Hematological manifestations and complications of Gaucher disease

Expert Review of Hematology

Volumn 9, Issue 1, 2016, Pages 51-58

  Linari, Silvia ^a   Castaman, Giancarlo ^a  

^a CAREGGI UNIVERSITY HOSPITAL   (Italy)

Author keywords

Activated macrophage; Bleeding; Enzyme replacement therapy; Gaucher disease; Glucosylceramide; Hypergammaglobulinemia; Multiple myeloma; Splenomegaly; Substrate reduction therapy

Indexed keywords

BLOOD CLOTTING FACTOR; CYTOKINE; GLUCOSYLCERAMIDE;

ANEMIA; B CELL LYMPHOMA; B LYMPHOCYTE; BLEEDING TENDENCY; CHRONIC INFLAMMATION; CLINICAL TRIAL (TOPIC); ENZYME REPLACEMENT; GAMMOPATHY; GAUCHER DISEASE; HEMATOLOGIC MALIGNANCY; HUMAN; MACROPHAGE; MULTIPLE MYELOMA; PANCYTOPENIA; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN SECRETION; REVIEW; SPLENOMEGALY; THROMBOCYTE COUNT; THROMBOCYTE FUNCTION; THROMBOCYTOPENIA; COMPLICATION; HEMATOLOGIC DISEASES;

GAUCHER DISEASE; HEMATOLOGIC DISEASES; HUMANS;

EID: 84946882039     PISSN: 17474086     EISSN: 17474094     Source Type: Journal    
DOI: 10.1586/17474086.2016.1112732     Document Type: Review

References (71)

