Estimated prevalence of Gaucher disease is 1:50,000 in most countries and the disease has its highest incidence in the Ashkenazi Jewish population.
(PRWEB UK) 2 June 2015
European Oncology & Haematology, a peer-reviewed, open access, bi-annual oncology journal published a cutting-edge article by Maria-Domenica Cappellini.
Abstract: Gaucher disease, which is caused by an inherited glucocerebrosidase deficiency, is the most prevalent lysosomal storage disease worldwide. Estimated prevalence of Gaucher disease is 1:50,000 in most countries and the disease has its highest incidence in the Ashkenazi Jewish population. Type 1 (non-neuropathic) Gaucher disease is by far the most common form. Gaucher disease type 1 should be considered in cases of unexplained splenomegaly with or without bleeding diathesis, skeletal manifestations or hepatomegaly. Diagnosis is made by demonstrating decreased glucocerebrosidase activity in peripheral blood leucocytes. Dried blood spots can be used for screening but conventional enzyme assay on heparinised blood is essential. Patients with Gaucher disease may have extensive organ involvement despite relatively minor overt symptomatology. Evidence suggests that Gaucher disease may remain undiagnosed for years, leading to severe complications that are preventable or reversible with enzyme replacement therapy. These complications include avascular necrosis, severe bleeding, chronic bone pain, pathological fractures, growth failure, liver pathology and life-threatening sepsis. Most patients with Gaucher disease are initially evaluated by a haematologist–oncologist. Improved education is needed to enable prompt detection of Gaucher disease. An increased risk of multiple myeloma and haematological and non-haematological malignancies has been reported in type 1 Gaucher disease. This review aims to offer familiarisation with a rare disorder in haematological practice, focusing on adult patient management.
Gaucher disease (OMIM #230800) is an inherited deficiency of lysosomal enzyme acid ß-glucosidase (glucocerbrosidase, GBA1; EC 18.104.22.168) due to mutations in the glucocerebrosidase gene, GBA1. Genetic mutations affect the enzyme’s catalytic function, intracellular stability or subcellulartrafficking. Such enzyme deficiency results in the accumulation of glucocerebroside in lysosomes of macrophages (known as Gaucher cells, Figure 1), which are observed in many organs, primarily in the bone marrow, liver, spleen and lymph node parenchyma. The finding of an association between the GBA mutation in the heterozygous state and Parkinson’s disease indicates that there may be pathogenic roles for GBA mutations beyond enzyme deficiency.
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