title: Ferritinemia during type 1 Gaucher disease: mechanisms and progression under treatment.
abstract: BACKGROUND
  Earlier results highlighted hyperferritinemia during type-1 Gaucher disease (GD), but its potential mechanisms and long-term progression remained unexamined.
  
  
  METHODS
  We analyzed the clinical, biological and iron characteristics of type-1 GD patients, before and after starting enzyme-replacement therapy (ERT). Iron parameters under ERT were subjected to linear-regression analyses.
  
  
  RESULTS
  Serum ferritin (median 739 [46-2371] μg/L) was determined for 54 patients (21 (39%) males; median age 32 [range 12-73] years) before ERT; it exceeded 300 μg/L in 47 (87%), while the other iron parameters always remained normal: transferrin saturation coefficient (26 [16-42]), serum iron at 13 [6-22] mmol/L and transferrin at 2.4 [2,3] g/L. Four patients had mild elevation of liver transaminases, with C-reactive protein >20mg/l in two. The absence of hemolysis was accompanied by a median bilirubin of 9 μmol/L and lactate dehydrogenase at 250 IU/L; diabetes and lipid anomalies were not observed. Clinical, biological and iron parameters at GD diagnosis were comparable for the 12 and 42 patients with ferritinemia ≤400 and >400 μg/L, respectively. Ferritinemia was measured at least once for 46 patients after ERT onset (median treatment duration 90 [3-204] months). At study closure, median serum ferritin was 187.5 [11-1560] μg/L, exceeding 300 μg/L in 15 (33%) patients, while the other iron parameters were normal. Among the latter, only the mean±SD ferritinemia slope decreased significantly under ERT (-1.9±0.3%/month; p<0.001).
  
  
  CONCLUSIONS
  Hyperferritinemia is a specific GD characteristic and serum ferritin monitoring could be informative during follow-up.
authors.affiliation: Service de Médecine Interne, Centre de Référence des Maladies Lysosomales, Hôpital Jean-Verdier, AP-HP, Université Paris XIII, Avenue du 14 juillet, 93140 Bondy, France. arsene150@yahoo.fr
authors.forename: Arsène
authors.initials: A
authors.lastname: Mekinian
authors.forename: Jérôme
authors.initials: J
authors.lastname: Stirnemann
authors.forename: Nadia
authors.initials: N
authors.lastname: Belmatoug
authors.forename: Djazia
authors.initials: D
authors.lastname: Heraoui
authors.forename: Bruno
authors.initials: B
authors.lastname: Fantin
authors.forename: Olivier
authors.initials: O
authors.lastname: Fain
authors.forename: Agnès
authors.initials: A
authors.lastname: Charpentier
authors.forename: Christian
authors.initials: C
authors.lastname: Rose
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001663:Bilirubin / Q000097:blood; D002097:C-Reactive Protein / Q000378:metabolism; D002648:Child; D056947:Enzyme Replacement Therapy / Q000009:adverse effects* / Q000379:methods; D005260:Female; D005293:Ferritins / Q000097:blood; D005776:Gaucher Disease / Q000097:blood / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000009:adverse effects* / Q000627:therapeutic use; D006801:Humans; D007501:Iron / Q000097:blood; D019189:Iron Metabolism Disorders / Q000097:blood* / Q000139:chemically induced*; D008297:Male; D008875:Middle Aged; D008991:Monitoring, Physiologic / Q000379:methods; D012189:Retrospective Studies; D000637:Transaminases / Q000097:blood
chemical_list: D002097:C-Reactive Protein; D005293:Ferritins; D007501:Iron; D000637:Transaminases; D005962:Glucosylceramidase; D001663:Bilirubin