Diagnosis and management of hematological manifestations of gaucher disease: Insights from Saudi Arabia

Abstract

Gaucher disease (GD) is a lysosomal storage disorder that occurs due to an inherited inborn error of metabolism. GD manifested due to the deficient activity of the glucocerebrosidase enzyme that results in the accumulation of the harmful glucocerebrosides glycolipids in different body cells. There are three main types of GD that differ from each other in their clinical presentations. Type I characterized by the absence of any neurological involvement, unlike Type II and Type III. Patients with Gaucher can be presented with visceral manifestations (including splenomegaly, hepatomegaly, or abdominal pain), hematological manifestation (anemia or thrombocytopenia or bleeding diathesis), bone manifestations (painful limbs or pathological fractures), or neurological manifestations (including neck rigidity, swallowing disorder, or oculomotor paralysis). In the Middle East, especially Saudi Arabia, a higher prevalence of genetic diseases was observed compared to reported rates in Europe and the United States. However, published data on the characteristics and treatment patterns of Gaucher patients in Saudi Arabia are still lacking in the literature. Therefore, the present manuscript aimed to present an overview of the GD situation in Saudi Arabia by bringing together a panel of Saudi hematology experts to share their views on current trends and practices in Saudi Arabia regarding GD. The experts agreed that there is no available data regarding the prevalence and incidence of GD in Saudi Arabia, therefore the experts recommend establishing a national registry for Gaucher cases. The diagnosis of GD is challenging as the disease is rare and obscure, even to hematologists. The experts also recommend shifting from the dried blood spots test to genetic testing in the future to confirm the diagnosis of GD. The experts agreed on the need to organize awareness campaigns to familiarize the primary care physicians and junior hematologists about the common presentations and management of GD.

Keywords

• gaucher disease
• glucocerebrosidase
• lysosomal storage disease
• metabolic disorders
• saudi