Hemorrhagic Aspects of Gaucher Disease
Gaucher disease (GD) is an inherited lysosomal disorder, originating from deficient activity of the lysosomal enzyme glucocerebrosidase (GCase). Normally, GCase hydrolyzes glucocerebroside (GC) to glucose and ceramide; however, impaired activity of this enzyme leads to the accumulation of GC in macr...
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| Format: | Article |
| Language: | English |
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Rambam Health Care Campus
2014-10-01
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| Series: | Rambam Maimonides Medical Journal |
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| Online Access: | http://rmmj.org.il/Pages/ArticleHTM.aspx?manuId=451 |
| _version_ | 1818498077795811328 |
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| author | Hanna Rsenbaum |
| author_facet | Hanna Rsenbaum |
| author_sort | Hanna Rsenbaum |
| collection | DOAJ |
| description | Gaucher disease (GD) is an inherited lysosomal disorder, originating from deficient activity of the lysosomal enzyme glucocerebrosidase (GCase). Normally, GCase hydrolyzes glucocerebroside (GC) to glucose and ceramide; however, impaired activity of this enzyme leads to the accumulation of GC in macrophages, termed “Gaucher cells.” Gaucher disease is associated with hepatosplenomegaly, cytopenias, skeletal complications and in some forms involves the central nervous system.
Coagulation abnormalities are common among GD patients due to impaired production and chronic consumption of coagulation factors. Bleeding phenomena are variable (as are other symptoms of GD) and include mucosal and surgical hemorrhages.
Four main etiological factors account for the hemostatic defect in GD: thrombocytopenia, abnormal platelet function, reduced production of coagulation factors, and activation of fibrinolysis. Thrombocytopenia relates not only to hypersplenism and decreased megakaryopoiesis by the infiltrated bone marrow but also to immune thrombocytopenia. Autoimmunity, especially the induction of platelet antibody production, might cause persistent thrombocytopenia.
Enzyme replacement therapy reverses only part of the impaired coagulation system in Gaucher disease. Other therapeutic and supportive measures should be considered to prevent and/or treat bleeding in GD.
Gaucher patients should be evaluated routinely for coagulation abnormalities especially prior to surgery and dental and obstetric procedures. |
| first_indexed | 2024-12-10T18:53:26Z |
| format | Article |
| id | doaj.art-412cd692dde14af4a2f9db9466e0e409 |
| institution | Directory Open Access Journal |
| issn | 2076-9172 |
| language | English |
| last_indexed | 2024-12-10T18:53:26Z |
| publishDate | 2014-10-01 |
| publisher | Rambam Health Care Campus |
| record_format | Article |
| series | Rambam Maimonides Medical Journal |
| spelling | doaj.art-412cd692dde14af4a2f9db9466e0e4092022-12-22T01:37:15ZengRambam Health Care CampusRambam Maimonides Medical Journal2076-91722014-10-0154e003910.5041/RMMJ.10173Hemorrhagic Aspects of Gaucher DiseaseHanna Rsenbaum0Department of Hematology and Bone Marrow Transplantation, Rambam Health Care Campus, Haifa, Israel and Bruce Rappaport Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, IsraelGaucher disease (GD) is an inherited lysosomal disorder, originating from deficient activity of the lysosomal enzyme glucocerebrosidase (GCase). Normally, GCase hydrolyzes glucocerebroside (GC) to glucose and ceramide; however, impaired activity of this enzyme leads to the accumulation of GC in macrophages, termed “Gaucher cells.” Gaucher disease is associated with hepatosplenomegaly, cytopenias, skeletal complications and in some forms involves the central nervous system. Coagulation abnormalities are common among GD patients due to impaired production and chronic consumption of coagulation factors. Bleeding phenomena are variable (as are other symptoms of GD) and include mucosal and surgical hemorrhages. Four main etiological factors account for the hemostatic defect in GD: thrombocytopenia, abnormal platelet function, reduced production of coagulation factors, and activation of fibrinolysis. Thrombocytopenia relates not only to hypersplenism and decreased megakaryopoiesis by the infiltrated bone marrow but also to immune thrombocytopenia. Autoimmunity, especially the induction of platelet antibody production, might cause persistent thrombocytopenia. Enzyme replacement therapy reverses only part of the impaired coagulation system in Gaucher disease. Other therapeutic and supportive measures should be considered to prevent and/or treat bleeding in GD. Gaucher patients should be evaluated routinely for coagulation abnormalities especially prior to surgery and dental and obstetric procedures.http://rmmj.org.il/Pages/ArticleHTM.aspx?manuId=451Enzyme replacement therapyGaucher diseaseglucocerebrosidehemostatic abnormalities |
| spellingShingle | Hanna Rsenbaum Hemorrhagic Aspects of Gaucher Disease Rambam Maimonides Medical Journal Enzyme replacement therapy Gaucher disease glucocerebroside hemostatic abnormalities |
| title | Hemorrhagic Aspects of Gaucher Disease |
| title_full | Hemorrhagic Aspects of Gaucher Disease |
| title_fullStr | Hemorrhagic Aspects of Gaucher Disease |
| title_full_unstemmed | Hemorrhagic Aspects of Gaucher Disease |
| title_short | Hemorrhagic Aspects of Gaucher Disease |
| title_sort | hemorrhagic aspects of gaucher disease |
| topic | Enzyme replacement therapy Gaucher disease glucocerebroside hemostatic abnormalities |
| url | http://rmmj.org.il/Pages/ArticleHTM.aspx?manuId=451 |
| work_keys_str_mv | AT hannarsenbaum hemorrhagicaspectsofgaucherdisease |