Successful use of liraglutide in a female patient with type 1 Gaucher disease, type 2 diabetes mellitus and obesity

Abstract Introduction Gaucher disease is a rare lysosomal storage disease, and caused by a mutation in the GBA1 gene with an autosomal recessive inheritance. Type 1 nonneuronopathic form is the most common form of the disease which commonly presents with painless splenomegaly, anemia, or thrombocytopenia, chronic fatigue, hepatomegaly (with or without abnormal liver function test findings), bone pain, or pathologic fractures. Type 2 and type 3 Gaucher disease may be associated with neurological abnormalities. Weight gain or the development of type 2 diabetes mellitus (T2D) was associated with Gaucher disease under enzyme replacement therapy in a few studies in the literature. In this case, we aimed to show the successful use of liraglutide in the management obesity in a patient with type 1 Gaucher disease and T2D. Clinical Case A 41-year-old female patient was presented with weight gain. The patient had a history of type 1 Gaucher disease for 20 years ago, T2D for 10 months, and primary hyperparathyroidism for 1 month. She underwent splenectomy at 4-year-old, and partial hepatectomy 1 year ago. She had been taking imiglucerase 60 IU/kg every 15 days, metformin 1000 mg 2×1/day, and duloxetine 60 mg/day. No history of smoking or alcohol use was present. Maternal history revealed also T2D. On physical examination, height was 153 cm, body weight 72.8 kg, body mass index 31.1 kg/m2. Vital signs and systemic examination findings were unremarkable with the exception of central obesity. Laboratory evaluation revealed that fasting blood glucose level was 120 mg/dL, HbA1c 6.6%, ALT 81 U/L, AST 53 U/L, and creatinine 0.8 mg/dL. Abdominal sonography revealed grade 2 hepatosteatosis and hepatomegaly with a diameter of 160 mm, but no cholelithiasis or pancreatic mass. Based on history, physical examination and work-up, no contraindications were detected for GLP1 receptor agonist therapy. Liraglutide (3.0 mg/day subcutaneous) was prescribed. It was initiated with a low dose (0.6 mg/day), and the dose was increased gradually. In the follow-up, the patient lost 3.5 kg (at about 4.8%), and BMI was decreased to 29.6 kg/m2 one month later. HbA1c level was measured as 6.3%, ALT 41 U/L, AST 33 U/L, and creatinine 0.8 mg/dL. The patient did not complain any side effect which might be potentially associated with Liraglutide. Conclusion With the successful use of liraglutide in a patient with a diagnosis of Gaucher, both weight control was achieved and liver function tests secondary to hepatosteatosis and perhaps gaucher's disease were improved. Our patient has an important feature with liraglutide being used for the first time in Gaucher's disease in the literature. In conclusion, liraglutide can be safely used in Gaucher patients for control obesity and especially in patients with hepatic dysfunction due to central adiposity.