Gaucher disease in Iraqi children(clinical,diagnostic and therapeutic aspects)

Background and Objective: Gaucher disease is the most common inherited lysosomal storage disorder. It is a multi organ disease affecting bone marrow, liver, spleen, lungs, and other organs contributes to pancytopenia and massive hepatosplenomegaly. This study aimed to spotlight on clinical and laboratory characteristics of children with Gaucher disease to raise awareness among physicians about the disease and to evaluate the outcome of enzyme replacement therapy (ERT).

Methods: Clinical courses were reviewed in 30 patients with age (2-22 years) with Gaucher disease. After starting (ERT), assessment of response included serial measurements of hematological parameters, spleen and liver sizes, symptoms and signs of bone disease, growth and severity scores were also evaluated.

Results: The most presenting age group was (1–5) years (60%). Abdominal distension was the most common presenting symptom, Splenomegaly presented in all of the patients. A significant response to ERT was observed, weight and height increased, both liver and spleen sizes decreased. Hemoglobin level normalized in (67%) of the anemic patients, platelet count normalized in (53.8%) after 6 months from (ERT), the mean of severity scoring index decreased with ERT from (10.2±5.8) to (7.8±5.7) after one year of treatment.

Conclusion: Using ERT was safe and effective in the reversal of hematological complications and organomegaly in most of the patients.