Gaucher Disease: Clinical, Biochemical and Molecular Profile from Tertiary Care Center, Rajasthan

Abstract

Introduction: Gaucher disease (GD) is the most common inherited lysosomal storage disease, inherited as autosomal recessive and caused by mutations in acid β- glucosidase (GBA)gene resulting in accumulation of β- glucocerebroside in the macrophagic cells of the reticuloendothelial system.

Aims and objectives: To study clinical spectrum, biochemical and molecular profile in a cohort of GD patients in Rajasthan.

Material and methods: This hospital based observational study was carried out in department of pediatric medicine, SPMCHI, SMS Medical College, Jaipur from May 2020 to Aug 2021. Demographic and clinical data, investigations, β- glucocerebrosidase enzyme activity, pathogenic mutation in GBA gene and anthropometry and biomarkers for monitoring treatment were collected.

Results: Thirty patients aged between 1 day and 18 years were studied. Out of 30 patients 26 patients were diagnosed with Type 1(non-neuronopathic) and 4 with Type 3(chronic neuronopathic) GD. Common presentation was hepatosplenomegaly, bicytopenia (anemia and thrombocytopenia) and growth failure. Bone disease in the form of bone pain in seven patient and osteomyelitis in one patient was identified. The most common GBA variant was c.1448T>C(p.Leu483pro) which was detected in 25 patients. ERT was received by 2 patients through charitable access program on compassionate basis. Hematologic and visceral manifestations were reversed and quality of life was improved following ERT.

Conclusions: Early identification and treatment improves quality of life in these patients therefore developing countries like India need to channelize funding and resources for definitive management and all health care providers should be made aware of the presenting signs and symptoms of GD.