title: Aggregation of red blood cells in patients with Gaucher disease.
abstract: Gaucher disease is associated with increased red blood cell (RBC) aggregation, but the pathophysiological significance of this phenomenon and its correlation with disease manifestations are unclear. RBC aggregation was evaluated in 43 patients with Gaucher disease and 53 healthy controls. Dynamic RBC aggregation was examined in a narrow-gap flow chamber at varying shear stress. Compared with the controls, RBC aggregation in Gaucher disease was increased by 25%. Comparison of RBC aggregation in autologous plasma and in dextran (500 kDa) showed an increase both in plasma-dependent (extrinsic) and -independent (intrinsic) RBC aggregation. Subgroup analysis revealed that increased RBC aggregation was limited to patients with an intact spleen. RBC aggregation in patients did not correlate with plasma fibrinogen concentration, disease severity, enzyme replacement therapy or genotype. We conclude that RBC aggregation is increased in patients with Gaucher disease and an intact spleen, possibly reflecting the accumulation of glucocerebroside and other substances in the plasma and RBC membranes of these patients. Our results do not support a role for RBC aggregation in the pathogenesis of vascular complications of Gaucher disease.
authors.affiliation: Gaucher Clinic, Shaare Zedek Medical Centre, Jerusalem, Israel.
authors.forename: Tomer
authors.initials: T
authors.lastname: Adar
authors.forename: Ronen
authors.initials: R
authors.lastname: Ben-Ami
authors.forename: Deborah
authors.initials: D
authors.lastname: Elstein
authors.forename: Ari
authors.initials: A
authors.lastname: Zimran
authors.forename: Shlomo
authors.initials: S
authors.lastname: Berliner
authors.forename: Saul
authors.initials: S
authors.lastname: Yedgar
authors.forename: Gershon
authors.initials: G
authors.lastname: Barshtein
mesh_terms: D000328:Adult; D000704:Analysis of Variance; D001799:Blood Sedimentation; D002097:C-Reactive Protein / Q000032:analysis; D016022:Case-Control Studies; D004903:Erythrocyte Aggregation; D004907:Erythrocyte Deformability; D005260:Female; D005340:Fibrinogen / Q000032:analysis; D005434:Flow Cytometry; D005776:Gaucher Disease / Q000097:blood* / Q000601:surgery; D006801:Humans; D008297:Male; D008875:Middle Aged; D013156:Splenectomy
chemical_list: D005340:Fibrinogen; D002097:C-Reactive Protein