Abstract
Background and Objectives
Management and treatment of Gaucher disease are quite challenging because of its progressive nature and multisystem involvement. Gaucher disease is misdiagnosed or underdiagnosed in Saudi Arabia due to the high practice of consanguinity, especially among tribes. The prevalence is expected to be much higher than reported in the western countries. The diagnosed cases do not reflect the current prevalence in Saudi Arabia. Therefore, the aim of this consensus statement was to provide a comprehensive algorithmic guideline for the diagnosis and treatment of Gaucher disease for healthcare professionals, especially hematologists adapted to the local circumstances and possible diseases that may mimic Gaucher disease presenting clinical picture.
Methods
Adult and pediatric hematology or oncology experts from different healthcare sectors in Saudi Arabia reviewed the worldwide related peer-reviewed literature before the meeting on February 2nd, 2019 during the 17th Annual Meeting of Saudi Society of Hematology 2019. During this meeting, variable experiences of misdiagnosis patterns in Gaucher disease were discussed. Diagnosis and management algorithms of Gaucher disease were further discussed and adapted to match the situation in Saudi Arabia
Results
Splenomegaly is a cardinal sign for the diagnosis of Gaucher disease in adults. While the young aged patients with splenomegaly and gammopathies or multiple myeloma should be considered Gaucher disease after exclusion of the malignancies (Figure 1). While in patients with normal spleen and refractory immune thrombocytopenia (ITP) or associated with anemia, bone marrow biopsy is essential to roll out malignancy before going to enzymatic assay. In pediatric patients, splenomegaly and thrombocytopenia are alarming signs to refer the patients to a hematologist (Figure 2). The lack of adequate awareness among physicians and lack of easy diagnostic tests are the most challenging factors for Gaucher disease diagnosis. Hematological malignancies, thalassemia, ITP, and multiple myeloma are the most common differential diagnosis for Gaucher disease (Table 1). Regarding the short and long-term management goals, the authors added the hepatocellular carcinoma as one of the long-term complications of Gaucher disease and recommended MRI to test for bone mineral density.The authors agreed on the platelet count of <150 x 109/L is diagnostic for thrombocytopenia for Saudis. The authors recommend either MRI or DXA over the biomarkers are to ensure proper diagnosis and assessment of bone manifestations (Figure 3).
Conclusion
The compelling issue with Gaucher disease in Saudi Arabia is the late diagnosis. Therefore, identify the adult and pediatric milestones of clinical presentation and improve the access to enzyme assay and the gene sequencing could solve the issue of late diagnosis in Saudi Arabia. Besides, Gaucher disease registry with a screening program for thrombocytopenic patients with or without splenomegaly can provide an accurate estimation of the disease prevalence.
Disclosures
Elbagoury: Sanofi-Genzyme: Employment. Hussein:Sanofi-Genzyme: Employment.