Abstract Ref Number = APCP291
The First Enzyme Replacement Therapy for Gaucher Disease in Indonesia
AnnisaRahmania Yulman,Cut Nurul Hafifah,Damayanti Rusli Sjarif
Department of Child Health, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo National General Hospital, Jakarta, Indonesia
Background : Gaucher disease is the most common lysosomal storage disease (LSD) which can be treated with enzyme replacement therapy (ERT). We aim to report the first case of Gaucher disease treated with ERT in Indonesia.
Case Presentation Summary : A boy with abdominal distention and palpable mass in left side since 10 months of age. Patient came to Cipto Mangunkusumo Hospital (CMH) at the age of 3 years old, with epistaxis. We noticed he also had hepatosplenomegaly and short stature. The patient was first suspected as Langerhans cell histiocytosis (LCH) or glycogen storage disease (GSD). We found pancytopenia, Gaucher cell in bone marrow aspiration, and osteoporosis with Erlenmeyer formation in radiologic examination. Patient was diagnosed as Gaucher disease in the age of 3 years and 4 months old based on decreased beta-glucosidase (0.52mmol/min.mg) and increased chitotriosidase (3212 nmol/ml). After 6 months of diagnosis, patient received donation for ERT which cost 1,2 billion Rupiah/year and began his first ERT infusion in May 2017. After a year of therapy, the liver size has decrease from 8 cm to 1 cm below arcus costae. The spleen size decrease from Schuffner VII to II. Haemoglobin has improved from 7.4 g/dL to 12.2 g/dL without any transfusion. Patient also became taller as his height increased 13 cm. Patient has also become more active with good quality of life.
Learning Points/Discussion : Gaucher disease may mimic other diseases such as leukaemia, LCH, or GSD. Physicians need average time of 48,7 ±123,6 months to diagnose the disease. Enzyme administration improves patient outcome.
Keywords: Gaucher disease lysosomal storage disease Enzyme replacement therapy