title: Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists.
abstract: Gaucher disease (GD) is an inherited enzyme deficiency characterised by progressive cytopenias, hepatosplenomegaly and destructive bone disease. It is diagnosed by demonstration of beta glucosidase deficiency but may be suspected in presence of abnormal storage cells on tissue biopsy. Specific treatment is available in the form of enzyme replacement (ERT) and is effective in reversing many disease features. Delayed treatment has been associated with increased disease complications. This retrospective review of a single centre cohort of 86 patients was undertaken to ascertain if the diagnostic journey had improved since the introduction of ERT and commissioning of services. Fifty-six percent of patients presented primarily with features related to thrombocytopenia or splenomegaly with a median time from symptom onset to diagnosis of 2years (range 0.5-26years), 19% experiencing delays of 5 or more years. Seventy-five percent of patients were diagnosed by haematologists, 68% following an abnormal bone marrow biopsy. Raised serum ACE levels, low HDL cholesterol and raised ferritin were identified as prevalent laboratory abnormalities at the time of diagnosis. These features, coupled with the relative preservation of haemoglobin and white cell counts compared to the platelet count, help identify patients presenting to haematologists with a possible diagnosis of GD earlier in the diagnostic pathway.
authors.affiliation: Lysosomal Storage Disorders Unit, Department of Academic Haematology, Royal Free Hospital and University College Medical School, London, UK.
authors.forename: A S
authors.initials: AS
authors.lastname: Thomas
authors.forename: A B
authors.initials: AB
authors.lastname: Mehta
authors.forename: D A
authors.initials: DA
authors.lastname: Hughes
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D003955:Diagnostic Tests, Routine; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012189:Retrospective Studies; D055815:Young Adult