Long-term results in Gaucher disease monitoring

Gaucher's Disease (GD) is a lysosomal lipid storage disease, which is characterized by beta glucocerebrosidase enzyme deficiency. It has an autosomal recessive genetic nature. There is an accumulation of glucocerebroside due to a mutation in the gene which codes the glucocerebrosidase enzyme in macrophages. This disease is divided into three subtypes according to their neurological involvement and progress into neurological disease as Type 1 (chronic non-neuropathic type), Type 2 (acute neuropathic or infantile type and Type 3 (chronic neuropathic or juvenile type). The main objective was to assess the clinical outcomes, lab results, received treatments and their response and long-term follow-up results of Gaucher's Disease patients, which are followed by Ege University Pediatric Metabolism and Nutrition Department. 42 patients in total were included in the study. 31(81%) of these patients was diagnosed with Type 1, 7 (16.7%) with Type 2 and 1 was diagnosed with Type 3 of the disease. Mean age was 25,5 and mean age at the initial diagnosis was 12. The most common complaints were abdominal bloating and cytopenia. Anemia was seen in 45.2% of the patients whereas thrombocytopenia was seen in 42.8% of the patients. At the time of admission, 33 (80%) patients had hepatosplenomegaly, 10 (24%) had retarded growth and 5 (12%) had acute bone crises. 8 (19%) patients were diagnosed with osteoporosis in bone densitometry studies. 6 (14.3%) patients had previous splenectomy history. In patients with splenectomy history, Z-score in bone densitometry showed significantly more severe osteoporosis in femur neck and vertebra. One patient presented to our clinic because of developing Parkinson-like symptoms, due to not receiving treatment despite the diagnosis of Gaucher Type 1 in his early childhood. This patient developed severe liver failure and received a liver transplant. One patient diagnosed with Type 3 had cardiac involvement and that patient died due to a cardiac arrest. Complete enzymatic assay and GBA gene analysis was used in all patients for the definite diagnosis. ERT was the first line of choice for the treatment of all patients. ERT initiation age varied from 2 months to 65 years of age. ERT treatment period changed from 1 month to 15 years. ERT treatment dosages were between 30 IU/kg and 120 IU/kg. High dosage ERT treatment responses were assessed according to the disease subtype. 5 patients with Type 3 subtype received 60 IU/kg and 2 patients received 120 IU/kg as ERT. SRT was used in 6 patients during post-ERT period. A significant improvement was seen in hematological parameters, organ volumes and bone findings in the patients who received the treatment and their follow-up control values showed a decrease. 8 patients who paused treatment showed a decrease in Hb and Hct values. No difference was detected in platelet levels. 4 patients (50%) showed an increase in their follow-up values after pausing the treatment and increased organ volume was detected in 1 patient. During treatment period, 6 patients were lost. 3 of those patients had Type 1, 1 patient had Type 2 and 2 patients had Type 3 diagnosis.