GOALS: The purpose of this study is to ascertain the incidence of gallstones among adult patients with type 1 Gaucher disease and whether the presence of the UDPGT1 polymorphism (Gilbert syndrome), increases the incidence of gallstones. BACKGROUND: Cholelithiasis was been observed among patients with type I Gaucher disease with variable frequency. Too, studies have addressed the possibility of an association between Gilbert syndrome and formation of bilirubinate gallstones in hereditary spherocytosis wherein, like Gaucher disease, there is hemolysis of blood cell membranes. METHODS: Medical records of all adult patients with type 1 disease in a referral clinic were reviewed for evidence of gallstones or cholecystectomy. Blood samples were collected for molecular analysis for Gilbert syndrome. RESULTS: Of 323 adult patients, 82 patients (25.4%), 54 women (65.9%) and 28 men (34.1%), had evidence of gallbladder disease (P < 0.001 relative to normal white controls). There was a statistically significant increase (P < 0.001) for all groups above the ages of 20 years other than for men aged 40 to 49 years. There was a statistically significant association between splenectomy and both cholelithiasis (P = 0.022) and Gilbert syndrome (P = 0.002). CONCLUSIONS: This study highlights an increase incidence of cholelithiasis but not Gilbert syndrome among patients with Gaucher disease. Storage of glycolipid per se or an immune reaction to storage, may explain these findings.
GOALS: The purpose of this study is to ascertain the incidence of gallstones among adult patients with type 1 Gaucher disease and whether the presence of the UDPGT1 polymorphism (Gilbert syndrome), increases the incidence of gallstones. BACKGROUND:Cholelithiasis was been observed among patients with type I Gaucher disease with variable frequency. Too, studies have addressed the possibility of an association between Gilbert syndrome and formation of bilirubinategallstones in hereditary spherocytosis wherein, like Gaucher disease, there is hemolysis of blood cell membranes. METHODS: Medical records of all adult patients with type 1 disease in a referral clinic were reviewed for evidence of gallstones or cholecystectomy. Blood samples were collected for molecular analysis for Gilbert syndrome. RESULTS: Of 323 adult patients, 82 patients (25.4%), 54 women (65.9%) and 28 men (34.1%), had evidence of gallbladder disease (P < 0.001 relative to normal white controls). There was a statistically significant increase (P < 0.001) for all groups above the ages of 20 years other than for men aged 40 to 49 years. There was a statistically significant association between splenectomy and both cholelithiasis (P = 0.022) and Gilbert syndrome (P = 0.002). CONCLUSIONS: This study highlights an increase incidence of cholelithiasis but not Gilbert syndrome among patients with Gaucher disease. Storage of glycolipid per se or an immune reaction to storage, may explain these findings.