Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide. It should be considered in any child or adult with an unexplained splenohepatomegaly and cytopenia which are seen in the three types of Gaucher disease. Type 1 is the non-neuronopathic form and type 2 and 3 are the neuronopathic forms. Type 2 is a more severe neuronopathic form leading to mortality by 2 years of age. Definitive diagnosis is made by a blood test-the glucocerebrosidase assay. There is no role for histological examination of the bone marrow, liver or spleen for diagnosis of the disease. Molecular studies for mutations are useful for confirming diagnosis, screening family members and prognosticating the disease. A splenectomy should not be performed except for palliation or when there is no response to enzyme replacement treatment or no possibility of getting any definitive treatment. Splenectomy may worsen skeletal and lung manifestations in Gaucher disease. Enzyme replacement therapy (ERT) has completely revolutionized the prognosis and is now the standard of care for patients with this disease. Best results are seen in type 1 disease with good resolution of splenohepatomegaly, cytopenia and bone symptoms. Neurological symptoms in type 3 disease need supportive care. ERT is of no benefit in type 2 disease. Monitoring of patients on ERT involves evaluation of growth, blood counts, liver and spleen size and biomarkers such as chitotriosidase which reflect the disease burden. Therapy with ERT is very expensive and though patients in India have so far got the drug through a charitable access programme, there is a need for the government to facilitate access to treatment for this potentially curable disease. Bone marrow transplantation is an inferior option but may be considered when access to expensive ERT is not possible.
Keywords: ACE, angiotensin converting enzyme; DEXA, dual energy X-ray absorptiometry; EEG, electroencephalography; ERT, enzyme replacement therapy; GBA, acid beta-glucosidase/glucocerebrosidase; GD, Gaucher disease; GD1, Gaucher disease type 1; GD2, Gaucher disease type 2; GD3, Gaucher disease type 3; ICGC, International Collaborative Gaucher Group; INCAP, India Charitable Access Programme; IQ, intelligence quotient; LSD, lysosomal storage disorders; MRI, magnetic resonance imaging; SF-36, short form 36; TRAP, tartarate resistant acid phosphatase; USG, ultrasonography; enzyme replacement therapy; glucocerebrosidase; lysosomal storage disorder; splenomegaly; thrombocytopenia.