significantly earlier in males than females. The interval between onset of the first symptoms and establishment of the diagnosis is about 15 years. The severity of the clinical picture, as measured in the POS Mainz severity score index (MSSI), correlates significantly with the person's age (p = 0.0001). Main causes of morbidity and death in Fabry's disease are involvement of the kidneys or heart, the one or other occurring in 75% of patients. 171 patients (38 [65.3%]: 92 males, 79 females) are at present being continually treated with enzyme-replacement (ERT), agalsidase-a, i.e. 70.8% of all male and 59.8 of all female patients in the FOS. It is of great importance for the prognosis and quality that Fabry's disease is diagnosed as early as possible and treated adequately before the onset of organ damage. If the listed symptoms by themselves remain unexplained, Fabry's disease should be considered in the differential diagnosis. National and international observational studies, such as the FOS, significantly contribute to gaining important clinical data on this heterogeneous disease.