1. Grabowski GA. Gaucher disease and other storage disorders. Hematology Am Soc Hematol Educ Program. 2012;2012:13-18. DOI:10.1182/asheducation-2012.1.13.
2. Parkin J, Brunning R. The pathology of the Gaucher cell. In: Desnick R, Gatt S, Grabowski GA, editors. Gaucher disease: a century of delineation and research. New York (NY): Alan R Liss; 1982. p. 151.
3. Barak V, Acker M, Nisman B, et al. Cytokines in Gaucher's disease. Eur Cytokine Netw. 1999;10(2):205-210.
4. Hollak CE, Van Weely S, Van Oers MH, et al. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest. 1994;93:1288-1292.
5. Allen MJ, Myer BJ, Khokher AM, et al. Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. QJM. 1997;90:19-25.
6. Michelakakis H, Spanou C, Kondyli A, et al. Plasma tumor-necrosis factor -A (TNF-a) levels in Gaucher disease. Biochim Biophys Acta. 1996;1317:219-222.
7. Hollak CE, Evers L, Aerts JM, et al. Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease. Blood Cells Mol Dis. 1997;23:201-212.
8. Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med. 1998;158:1754-1760.
9. Horowitz M, Pasmanik-Chor M, Borochowitz Z, et al. Prevalence of glucocerebrosidase mutations in the Isreali Ashkenazi population. Hum Mutat. 1998;12:240-244.
10. Mistry PK, Sadan S, Yang R, et al. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologistsoncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007;82:697-701. • Emphasizes the importance of early diagnosis in type 1 Gaucher disease, to prevent the onset of irreversible complications
11. Hughes D, Cappellini MD, Berger M, et al. Recommendations for the management of the haematological and oncohaematological aspects of Gaucher disease. Br J Haematol. 2007;138:676-686. •• Represents an international consensus on recommendations for diagnosis and treatment of hematological complications in Gaucher disease
12. Thomas AS, Metha AB, Hughes DA. Diagnosing Gaucher disease: an ongoing need for increased awareness amongst haematologists. Blood Cells Mol Dis. 2013;50:212-217.
13. Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease - diagnosis and disease management algorithms. Am J Hematol. 2011;86:110-115.
14. Di Rocco M, Andria G, Deodato F, et al. Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm. Pediatr Blood Cancer. 2014;61(11):1905-1909.
15. Beutler E, Nguyen NJ, Henneberger MW, et al. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet. 1993;52(1):85-88.
16. Dionisi-Vici C, Rizzo C, Burlina AB, et al. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr. 2002;140(3):321-327.
17. Goker-Alpan O, Schiffmann R, Park JK. Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr. 2003;143:273-276.
18. Charrow J, Andersson HC, Kaplan P, et al. The Gaucher Registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160:1754-1760.
19. Futerman AH, Zimran A, editors. Gaucher disease. Boca Raton (FL): Taylor & Francis Group; 2007.
20. Kaplan P, Andersson HC, Kacena KA, et al. The clinical and demographic characteristics of non neuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006;160(6):603-608.
21. Mistry PK, Weinreb NJ, Kaplan P, et al. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis. 2011;46(1):66-72.
22. Mistry PK, Sirrs S, Chan A, et al. Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab. 2002;77:91-98.
23. Erikson A, Bembi B, Schiffmann R. Neuronopathic forms of Gaucher's disease. In: Zimran A, editor. Gaucher's disease. Vol. 10. London: Bailliere Tindall; 1997. p. 711-723.
24. Schapira AH. Glucocerebrosidase and Parkinson disease: recent advances. Mol Cell Neurosci. 2015;66:37-42.
25. Thomas AS, Metha A, Hughes DA. Gaucher disease: haematological presentations and complications. Br J Haematol. 2014;165:427-440.
26. Elstein D, Abrahamov A, Hadas-Halpem I, et al. Gaucher's disease. Lancet. 2001;358(9278):324-327.
27. Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002;113:112-119.
28. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41:4-14.
29. Wenstrup RJ, Kacena KA, Kaplan P, et al. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res. 2007;22:119-126.
30. Gielchinsky Y, Elstein D, Green R, et al. High prevalence of low serum vitamin B12 in a multiethnic Israeli population. Br J Haematol. 2001;115:707-709.
31. Stein P, Yu H, Jain D, et al. Hyperferritinemia and iron overload in type 1 Gaucher disease. Am J Hematol. 2010;85:472-476.
32. Mitrovic M, Antic D, Elezovic I, et al. Haemostatic abnormalities in treatmentnaïve patients with type 1 Gaucher's disease. Platelets. 2012;23(2):143-149. • Points out the different hemostatic mechanisms involved in bleeding diathesis in Gaucher disease
33. Givol N, Goldstein G, Peleg O, et al. Thrombocytopenia and bleeding in dental procedures of patients with Gaucher disease. Haemophilia. 2012;18:117-121.
34. Granovsky-Grisaru S, Belmatoug N, Vom Dahl S, et al. The management of pregnancy in Gaucher disease. Eur J Obstet Gynecol Reprod Biol. 2011;156:3-8.
35. Spectre G, Roth B, Ronen G, et al. Platelet adhesion defect in type 1 Gaucher disease is associated with risk of mucosal bleeding. Br J Haematol. 2011;153:372-378.
36. Gillis S, Hyam E, Abrahamov A, et al. Platelet function abnormalities in Gaucher patients. Am J Hematol. 1999;61:103-106.
37. Hollak CE, Levi M, Berends F, et al. Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy. Br J Haematol. 1997;96:470-476.
