The Role of Lipid Profile Assessment in Monitoring the effect of Imiglucerase in Children with Gaucher Disease

Abstract

Background: Gaucher disease (GD) is an autosomal recessive hereditary illness. Many biomarkers may have a role in the etiology, pathophysiology, diagnosis, and prognosis of GD in children, which is linked to difficulties owing to the involvement of multiple organs, including the liver, spleen, and bones. Objectives to: evaluate the impact of lipid profile levels in monitoring the response to the treatment for GD patients who are on enzyme replacement therapy. Methods: A case control study was done on sixty-seven children suffered from GD recruited from Children Welfare Hospital Consultation Clinic, Gastroenterology and Hepatology Teaching Hospital and Central Child’s Teaching Hospital. The levels of total cholesterol, triglyceride, LDL-C and HDL-C were determined in GD patients’ samples who were classified according to the duration of receiving treatment into four groups, first group include 9 newly diagnosed un treated patients, second group include 18 patients receiving treatment for 3-6 months, third group comprise 20 patients received treatment for 6-12 months (n=20) and fourth group include 20 patients received ERT for more than one year and compared with a control group comprise twenty age and sex-matched control subjects. The practical part of the study was conducted at research laboratories in the Department of Pharmacy, Al-Kunooze University College, Basra-Iraq during the period from November 2021 to February 2022. Results: The results showed that triglyceride (TG) levels in whole Gaucher patients were significantly greater than in age-matched controls, whereas total cholesterol and HDL-C levels in patients were significantly lower than in controls. Non-significant variations in LDL-C levels, on the other hand, were observed. The negative significant correlations between the levels of TG and the period of receiving treatment and the positive significant correlations between the levels of total cholesterol and the period of receiving treatment revealed that these parameters were remarkably associated with the period of receiving ERT treatment. The effect of ERT was also demonstrated by the results of the ANOVA test, which revealed significant variations in the levels of TG and HDL-C across the patient subgroups. Conclusions: TG and HDL-C have been shown to have diagnostic significance in newly diagnosed untreated individuals with a wide range of treatment responses, limiting their utility in treatment monitoring whereas LDL-C showed to be neither affected by the disease nor by the treatment.