Ferritinemia during type 1 Gaucher disease: mechanisms and progression under treatment.

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).

CONCLUSION

Hyperferritinemia is a specific GD characteristic and serum ferritin monitoring could be informative during follow-up.