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.
Serum ferritin (median 739 [46-2371] 渭g/L) was determined for 54 patients (21 (39%) males; median age 32 [range 12-73] years) before ERT; it exceeded 300 渭g/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 > 20 mg/l in two. The absence of hemolysis was accompanied by a median bilirubin of 9 渭mol/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 鈮?#xA0;400 and > 400 渭g/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] 渭g/L, exceeding 300 渭g/L in 15 (33%) patients, while the other iron parameters were normal. Among the latter, only the mean 卤 SD ferritinemia slope decreased significantly under ERT (鈭?#xA0;1.9 卤 0.3%/month; p < 0.001).
Hyperferritinemia is a specific GD characteristic and serum ferritin monitoring could be informative during follow-up.