Management of Gaucher Disease in Low-Income Countries: A Single Center Experience

Background: Gaucher disease is a storage disease caused by glucocerebrosidase deficiency. Manifestations range from isolated splenomegaly to systemic involvement. Enzyme replacement therapy (ERT) has improved prognosis especially in children.

Objective: Highlighting management difficulties in low resources center.

Methods: Retrospective report of fourteen cases of pediatric Gaucher disease.

Results: Nine cases belong to four distinct families. All the cases were consanguineous. Four cases had a history of death in newborn-siblings. Mean age was of 7.3 years (extremes of 6 months and 14 years). Girls presented 57% of cases. Time between onset of symptoms and diagnosis was of 2.4 years. Symptoms at diagnosis were cirrhosis in 69%, isolated splenomegaly in 30%, ruptured esophageal varices in 30%, bone pain in 30%, and macrophages activating syndrome in 7.7%. Meanwhile, 15% were diagnosed after systematic screening in asymptomatic siblings. Hematological findings were as follows: anemia in 77%, pancytopenia in 54%, and thrombocytopenia in 31%. Myelogram found Gaucher cells in only one case. Glucocerebrosidase levels were undetectable in all the cases, and Lyso-GL1 activity was above 400 mg/ml in three patients. Genetic testing found N370S mutation in two siblings, while no mutations were identified in the remaining children. ERT (Imiglucerase) is given on a regular basis in only six cases: four of them receive free treatment from the parent’s health insurance, while three siblings are enrolled in charity programs. As for the remaining five cases, free treatment is provided by the hospital on an irregular basis (with periods of treatment breaks exceeding 6 months). One child had aseptic osteonecrosis of the femoral head, and another one had pulmonary hypertension. We deplore the death of two children by liver failure.

Conclusion: Gaucher disease is a treatable storage disease, on condition of starting ERT as soon as possible.