LAUSR

Gaucher Disease (GD) is a lysosomal storage disease characterized by hepatosplenomegaly, pulmonary disease, fatigue, and bone pain and crises. While most physicians show primary concern with visceral and hematologic symptoms, patients report interest in decreasing fatigue and pain, which has an effect on quality of life. Generalized joint hypermobility (GJH) is characterized by joint laxity and increased joint range, and affect levels of both pain and fatigue. The relationship in patients with GD between chronic pain, residual fatigue, and GJH was investigated. Participants with GD Type 1 performed a Beighton Score and five-part questionnaire to meet diagnostic criteria for GJH. The Brief Pain Inventory (BPI) and Fatigue Severity Scale (FSS) were used to assess pain and fatigue. Therapeutic goals and the Disease Severity Scoring System (DS3) evaluated treatment goals and disease involvement. 33% of our population (4/12) met GJH criteria. Of those with GJH, 50% expressed moderate pain severity and 25% reported moderate pain interference, compared to 12.5% and 0% without GJH. 50% of both groups reported severe fatigue. There was a strong positive correlation between reported values of pain severity, pain interference, and fatigue. Participants met a median of 96.3% of Gaucher-related therapeutic goals. In those with GJH versus those without GJH, 50% and 57.1%, respectively, had “mild disease” involvement. We did not see significant changes in the levels of pain and fatigue between the two groups of participants, but the study did reinforce those who report higher levels of pain severity and interference also report high levels of fatigue, regardless of a GJH diagnosis. Someone with high levels of pain may need anticipatory management for fatigue. Our patients were well-managed and met many therapeutic goals, which may account for the levels of pain and fatigue reported. Future studies recommended include larger, more generalizable studies for GD and GJH.