Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion

Gaucher disease (GD), an autosomal recessive, lysosomal storage disorder, is caused due to mutations in the glucocerebrosidase (GBA) gene. GD can occur at any age and is classified as type 1 (non-neurologic), type 2 (infantile form, with acute early neurologic manifestation), and type 3 (subacute/chronic neuropathic form). The rarity of the disease and its overlapping symptoms with other diseases increase the delay in diagnosis. The Egyptian cohort of patients with GD is specifically different regarding the prevalence of type 3 as well as the severity and progression of the disease. The unavailability of precise diagnostic tests and lack of awareness among clinicians are the current challenges associated with diagnosing and managing GD in Egypt. An expert panel meeting was convened with 19 experts from Egypt to address the current unmet challenges in the diagnosis and management of GD from the region and to develop country-specific diagnostic algorithms based on the existing literature for pediatric and adult groups. In addition, management strategies and preventive measures were also discussed. The algorithms presented in this review can be implemented in clinical practice for the timely diagnosis of patients with GD in Egypt. Early diagnosis is crucial in selecting the best treatment for patients with GD, and evidence suggests that early initiation of therapy can result in better outcomes. The evidence-based expert opinion presented in this review will help clinicians in the early initial diagnosis of GD in Egypt, leading to appropriate management of the disease.