Decreased salivary output in patients with Gaucher disease.

Summary Background: Gaucher disease, the most common sphingolipid storage disease, results in accumulation of glucocerebroside in macrophages or ‘Gaucher cells’. In a preliminary screening of 109 patients with type I disease, when asked specifically about dry mouth, approximately one quarter claimed to suffer from this symptom. Aim: To ascertain whether decreased salivary output is a feature of Gaucher disease. Design: Prospective case-control study. Methods: Salivary output was measured in 65 adult patients and 65 healthy controls using the Saxon test with Hochberg’s modification. Results: Mean salivary output was 1.91"1.19 g/ min in the patient group vs. 2.74"1.17 g/min in the control group (p-0.001). This difference was greater among males. These results were not improved in the patients receiving enzyme replacement therapy, which is effective in ameliorating most Gaucher-related signs and symptoms. Discussion: Recent studies have implicated an association between sicca syndrome and viral hepatitis C infection, which may imply an immunological trigger for these findings, but in this specific cohort, only three patients were reactive for hepatitis C. Follow-up of patients, both untreated and receiving enzyme therapy, is needed to delineate the association with salivary hypofunction, and ascertain whether enzyme therapy may induce sicca symptoms.