Abstract

Background: Many uncommon metabolic disorders have a high prevalence in Arab countries due to the high rate of consanguineous marriages. This study aimed to assess the prevalence of Gaucher disease (GD) in patients with splenomegaly and/or thrombocytopenia of unknown cause in Saudi Arabia.
Methods: This screening study was conducted in 13 hematology and hematopathology centers in Saudi Arabia over 2 years. Patients with splenomegaly and/or thrombocytopenia of unknown cause for at least a year were included. Enzyme activity in eligible patients was assessed using a dried blood spot sample.
Results: Out of 390 patients, 87.4% had thrombocytopenia. In comparison, 8.8% had a history of splenectomy, and nearly 67.7% had splenomegaly. Fatigue, bone crises, and abdominal pain were commonly reported among adult patients. Anemia was the most common symptom among pediatric patients, followed by splenomegaly and easy bruising or bleeding. One patient was found to have GD. She was a Saudi toddler with no family history of GD, acid sphingomyelinase deficiency, or other genetic abnormalities. The GD patient’s neurological, cardiac, and skeletal examinations were normal.
Conclusion: This screening study paves the way for GD screening in Saudi Arabia. It also emphasizes the importance of early diagnosis, proper care, and positive outcomes for GD.

Key words: Gaucher Disease, splenomegaly, thrombocytopenia, Saudi Arabia.