A reappraisal of Gaucher disease patients - Clinical presentation, and diagnosis in rare disease unit of central child teaching hospital in Baghdad province

Introduction and Aim: Gaucher disease (GD) is an autosomal recessive ailment caused due to mutations in the GBA1 gene, encoding for the lysosomal enzyme, glucocerebrosidase. The aim was to evaluate the clinical, biochemical, and molecular parameters associated with this disease, as well as to identify symptoms and covariables thought to be most diagnostic of early GD presentation, allowing for early diagnosis and management.   Methodology: This cross-sectional study involved twenty-six patients diagnosed with GD at the Metabolic Department of Central Child Teaching Hospital, Baghdad, Iraq. Diagnosis depended mainly on history and physical examination and confirmed by beta-glucosidase enzyme assay of dry blood spot on filter paper and Lyso-GL-1 level. Amplification-based next generation sequencing approach was used in investigating the GBA1 gene at the molecular level.   Results: The mean age of the 26 (17 male and 9 female) patients was 9.13 years, with 100% consanguinity and 50% positive family history. The average number of years from the start of clinical manifestations to the diagnosis' validation was 3.82 years. The original age of presentation was 2.83 years, and the initial age of diagnosis was 6.65 years. Hepatosplenomegaly (85%), pallor (88%), splenomegaly (12%), splenectomy (12%), hemorrhage (19%), bone discomfort (23%), bone breakage (12%), and GD type III (19%) were observed. Among patients 65% exhibited radiological bone abnormalities, 54% had Erlenmeyer flask deformity, and 1.5% had osteopenia and fracture. Studies of GBA1 gene showed the mutation C.[1448T>c ](P.[ Leu483Pro] to be the most common. Hepatosplenomegaly and hematological deficiencies were effectively improved by enzyme replacement therapy.   Conclusion: In Gaucher disease, GBA1 gene mutation analysis could provide some predictive information about disease variance as well as severity. PCV%, platelet count, ferritin, and lyso-GL-1 levels could be employed as biomarkers for the diagnosis of GD. ERT proved effective in treating hematological and hepatosplenomegaly abnormalities.