Early diagnosis of Gaucher disease in Korean patients with unexplained splenomegaly: a multicenter observational study
Young Rok Do1*, Yunsuk Choi2*, Mi Hwa Heo2, Jin Seok Kim3, Jae-ho Yoon4, Je-Hwan Lee5, Joon Seong Park6, Sang Kyun Sohn7, Sung Hyun Kim8, Sungnam Lim9, Joo Seop Chung10, Deog-Yeon Jo11, Hyeon Seok Eom12, Hawk Kim13, So Yeon Jeon14, Jong-Ho Won15, Hee Jeong Lee16, Jung Won Shin17, Jun-Ho Jang18, Sung-Soo Yoon19
1Department of Internal Medicine, Keimyung University Dongsan Hospital, Keimyung University School of Medicine, Daegu, 2Department of Hematology and Oncology, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Division of Hematology, Department of Internal Medicine, 3Severance Hospital, Yonsei University College of Medicine, 4Catholic Hematology Hospital and Leukemia Research Institute, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 5Department of Hematology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, 6Department of Hematology-Oncology, Ajou University School of Medicine, Suwon, 7Departments of Oncology/Hematology, Kyungpook National University Hospital, Kyungpook National University School of Medicine, Daegu, 8Division of Hematology and Oncology, Department of Internal Medicine, Dong-A University College of Medicine, Busan, 9Department of Internal Medicine, Inje University College of Medicine, Haeundae Paik Hospital, 10Division of Hematology-Oncology, Department of Internal Medicine, Pusan National University School of Medicine and Biomedical Research Institute, Pusan National University Hospital, Busan, 11Division of Hematology/Oncology, Department of Internal Medicine, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon, 12Department of Hematology-Oncology, Center for Hematologic Malignancy, National Cancer Center, Goyang, 13Division of Hematology, Gachon University Gil Medical Center, Gachon University College of Medicine, Incheon, 14Division of Hematology/Oncology, Department of Internal Medicine, Jeonbuk National University Hospital, Jeonbuk National University Medical School, Jeonju, 15Division of Hematology and Oncology, Department of Internal Medicine, Soonchunhyang University Hospital, Seoul, 16Department of Internal Medicine, Hemato-Oncology, Chosun University Hospital, Gwangju, 17Sanofi, Division of Hematology/Oncology, Department of Medicine, 18Samsung Medical Center, 19Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
Correspondence to: Jun-Ho Jang, M.D., Ph.D.
Division of Hematology/Oncology, Department of Medicine, Samsung Medical Center, 81, Irwon-ro, Gangnam-gu, Seoul 06351, Korea
E-mail : jh21.jang@samsung.com
Sung-Soo Yoon, M.D., Ph.D.
Division of Hematology/Medical Oncology, Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, 101, Daehak-ro Jongno-gu, Seoul 03080, Korea
E-mail : ssysmc@snu.ac.kr

*These authors contributed equally to this work.
Sources of support: This study was supported by Sanofi.
Published online: July 27, 2022.
© The Korean Journal of Hematology. All rights reserved.

Abstract
Background: Gaucher disease (GD) is an autosomal recessive disorder characterized by excessive accumulation of glucosylceramide in multiple organs. This study was performed to determine the detection rate of GD in a selected patient population with unexplained splenomegaly in Korea.
Methods: This was a multicenter, observational study conducted at 18 sites in Korea between December 2016 and February 2020. Adult patients with unexplained splenomegaly were enrolled and tested for β-glucosidase enzyme activity on dried blood spots (DBS) and in peripheral blood leukocytes. Mutation analysis was performed if the test was positive or indeterminate for the enzyme assay. The primary endpoint was the percentage of patients with GD in patients with unexplained splenomegaly.
Results: A total of 352 patients were enrolled in this study (male patients, 199; mean age, 48.42 yr). Amongst them, 14.77% of patients had concomitant hepatomegaly. The most common sign related to GD was splenomegaly (100%), followed by thrombocytopenia (44.32%) and, anemia (40.91%). The β-glucosidase activity assay on DBS and peripheral leukocytes showed abnormal results in sixteen and six patients, respectively. Eight patients were tested for the mutation, seven of whom were negative and one patient showed a positive mutation analysis result. One female patient who presented with splenomegaly and thrombocytopenia was diagnosed with type 1 GD. The detection rate of GD was 0.2841% (Exact 95% CI, 0.0072-1.5726).
Conclusion: The detection rate of GD in probable high-risk patients in Korea was lower than expected. However, the role of hemato-oncologists is still important in the diagnosis of GD.
Keywords: Acid β-glucosidase, Dried blood spot, Gaucher disease, Lysosomal storage disorder, Splenomegaly, Thrombocytopenia


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