Hyperuricaemia in type 1 Gaucher disease: is uric acid a biomarker for disease severity?

Elevated serum uric acid (SUA) levels were observed in Gaucher disease type 1 (GD1) patients followed for two decades in northern Israel. There are no previous reports regarding hyperuricaemia in GD1 patients.

We aimed to evaluate the frequency of hyperuricaemia in GD1 patients and its correlation to disease severity, lymphoproliferative neoplasms and other malignancies.

Clinical and laboratory data of 69 GD1 patients, 25 treatment-naïve and 44 on enzyme replacement therapy (ERT), were evaluated for SUA levels, biomarkers and the presence of lymphoproliferative neoplasms and other malignancies.

In 36 females and 33 males, the mean age was 51.6 ± 16.2 years, and the mean severity score index was 8.94. SUA levels were significantly higher in patients with severe disease compared to patients with mild disease. ERT had no significant effect on SUA levels. A linear correlation between SUA levels and disease severity was found. A linear correlation was also detected between acid phosphatase (AP) levels and SUA. Among patients with severe disease, 11% presented with a lymphoproliferative neoplasm, compared to 4% in patients with mild disease. A statistically significant difference in malignancy frequency between the two patient groups was not found.

SUA levels are significantly elevated in severe GD1 patients and correlate with AP levels. AP was used in GD as a clinical biomarker, especially tartrate-resistant acid phosphatase, which reflects GD macrophage activity and inflammation status, thus associated with disease severity. No correlation between SUA levels and lymphoproliferative neoplasms was found. SUA levels may be helpful in estimating Gaucher cell burden and GD1 severity.