Jian-Hui Zhang, Hui Chen, Dan-Dan Ruan, Ying Chen, Li Zhang, Mei-Zhu Gao, Qian Chen, Hong-Ping Yu, Jia-Yi Wu, Xin-Fu Lin, Zhu-Ting Fang, Xiao-Ling Zheng, Jie-Wei Luo, Li-Sheng Liao, Hong Li
Gaucher disease (GD) is an autosomal recessive ailment resulting from glucocerebrosidase deficiency caused by a mutation in the GBA1 gene, leading to multi-organ problems in the liver, spleen, and bone marrow. In China, GD is extremely uncommon and has a lower incidence rate than worldwide. In this study, we report the case of an adult male with an enlarged spleen for 13 years who presented with abdominal distension, severe loss of appetite and weight, reduction of the three-line due to hypersplenism, frequent nosebleeds, and bloody stools...
March 20, 2024: Annals of Hematology