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Systemic mast cell activation disease (MCAD) is an epigenetic and genetic disease entity with a very pronounced clinical symptomatology in a variety of clinical manifestations in potentially every organ and tissue due to inappropriate release of mast cell mediators accompanied with the accumulation of both morphologically normal and mutated mast cells. Due to the prevalence of the disease of 17% in Germany, gastroenterologists and endoscopists are often unknowingly faced with MCAD in everyday clinical practice. In addition, gastroenterological examinations are an essential part of the diagnosis of MCAD. It is therefore essential for every physician working in gastroenterology to possess basic knowledge of this disease and, in particular, to be informed about its problems in the field of gastroenterology. This overview summarizes the current state of knowledge on the causes, diagnosis and treatment of the highly complex MCAD, focusing on the gastroenterological aspects., Competing Interests: Gerhard J. Molderings ist Miteigentümer des Start-up-Unternehmens Mast Cell Sciences UG. Die anderen Autoren eklären keine Interessenkonflikte., (Thieme. All rights reserved.)

Type-1 Gaucher's disease represents the most common lysosomal storage disorder. With the introduction of enzyme replacement therapy, many of the clinical manifestations can be controlled. The functional deficiency of the lysosomal beta-glucocerebrosidase leads to deposition of glycosylceramide in the liver, spleen, and bone marrow. We report the clinical and pathologic presentation of a patient with a florid type-1 Gaucher's disease who received long-term enzyme replacement therapy, which led to marked clinical improvement. A repeat liver biopsy performed at the time of a cholecystectomy several years after initiation of enzyme replacement therapy revealed complete resolution of Gaucher cells.