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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 > 20 mg/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 Conclusion Hyperferritinemia is a specific GD characteristic and serum ferritin monitoring could be informative during follow-up.

La maladie de Gaucher n'entraine pas d'anomalie de la fertilite. En revanche, le risque d'avortement spontane est plus important que dans la population generale. L'evolution de la MG pendant la grossesse est variable, fonction de la severite de la maladie au debut de la grossesse. Des complications peuvent survenir pendant la grossesse, le post-portum voire l'allaitement: augmentation de volume du foie et de la rate, majoration de la thrombopenie et de l'anemie, complications hemorragiques et osseuses La grossesse doit etre envisagee lorsque la MG est moderee ou stabilisee sous traitement. L'Imiglucerase (Cerezyme ® ) peut etre administre pendant la grossesse ou l'allaitement. En revanche, le miglustat (Zavesca ® ) est contre-indique chez les femmes enceintes et en cas de desir de grossesse.