Abstract Ref Number = APCP1144
GAUCHER DISEASE WITH LOW CHITOTRIOSIDASE ACTIVITY– A CASE REPORT
Yuliana Yunarto,Rina Pratiwi,Maria Mexitalia,Nyoman Suci Widyastiti
Department of Pediatrics Faculty of Medicine Diponegoro University Dr Kariadi Hospital Department of Pediatrics, Faculty of Medicine, Diponegoro UniversityDr Kariadi Hospital, Semarang Department of Clinical Pathology, Faculty of Medicine, Diponegoro UniversityDr Kariadi Hospital, Semarang
Background : Gaucher disease (GD) is a rare autosomal recessive disorder with incidence estimated to be 1 in 40,000 live birth. GD is caused by deficiency of beta-glucocerebrosidase enzyme that leads to accumulation of glucocerebroside in macrophage-monocyte system cells in various tissues. The cells secrete chitotriosidase, resulting in increased plasma chitotriosidase level. However, around 6% GD patients exhibit low chitotriosidase activity due to gene polymorphism. Symptoms in GD may vary greatly, most patients are diagnosed incidentally due to other medical problems. Enzyme replacement therapy (ERT) is the current available treatments in GD, though it comes with a burden of lifelong IV therapy as well as high cost.
Case Presentation Summary : A 2-year-old boy; first born of no consanguineous marriage with no significant perinatal history. The patient was presented earlier with prolonged fever, distended abdomen, and severe thrombocytopenia. He received platelet transfusions with no significant improvement. The patient was referred to our hospital and initially assessed as hematological malignancy. Laboratory investigations revealed pancytopenia (hemoglobin=8.5 g/dl, leukocyte=3.1x109/L and platelets=90x103/uL) and slightly increased liver enzymes (AST=79 U/L, ALT=46 U/L, LDH=646 U/L). Radiographic examination revealed Erlenmeyer flask deformity of distal femur. Abdominal MSCT impression was hepatosplenomegaly. Bone marrow aspiration detected 10% of Gaucher cells. Enzymatic assays revealed low beta-glucosidase (1.61 uM/hr), but the chitotriosidase level was inconsistently low (2.21 nmol/mL WB/hr). The patient was planned to receive ERT. However, due to family low socioeconomic status, they sought for resources to help funding the treatment.
Learning Points/Discussion : Clinicians should be aware of this rare but potentially treatable disease. The presence of organomegaly and cytopenias as early findings often raises suspicion of hematological disease. Early treatment may prevent development of irreversible pathology and improves growth. Imiglucerase (Cerezyme®) is the available ERT in Indonesia and given 60 U/kg once every 2 weeks. It is available in certain centre and uncovered by national health insurance.
Keywords: Gaucher disease beta-glucosidase chitotriosidase thrombocytopenia