How Does Gaucher Disease Present?

Discussion Gaucher disease (GD) was first described by Philippe Gaucher in 1882. It was the first lysosomal storage disease (LSD) described and is the comparison prototype for many variations and their treatment. There are about 50 LSD and more well-known ones include Fabry, Niemann-Pick and Pompe diseases. LSDs currently have more than 300 different enzymes or membrane proteins affected which cause central nervous system and visceral disease. Overall the frequency of LSDs in aggregate is 1:3000 – 7000 live births. GD has an estimated prevalence of 1:57,000 – 111,000. It is higher within the Ashkenazi Jewish population (~1:850). GD is an autosomal recessive disease whose main enzyme defect is acid β-glucosidase which causes accumulation of glucosylceramide, an indigestible lipid. This occurs in macrophage-lineage organs. Activated macrophages also affect a number of inflammatory pathways. Therefore organ systems are affected by lipid accumulation but also inflammation. Primary systems affected are the liver, spleen, bone marrow, lungs and central nervous system but other systems are also affected depending on the phenotype. Learning Point GD diagnosis may not occur until later ages when clinical manifestations occur. Splenomegaly is the presenting symptom for 95-99% of patients depending on the age. Diagnosis is by showing deficient enzyme activity in an appropriate tissue such as peripheral blood leukocytes. Genotyping can be helpful to help determine natu...
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