Bone involvement in Gaucher disease: Data from a North African registry

Gaucher disease (GD) is characterized by an abnormal accumulation of glucocerebroside in the phagocytic cells due to an enzymatic deficiency in glucocerebrosidase. It is a systemic condition frequently associated with skeletal involvement. Our aim was to evaluate bone involvement (BI) in GD and to assess the impact of specific therapies for GD including enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).

Data at diagnosis and at the final post-treatment follow-up was extracted from the Tunisian GD registry.

Among the 74 included patients 48 had BI (65%), being the third most frequent disease feature. Seventeen patients reported experiencing bone pain crises (23%). Twenty-two patients had elevated alkaline phosphatases (30%), among which, 14 had BI (19%). Standard skeletal X-rays revealed femur deformity in Erlenmeyer flask shape in 4 patients and lytic bone lesions in 2 other patients for whom screening for malignancies was negative. Magnetic resonance imaging of the spine and lower limbs revealed bone marrow infiltration in 19 patients. Aseptic osteonecrosis was identified in 6 patients on MRI (22%). Bone mineral density demonstrated osteoporosis in 7 cases (14%) and osteopenia in 17 others (35%). Specific therapies for GD showed a trend towards improvement of bone pain (velaglucerase alfa) and bone densitometry parameters (velaglucerase alfa and eliglustat) at the final post-treatment follow-up, although formal statistical testing was not feasible due to small and heterogeneous subgroups.

We presented descriptive data on BI derived from the Tunisian national Gaucher disease registry. This manifestation was common in our cohort. The limited size and heterogeneity of the treated subgroups precluded robust statistical comparisons. A major challenge in our setting is the delayed initiation of specific therapies, primarily due to late diagnosis and limited access to treatment.