Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants

• DOI: 10.15403/jgld.2014.1121.254.zim
• Publication Date: 2016-11-28T18:54:03Z
• Authors: Anca Zimmermann; Radu A Popp; Camelia Al-Khzouz; Simona Bucerzan; Ioana Naşcu; Daniel Leucuta; Peter R. Galle; Paula Grigorescu-...
• Keywords: Dyslipidemia; Lipid Profile

Background & Aim: Patients with Gaucher disease type 1 (GD1) show an altered lipid profile and a certain degree of insulin resistance, which might contribute to cholelithiasis (CL) could possibly be associated ABCG5/ABCG8 gene variants. We aimed investigate the prevalence CL in Caucasian adult patients GD1 possible risk factors, including variants genes.
 Methods: 61 (38 female/23male), aged 18-62 years healthy subjects matched for age, gender BMI, without CL, comparison profiles. Data before start enzyme replacement therapy (ERT) were recorded: clinical, haematological, severity parameters, splenectomy, genotype. Fasting profiles ERT, glycemia, insulinaemia, HOMA-IR at last visit documented. Genotyping D19H, Y54C, T400K, A632V (ABCG8); Q604E (ABCG5) was performed.
 Results: occurred 45.9% patients. Risk factors were: family history higher BMI values, LDL-cholesterol (LDL-C), severity, splenectomy. A specific dyslipidemia found vs. controls. Total serum cholesterol (TC) LDL-C than those without; no obvious influence insulin-resistance lithogenesis found. GG genotype D19H CC T400K (ABCG8 gene) had significantly levels TC LDL-C.
 Conclusion: showed increased common disease-specific factors. Starting ERT soon after clinical onset avoiding splenectomy reduce GD1.
 Abbreviations: ABC: ATP-binding cassette; CL: cholelithiasis; ERT: therapy; GBA1: acid-beta-glucosidase gene; GD1: 1; HOMA-IR: homeostasis model-assessment resistance; HDL-C: HDL-cholesterol; LDL-C: LDL-cholesterol; MN: multiples normal; PCR-RFLP: polymerase chain reaction-restriction fragment length polymorphism; SSI: score index; TC: total cholesterol; TG: triglycerides.