Yale Case Study Indicates Gaucher Disease Patients May Be at Higher Risk for Skeletal Tumors

Yale Case Study Indicates Gaucher Disease Patients May Be at Higher Risk for Skeletal Tumors

According to a recent case study and literature review from Yale University School of Medicine, people with Gaucher disease (GD) could be at higher risk for skeletal tumors. The report, “Case series and literature review of skeletal tumors and their incidence in the Gaucher disease population,” was published in the American Journal of Hematology.

In Gaucher disease, glucocerebroside, which is a type of fatty substance, accumulates in cells and does not get broken down by lysosomes, cellular structures that break down molecules. People with Gaucher disease consequently have fatigue, bruising, anemia, and enlarged organs, among other symptoms. The disease is caused by mutations in the GBA1 gene.

In addition to these problems, people with Gaucher disease may also have an increased risk for bone problems, including bone loss (osteopenia) and skeletal tumors. The article reviewed the case of one man in his 40s who had Gaucher disease and a history of bone and skeletal problems beginning at age 5. By age 40 he developed a skeletal tumor.

A second 55-year-old patient with Gaucher disease also had a tumor that included the hip and bone, with some additional deterioration of the hip (osteonecrosis). Ultimately, the cancer spread to the lung, liver, and spleen, and the patient died. These two cases underscore the possibility of skeletal tumors in Gaucher disease.

The authors said the two cases brought the number of reported cases of skeletal tumors in Gaucher disease to a total of 10, four of which were extremely rare vascular tumors of the bone.

In their published study report, the investigators concluded “Our cases emphasize the importance of vigilance for skeletal lesions that are atypical in Gaucher disease or that become symptomatic and enlarge over time,” the investigators wrote in their study report. “Given the low number of cases and rarity of GD, it is difficult to delineate a cause-effect relation with GD and skeletal malignancies, although the incidence of these tumors seems to be increased.”

Although the relationship between bone remodeling (which occurs throughout life) and Gaucher disease is not yet clear, the report brings up a topic that is of continued interest for research and for clinicians treating patients with Gaucher disease.