Evaluation of the Relationship Between Jaw Involvement and Systemic Involvement in Type 1 Gaucher Disease

Objective: This study aimed to assess osteopenia and trabeculation loss in the jaws of patients diagnosed with Type 1 Gaucher disease (GD) using cone-beam computed tomography (CBCT) images, unlike the routine computed tomography, and evaluate the correlation of jaw involvement with systemic involvement of GD. Material and Methods: A total of 16 patients, five males and 11 females, who were followed up with the diagnosis of Type I GD were included in the study group. Moreover, 16 age-and sex-matched healthy individuals in the study group were included in the control group. The records of patients at the time of diagnosis were obtained, and the presence of generalized osteopenia of jaws was investigated in the CBCT images, which were taken for maxillofacial examinations. Results: In comparison, the incidence of generalized osteopenia of jaws was significantly higher in the study group than in the control group (p=0.001). In addition, six out of seven patients with hepatomegaly and seven of 11 splenomegaly/operated patients had generalized osteopenia. However, no statistically significant relationship was observed between the presence of hepatomegaly/splenomegaly and generalized osteopenia. In addition, no significant difference was observed among bone involvement, hematological parameters, and jaw involvement in patients with Type 1 GD (p>0.05). Conclusion: Trabecular bone loss and osteopenia increased in Type 1 GD; therefore, patients with Type 1 GD should be evaluated periodically in terms of jaw involvement along with other parameters.