The diagnostic and therapeutic approaches in children living in Iraq with Gaucher disease (GD) were recently evaluated in a study, “Gaucher disease in Iraqi children (Clinical, diagnostic & therapeutic aspects),” published in the Pak J Med Sci.
Gaucher disease is caused by a deficient enzyme called acid β-glucosidase, responsible for hydrolysis of lipids present in sheaths of the nerve fibers. This defect induced by mutations in the glucocerebrosidase gene results in accumulation of lipids that contributes to massive enlargement in organs like the spleen and liver.
There are three main types of Gaucher disease (Type 1, 2, 3 GD), which differ mainly in symptoms and rate of disease progression. The disease manifestation is treated through several therapeutic approaches, including the standard enzyme replacement therapy (ERT) based on recombinant human acid β-glucosidase (imiglucerase).
Due to the ongoing tensions and hostilities in the region, the prevalence of Gaucher disease in Iraq is difficult to assess. However, recent statistics taken from healthgrades’ RightDiagnosis website indicate that 1 in 50,000 people are affected by GD. In this study, researchers evaluated GD in Iraqi children from clinical and laboratory perspectives in an attempt to increase Iraqi healthcare professionals’ awareness about Gaucher disease, and to assess the efficiency of treatments based on ERT.
Thirty GD patients ages 2 to 22, of which 60 percent were ages 1 to 5, were included in the study. The participants received the ERT treatment while changes in hematological parameters, signs of bone disease, spleen and liver sizes, growth, and severity scores were monitored after treatment.
The results indicated that most patients showed signs of abdominal distension with abnormal enlargement of the spleen. The administration of the ERT treatment led to several outcomes: increase in the weight and height; reduction in both the liver and spleen sizes; normalization of the hemoglobin levels in 67 percent of the anemic patients; adjustment in the platelet count in 53.8 percent of patients after six months ERT; and a decrease in the average of severity scoring index after 12 months of the ERT treatment.
“Using ERT in treating patients with Gaucher disease was effective in the reversal of hematological complications, organomegaly, and other changes in most of the patients, despite being started late. Splenectomy is not advisable in patients with Gaucher disease because its complication override the benefits,” the authors concluded.