Gaucher Disease for Hematologists
Gaucher disease (GD) is a rare hereditary lysosomal storage disease that arises due to deficiency of glucocerebrosidase. Early diagnosis is very important for starting proper treatment and preventing complications. Splenomegaly, anemia, and thrombocytopenia are the most common findings in GD and so...
| Published in: | Turkish Journal of Hematology |
|---|---|
| Main Authors: | , |
| Format: | Article |
| Language: | English |
| Published: |
Turkish Society of Hematology
2022-05-01
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| Subjects: | |
| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-89983 |
| _version_ | 1848651572956889088 |
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| author | Gül Nihal Özdemir Eren Gündüz |
| author_facet | Gül Nihal Özdemir Eren Gündüz |
| author_sort | Gül Nihal Özdemir |
| collection | DOAJ |
| container_title | Turkish Journal of Hematology |
| description | Gaucher disease (GD) is a rare hereditary lysosomal storage disease that arises due to deficiency of glucocerebrosidase. Early diagnosis is very important for starting proper treatment and preventing complications. Splenomegaly, anemia, and thrombocytopenia are the most common findings in GD and so most patients are initially referred to hematologists. The Turkish Society of Hematology established its Rare Hematological Diseases Subcommittee in 2015. One of the main topics of this subcommittee was to increase and improve awareness and education of rare diseases among hematologists in Turkey. This review presents GD with an overview of its clinical features, pathophysiology, and treatment options for hematologists. |
| format | Article |
| id | doaj-e406d9bbdd8045f7a16f66f90bfa6b75 |
| institution | Directory of Open Access Journals |
| issn | 1308-5263 |
| language | English |
| publishDate | 2022-05-01 |
| publisher | Turkish Society of Hematology |
| record_format | Article |
| spelling | doaj-e406d9bbdd8045f7a16f66f90bfa6b752025-11-03T00:31:34ZengTurkish Society of HematologyTurkish Journal of Hematology1308-52632022-05-0139213613910.4274/tjh.galenos.2022.2021.0683TJH-89983Gaucher Disease for HematologistsGül Nihal Özdemir0Eren Gündüz1İstinye University Faculty of Medicine, Department of Pediatric Hematology Oncology, İstanbul, TurkeyEskisehir Osmangazi University Faculty of Medicine, Department of Hematology, Eskişehir, TurkeyGaucher disease (GD) is a rare hereditary lysosomal storage disease that arises due to deficiency of glucocerebrosidase. Early diagnosis is very important for starting proper treatment and preventing complications. Splenomegaly, anemia, and thrombocytopenia are the most common findings in GD and so most patients are initially referred to hematologists. The Turkish Society of Hematology established its Rare Hematological Diseases Subcommittee in 2015. One of the main topics of this subcommittee was to increase and improve awareness and education of rare diseases among hematologists in Turkey. This review presents GD with an overview of its clinical features, pathophysiology, and treatment options for hematologists.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-89983gaucher diseaseanemiathrombocytopeniasplenomegaly |
| spellingShingle | Gül Nihal Özdemir Eren Gündüz Gaucher Disease for Hematologists gaucher disease anemia thrombocytopenia splenomegaly |
| title | Gaucher Disease for Hematologists |
| title_full | Gaucher Disease for Hematologists |
| title_fullStr | Gaucher Disease for Hematologists |
| title_full_unstemmed | Gaucher Disease for Hematologists |
| title_short | Gaucher Disease for Hematologists |
| title_sort | gaucher disease for hematologists |
| topic | gaucher disease anemia thrombocytopenia splenomegaly |
| url | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-89983 |
| work_keys_str_mv | AT gulnihalozdemir gaucherdiseaseforhematologists AT erengunduz gaucherdiseaseforhematologists |