Morbus gaucher, mukopolysaccharidose typ I (Scheie) und morbus Fabry. Spezifisch therapierbare lysosomale speicherkrankheiten und wichtige differenzialdiagnosen zu entzündlich-rheumatischen erkrankungen

Abstract

Enzyme replacement therapies with the potential to improve prognosis are available for the lysosomal storage disorders Gaucher disease, mucopolysaccharidosis type I (MPS I-S; Scheie disease) and Fabry disease. Differential diagnosis is required to exclude a number of other conditions, including some rheumatic diseases. The bone pain associated with Gaucher disease can be misdiagnosed as juvenile idiopathic arthritis (JIA), and hepatosplenomegaly and pancytopenia may suggest collagen disorders. Symptoms such as contractures of the finger joints caused by Scheie disease can also imitate JIA. Fabry disease can also be confused with systemic JIA, collagen or vascular disorders, because of the pain it causes in hands and feet, sometimes associated with fever episodes, and renal and cerebrovascular symptoms. Critical evaluation of the clinical symptoms of lysosomal storage disorders in association with laboratory and test results should allow diagnosis of these diseases at an early stage, thereby facilitating better treatment and avoiding their misdiagnosis as any of several rheumatic diseases. © Springer Medizin Verlag 2006.