Gaucher's disease with bone destruction as main performance: A case report and literature review / 吉林大学学报(医学版)

ABSTRACT

Objective: To analyze the clinical characteristics of a patient with of Gaucher's disease with bone destruction as the main performance, and to provide the reference for its clinical diagnosis and treatment. Methods: The clinical data of a case of Gaucher's disease with bone destruction as the main performance was summarized. Combined with the related literature review, the clinical performance, complications, treatment plan, prognosis and the latest relevant research progress of the patients with Gaucher's disease were analyzed. Results: A male patient, 49 years old, was admitted to the hospital due to intermittent right thigh pain for two years, with family history of Gaucher's disease and his parents were consanguineous marriage. The patient was diagnosed as Gaucher's disease 7 years ago. Combined with the patient's history, clinical performance, family history and various auxiliary examination results, the patient was diagnosed as Gaucher's disease, right femur bone destruction, hypersplenism. The patient's right femur was extensively damaged, and the right thigh was severely painful. The patient could not afford the long-term enzyme replacement treatment and planned to have a lesion resection. Because hypersplenism and thrombocytopenia were contraindication for surgery, partial embolization of the splenic artery was performed twice (the first embolization volume was 25%, and the second embolization volume was 35%). Blood cell count was performed one week after spleen embolization, which was significantly improved platelet count 87×109L-1, hemoglobin 91 g · L-1, and surgical treatment was planned. However, the pain was relieved and the patient gave up surgery. The patient was recommended to avoid injury, reduce weight-bearing, and prevent the pathological fractures; the patient was followed up regularly. Conclusion: The incidence of Gaucher's disease is increased in consanguineous marriage. A preliminary diagnosis was made based on the family history, clinical performance, and various auxiliary examinations, and further confirmed according to the detection of glucocerebrosidase activity. The patients with type I Gaucher's disease are eligible for enzyme replacement therapy. Without enzyme replacement therapy, the patients with chronic history will be concurrent bone destruction, hypersplenism, need symptomatic treatment such as surgery.