Diagnosis and therapy of Gaucher's disease: Current recommendations of theGerman treatment centers in the year 2000

Background: Gaucher's disease is the autosomally recessively inherited defi ciency of the lysosomal enzyme glucocerebrosidase. Increasing storage of gl ucocerebrosides leads to a multisystem disease, the prevalence of which is about 1 : 40,000 in central Europe and up to 1 : 2,000 in some other countr ies (e. g. Israel). The acute and chronic neuronopathic forms of the diseas e (formerly defined as Gaucher types 3 and 3) account for only 5 to 10% of all Gaucher patients in Central Europe and Germany and are thus less freque nt than the non-neuronopathic disease (formerly defined as Gaucher type 1). Gaucher's disease is usually associated with spleno- and hepatomegaly, fat igue, skeletal complications, and several corresponding hematological and l aboratory abnormalities. In 5 to 10% of the patients there are also central nervous symptoms such as myoclonic seizures, oculomotoric apraxia and a sl ight mental retardation. Methods: Four specialized centers care for more than 2/3 of all German Gauc her patients today. These centers present their consensus recommendations f or state-of-the- art diagnosis and treatment of Gaucher's disease. Results: Recent epidemiological data indicate that only 10 to 20% of all Ga ucher patients are correctly diagnosed (and treated) in Germany. The diagno sis today can be done in all patients by noninvasive methods, i.e. determin ation of the glucocerebrosidase activity in peripheral leukocytes and of th e genetic defect. The current enzyme replacement therapy with glucocerebros idase has proven effective to improve and often normalize hematological abn ormalities, hepatosplenomegaly, skeletal complications and quality of life, provided that the therapy is started early and is given at adequate dosage s. Conclusion: In view of the availability of an effective therapy, efforts sh ould be made to increase the awareness of Gaucher's disease in differential diagnosis, to help to diagnose the disease with noninvasive techniques at early stages, and to provide practical guidelines for adequate treatment.