38. Parker RI, Grewal RP, McKeown LP, et al. Effect of platelet count on the DDAVP-induced shortening of bleeding time in thrombocytopenic Gaucher's patients. Am J Pediatr Hematol Oncol. 1992;14:39-43.
39. Zimran A, Elstein D, Abrahamov A, et al. Significance of abnormal neutrophil chemotaxis in Gaucher's disease. Blood. 1994;84:2374-2375.
40. Marodi L, Kaposzta R, Toth J, et al. Impaired microbicidal capacity of type 1 Gaucher disease: partial correction by enzyme replacement therapy. Blood. 1995;86:4645-4649.
41. Marti GE, Ryan ET, Papadopoulos NM, et al. Polyclonal B-cell lymphocytosis and hypergammaglobulinemia in patients with Gaucher disease. Am J Hematol. 1988;29(4):189-194.
42. Brautbar A, Elstein D, Pines G, et al. Effect of enzyme replacement therapy on gammopathies in Gaucher disease. Blood Cells Mol Dis. 2004;32(1):214-217.
43. Shoenfeld Y, Beresovski A, Zharhary D, et al. Natural autoantibodies in sera of patients with Gaucher's disease. J Clin Immunol. 1995;15(6):363-372.
44. De Fost M, Out TA, De Wilde FA, et al. Immunoglobulin and free light chain abnormalities in Gaucher disease type 1: data from an adult cohort of 63 patients and review of the literature. Ann Hematol. 2008;87:439-449.
45. Kyle RA, Therneau TM, Rajkumar SV, et al. A long-term study of prognosis in monoclonal gammopathy of undetermined significance. N Engl J Med. 2002;346:564-569.
46. Rosenbloom BE, Weinreb NJ, Zimran A, et al. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood. 2005;105(12):4569-4572. •• Based on data from 2742 patients enrolled in the Gaucher Registry, suggests that, in general, patients are not at highly increased risk of cancer, other than multiple myeloma
47. Rajkumar SV. MGUS and smouldering multiple myeloma: update on pathogenesis, natural history and management. In: ASH education program book. Atlanta (GA): Hematology; 2005 Dec. 10-13. p. 341-345. Washington (DC): ASH.
48. Bommert K, Bargou RC, Stuhmer T. Signalling and survival pathways in multiple myeloma. Eur J Cancer. 2006;42:1574-1580.
49. De Fost M, Von Dahl S, Weverling GJ, et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis. 2006;36:53-58.
50. Arends M, Van Dussen L, Biegstraaten M, et al. Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature. Br J Haematol. 2013;161(6):832-842. •• Highlights the association between Gaucher disease and malignancies, in particular monoclonal gammopathy
51. Boot RG, Verhoek M, De Fost M, et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood. 2004;103:33-39.
52. Hannum Y, Obeid L. Principles of bioactive lipid signalling: lessons from sphingolipids. Nat Rev Mol Cell Biol. 2008;9:139-150.
53. Barth BM, Shanmugavelandy SS, Tacelosky DM, et al. Gaucher's disease and cancer: a sphingolipid perspective. Crit Rev Oncog. 2013;18(3):221-234.
54. Nair S, Boddupalli CS, Verma R, et al. Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation. Blood. 2015;125:1256-1271.
55. Pavlova EV, Archer J, Wang SZ, et al. Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy. J Pathol. 2015;235:113-124.
56. Taddei TH, Kacena KA, Yang M, et al. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol. 2009;84:208-214.
57. Mistry P, Taddei T, Vom Dahl S, et al. Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism. Crit Rev Oncog. 2013;18:235-246. •• Analyzes the possible pathogenetic mechanisms of oncogenesis due to the accumulation of sphingolipids
58. Lo SM, Choi M, Liu J, et al. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood. 2012;119:4731-4740.
59. Cox TM, Rosenbloom BE, Barker RA. Gaucher disease and comorbidities: B-cell malignancy and parkinsonism. Am J Hematol. 2015;90:S25-S28.
60. Weinreb NJ, Goldblatt J, Villalobos J, et al. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis. 2013;36(3):543-553.
61. Cox T, Lachmann R, Hollack CE, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet. 2000;355(9214):1481-1485.
62. Mistry PK, Lukina E, Ben Turkia H, et al. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA. 2015;313(7):695-709.
63. Cox TM, Drelichman G, Cravo R, et al. Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilized on enzyme replacement therapy: a phase 3, randomized, open-label, non-inferiority trial. Lancet. 2015;385:2355-2362.
64. McEachern KA, Fung J, Komarnitsky S, et al. A specific and potent inhibitor of glucosylceramide synthase for substrate reduction therapy of Gaucher disease. Mol Genet Metab. 2007;91:259-267.
65. Hollak CE, Belmatoug N, Cole JA, et al. Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years. Br J Haematol. 2012;158:528-538.
66. Stein P, Malhotra A, Haims A, et al. Focal splenic lesions in type 1 Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy. J Inherit Metab Dis. 2010;33:769-774.
67. Zimran A. How I treat Gaucher disease. Blood. 2011;118(6):1463-1471.
68. Shemesh E, Deroma L, Bembi B, et al. Enzyme replacement and substrate reduction therapy for Gaucher disease. Cochrane Database Syst Rev. 2015 Mar. 27;3:CD010324. DOI:10.1002/14651858. CD010324.pub2.
69. Fan JQ. A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. Trends Pharmacol Sci. 2003;24:355-360.
70. Steet RA, Chung S, Wustman B, et al. The iminosugarisofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms. PNAS. 2006;103:13813-13818.
71. Zimran A, Altarescu G, Elstein D. Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease. Blood Cells Mol Dis. 2013;50:134-137.