New Study in A Rare Condition in Haematological Practice – Gaucher Disease

Share Article

European Oncology & Haematology, a peer-reviewed, open access, bi-annual oncology journal published a cutting-edge article by Maria-Domenica Cappellini.

News Image
Estimated prevalence of Gaucher disease is 1:50,000 in most countries and the disease has its highest incidence in the Ashkenazi Jewish population.

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 3.2.1.45) 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.

To continue reading this peer-reviewed article in full for free please go to : http://www.touchoncology.com/articles/rare-condition-haematological-practice-gaucher-disease

touchONCOLOGY (a division of Touch Medical Media) provides independent, cutting-edge, peer-reviewed content from world renowned physicians, designed to lead the debate on health and to engage, inform, and support physicians in improving patient outcomes globally.

touchONCOLOGY.com provides an international platform for peer-reviewed content from industry-leading journals alongside other carefully selected sources and aims to support physicians, clinicians and leading industry professionals in continuously developing their knowledge, effectiveness and productivity within the field of oncology.

Our portfolio of peer-reviewed journals, European Oncology & Haematology and Oncology & Hematology Review comprise of concise review articles which are designed to keep busy physicians up-to-date with the latest developments in their field and serve as a key reference resource for the international oncology community.

http://www.touchoncology.com/

Share article on socal media or email:

View article via:

Pdf Print

Contact Author

Barney Kent