title: Haemorheology in Gaucher disease.
abstract: In Gaucher disease, a deficiency of glucocerebrosidase results in the accumulation of glucocerebroside within the lysosomes of the monocyte-macrophage system. Prior to the availability of enzyme replacement therapy (ERT), splenectomy was often indicated for hypersplenism. Haemorheological abnormalities could be expected in view of the anaemia and abnormal lipid metabolism in these patients and the role of the spleen in controlling erythrocyte quality.
  
  
  OBJECTIVE
  To investigate the effect of Gaucher disease on blood and plasma viscosity, erythrocyte aggregation and erythrocyte deformability, and to determine whether observed rheological differences could be attributed to splenectomy.
  
  
  METHODS
  Haematological and haemorheological measurements were made on blood collected from 26 spleen-intact patients with Gaucher disease, 16 splenectomised patients with Gaucher disease, 6 otherwise healthy asplenic non-Gaucher disease subjects and 15 healthy controls.
  
  
  RESULTS
  No haemorheological differences could be demonstrated between spleen-intact patients with Gaucher disease and the control group. Compared to controls, both asplenic Gaucher disease and asplenic non-Gaucher disease study groups had a reduced MCHC (P = 0.003 and 0.005, respectively) and increased whole blood viscosity at 45% haematocrit (Hct), relative viscosity and red cell aggregation index - all measured at low shear (P < 0.05 for all). Additionally, asplenic patients with Gaucher disease alone showed an increased MCV (P = 0.006), an increased whole blood viscosity at 45% Hct measured at high shear (P = 0.019), and a reduced relative filtration rate (P = 0.0001), compared to controls.
  
  
  CONCLUSIONS
  These observations demonstrate a direct and measurable haemorheological abnormality in Gaucher disease only revealed when there is no functioning spleen to control erythrocyte quality.
authors.affiliation: Child Health, Department of Clinical Developmental Sciences, St George's, University of London, UK. bebax@sgul.ac.uk
authors.forename: Bridget E
authors.initials: BE
authors.lastname: Bax
authors.forename: Linda
authors.initials: L
authors.lastname: Richfield
authors.forename: Murray D
authors.initials: MD
authors.lastname: Bain
authors.forename: Atul B
authors.initials: AB
authors.lastname: Mehta
authors.forename: Ronald A
authors.initials: RA
authors.lastname: Chalmers
authors.forename: Michael W
authors.initials: MW
authors.lastname: Rampling
mesh_terms: D016022:Case-Control Studies; D004903:Erythrocyte Aggregation; D005776:Gaucher Disease / Q000097:blood* / Q000188:drug therapy; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000627:therapeutic use*; D018056:Hemorheology; D006801:Humans
chemical_list: D005962:Glucosylceramidase; C090568:imiglucerase