Research Article

Gaucher’s disease and liver involvement: A review and our experience

Vitantonio Guglielmi*, Mario Correale and Gioacchino Leandro

Published: 27 November, 2019 | Volume 3 - Issue 1 | Pages: 031-034

Background: This article reviews current knowledge of Gaucher’s disease (GD) and liver involvement and reports our experience: how many patients with chronic liver disease of unknown origin could be affected by Gaucher’s disease.

Patients and methods: Over 24 months, we tested 75 sine causa chronic liver disease patients (30 women and 45 men, mean age 55 years, range 15 to 77).

Results: None of the 75 patients was affected by Gaucher’s disease.

Conclusion: We believe that the chronic liver disease patient is unlikely to be affected by Gaucher’s disease. Probably this disease is to be found in cases of coexistence of hepatic disease and other symptoms of Gaucher’s disease (bone, neurological, bone marrow involvement).

Read Full Article HTML DOI: 10.29328/journal.acgh.1001012 Cite this Article Read Full Article PDF


Gaucher disease; Chronic liver disease; Nonalcoholic fatty liver disease


  1. Zirman A, Elstein D. Lipid storage diseases in: Williams Hematology, 8th ad McGraw-Hill, New York. 2010; 1065-1071.
  2. Grabowski GA, Horowitz M. Gaucher’s disease: molecular, genetic and enzymological aspects. Baillieres Clin. Haematol. 1997; 10: 635-656. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/9497856
  3. Zirman A. How I treat Gaucher disease. Blood, 2011; 118: 1463-1471. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/21670466
  4. Lachmann RH, Wight DG, Lomas DJ, Fisher NC, Schofield JP, et al. Massive hepatic fibrosis in Gaucher’s disease: clinic-pathological and radiological features. QJM. 2000; 93: 237-244.
  5. James SP, Stroymeyer FW, Stowens DW. Gaucher disease: hepatic abnormalities in 25 patients, in: DRJ, S Gatt (Eds), Gaucher disease: A Century of delineation and Research. New York. 1982; 131-142.
  6. James SP, Stroymeyer FW, Chang C, Barranger JA. Liver abnormalities in patients with Gaucher’s disease. Gastroenterology. 1981; 80: 126-133. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/7450398
  7. Perel Y, Bioulac-Sage P, Chateil JF, Trillaud H, Carles J, et al. Gaucher’s disease and fatal hepatic fibrosis despite prolonged enzyme replacement therapy. Pediatrics. 2002; 109: 1170-1173. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/12042560
  8. Mistry PK, Lukina E, Ben Turkia H, Amato D, Baris H, et al. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trila, JAMA. 2015; 313: 695-706. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/25688781
  9. Ficicioglu C. Review of Miglustat for clinical management in Gaucher disease type 1. Ther Clin Risk Manag. 2008; 4: 425-431. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/18728838
  10. Beutler E, Kay A, Saven A, Garver P, Thurston D,  et al. Enzyme replacement therapy for Gaucher disease. Blood. 1991; 78: 1183-1189.
  11. Elstein D, Altarescu G, Maayaan H, Philips M, Abrahamov A, et al. Booster-effect with velaglucerase alfa in patients with Gaucher disease switched from long-term imiglucerase therapy: early access program results from Jerusalem. Blood Cells Mod Dis. 2012; 48: 45-50. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/22047948
  12. Pastores GM, Barnett NL, Kolodny EH. An open-label non comparative study of miglustat in type 1 Gaucher disease: efficacy and tolerability over 24 months of treatment. Cli Ther. 2005; 27: 1215-1227. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/22047948
  13. Aabha N. Gaucher disease. J Clin Exp Hepatol. 2014; 4: 37-50. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/25755533
  14. Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab. 2015; 12: 157-164. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/26604942
  15. Rosenbloom BE, Weinrteb NJ. Gaucher disease: a comprehensive review. Critical reviews in oncogenesis. 2013; 18: 163-175.
  16. Cassineiro E, Graziadei G, Poggiali E. Gaucher disease: a diagnostic challenge for internists. European Journal of Internal Medicine. 2014; 25: 117-124. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/24090739
  17. Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev. 2014; 12: 72-81. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/25345088
  18. Patlas M, Hadas-halpern I, Abrahamov A, Elstein D, Zimran A. Spectrum of abdominal sonographic findings in 103 pediatric patients with gaucher disease. Eur Radiol. 2002; 12: 397-400. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/11870441
  19. Hill SC, Damaska BM, Ling A, Patterson K, Di Bisceglie AM, et al. Gaucher disease: abdominal MR imaging findings in 46 patients. Radiology. 1992; 184: 561-566. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/1620865
  20. Zeqi G, Miaomiao L, Bing H, Xingshun Q. Association of non-alcoholic fatty liver disease with thyroid function: A systemic review and meta-analysis. Digestive and Liver Disease 2018; 50: 1153-1162.
  21. Chalasani N, Younossi Z, Lavine JE. The diagnosis and management of non-alcoholic fatty liver disease: practice guidance from the American Association for the study of Liver Diseases. Hepatology. 2018; 67: 328-357. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/28714183
  22. Pastores GM, Weinereb NJ, Aerts H, Andria G, Cox TM, et al. Therapeutic goals in the treatment of Gaucher disease. Semi Hematol. 2004; 41: 4-14. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/15468045
  23. De Fost M, Vom Dahl S, Weverling GJ, Brill N, Brett S, et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis. 2006; 36: 53-58. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/16246599
  24. Mistry PK. Consequences of diagnostic delays in type 1 Gaucher disease the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007; 82: 697-701. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/17492645
  25. Harmanci O. Gaucher disease: new developments in treatment and etiology. World J Gastroenterol. 2008; 14: 3968-3973. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/18609679
  26. Giraldo P. Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence? J Ineherit Metab Dis. 2011; 34: 781-787. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/21384230
  27. Vom Dahl S. Loss of vision in Gaucher’s disease and its reversal by Enzyme-Replacement Therapy. N Eng J Med. 1998; 338: 1471-1472. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/9583981
  28. Thomas AS. Diagnosing Gaucher disease: an ongoing need for increased awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. A J Hematol. 2007; 82: 697-701.
  29. Huge splenomegaly with pancytopenia due to Gaucher’s desease in 22 years old woman. Mymensingh Med J. 2019; 284: 949-951. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/31599267
  30. Capalbo L. Clinical characteristics of the neurological forms of Gauchers’s disease. Med Clin (Barc). 2011; 137: 6-11.
  31. Baldini M. Skeletal involvement in type 1 Gaucher disease: Not just bone mineral density. Blood cells Mol Dis. 2018; 68: 148-152. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/28693786


Figure 1

Figure 1

Similar Articles

Recently Viewed

Read More

Most Viewed

Read More