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Year : 2020  |  Volume : 11  |  Issue : 3  |  Page : 93-101

Management algorithms for gaucher disease

1 Department of Hematology/Oncology King Saud Bin Abdulaziz University for Health Sciences; Division of Adult Hematology & HSCT, King Abdulaziz Medical City, Riyadh, Saudi Arabia
2 Center of Excellence in Thrombosis and Hemostasis, King Saud University-Medical City, Riyadh, Saudi Arabia
3 Pediatrics Hematology/Oncology Department King Abdullah Medical City, Madinah, Saudi Arabia
4 Department of Medicine, Hematology Section, King Fahad Hospital, Hofuf, Saudi Arabia
5 Department of medicine, Qatif Central Hospital, Qatif, Eastern Province, Saudi Arabia
6 Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
7 Department of Medical Affairs, Sanofi-Genzyme, Jeddah, Saudi Arabia
8 Department of Pediatrics, East Jeddah General Hospital, Jeddah, Saudi Arabia

Correspondence Address:
Dr. Ayman Alhejazi
Department of Hematology/Oncology King Saud Bin Abdulaziz University for Health Sciences, Division of Adult Hematology & HSCT, King Abdulaziz Medical City, Riyadh
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/joah.joah_46_20

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INTRODUCTION: Gaucher disease is a challenging disease because of the progressive nature and multiple systems that are involved. Gaucher disease is underdiagnosed in Saudi Arabia. It is sometimes misdiagnosed with other hematological diseases. The prevalence is apparently higher than what is currently reported in the available literature. This might be mainly due to the high percentage of consanguinity, especially among tribes. The main objective of this consensus was to provide a comprehensive algorithm for the diagnosis of Gaucher disease for hematologists mainly. Gaucher-related peer-reviewed literature was discussed and adapted to match the practice in Saudi Arabia. Discussion of different Clinical presentations for adult and pediatric patients and improving access to Diagnostic testing like Enzymatic analysis and genetic testing to be able to find solutions for the issue of delayed diagnosis of Gaucher Disease in Saudi Arabia. METHODS: After a thorough literature review, the group discussed set of queries such as: The difference in adults and Pediatric Gaucher disease diagnostic algorithms in Saudi Arabia. The management goals for Gaucher disease and the local risk assessment parameters were discussed as well. In addition to the unmet needs in Gaucher disease, and reasons for delayed Gaucher disease diagnosis and their consequences. Then, the group adapted the algorithms after localizing each step. RESULTS: After reviewing different Gaucher disease diagnostic algorithms by Mistry PK et al for the adult age group and Di Rocco M et al for the pediatric age group, We were able to draft complete detailed algorithms for diagnosis of Gaucher. CONCLUSION: Gaucher disease is underdiagnosed or misdiagnosed. The actual prevalence can be higher than what is reported in the literature, and the current number of diagnosed cases does not reflect the actual prevalence.

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