title: Very low serum adiponectin levels in patients with type 1 Gaucher disease without overt hyperglycemia.
abstract: Gaucher disease (glucocerebrosidase deficiency) is characterized by massive accumulation of lipid-laden macrophages in various tissues. Patients with Gaucher disease show a hitherto unexplained increase in hepatic glucose output. Because adiponectin is thought to influence hepatic glucose output, we studied its serum concentration in a cohort of patients with Gaucher disease. Serum adiponectin was indeed found to be markedly reduced in patients (median value, 3.1 microg/mL; range, 1.4-6.3 microg/mL) as compared with healthy subjects (median value 5.6 microg/mL range, 1.9-14.0 microg/mL). Successful treatment of patients was accompanied by an increase in serum adiponectin, from 3.1 to 3.6 microg/mL (P = .002). In healthy individuals, low levels of circulating adiponectin are generally associated with obesity. In patients with Gaucher disease, however, adiponectin levels did not correlate with body mass index. The hypoadiponectinemia in Gaucher patients is most likely attributable to their low-grade chronic inflammation. The characteristic storage macrophages produce inflammatory cytokines such as tumor necrosis factor alpha that is known to suppress adiponectin production. It is of interest that the very low adiponectin levels in Gaucher patients are not accompanied by hyperglycemia, contrary to their effect in obese individuals. It is hypothesized that the excessive hepatic glucose production in these patients balances the assumed increased glucose consumption by the massive amounts of storage macrophages. Hypoadiponectemia may play a regulatory role in preventing hypoglycemia in this condition.
authors.affiliation: Department of Internal Medicine, Academic Medical Center, University of Amsterdam, Meibergdreef 15, P.O. Box 227000, 1105 AZ, Amsterdam, The Netherlands.
authors.forename: Mirjam
authors.initials: M
authors.lastname: Langeveld
authors.forename: Saskia
authors.initials: S
authors.lastname: Scheij
authors.forename: Peter
authors.initials: P
authors.lastname: Dubbelhuis
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
authors.forename: Hans P
authors.initials: HP
authors.lastname: Sauerwein
authors.forename: Peter
authors.initials: P
authors.lastname: Simons
authors.forename: Johannes M F G
authors.initials: JM
authors.lastname: Aerts
mesh_terms: D052242:Adiponectin / Q000097:blood; D000328:Adult; D015992:Body Mass Index; D005260:Female; D005776:Gaucher Disease / Q000097:blood* / Q000188:drug therapy; D005962:Glucosylceramidase / Q000627:therapeutic use; D006801:Humans; D006943:Hyperglycemia / Q000517:prevention & control*; D008297:Male; D008875:Middle Aged; D020033:Protein Isoforms
chemical_list: C499918:ADIPOQ protein, human; D052242:Adiponectin; D020033:Protein Isoforms; D005962:Glucosylceramidase