Hereditary Afibrinogenemia: Rare Bleeding Disorder Presenting with Spontaneous Extradural Hematoma – A Brief Review
Abstract Afibrinogenemia is considered as rare hereditary bleeding disorder with autosomal recessive genetic transmission, caused by mutations of any one out of the three genes located on chromosome 4, responsible for coding of three polypeptide chains, constituents of fibrinogen. Clinical manifesta...
| 出版年: | Indian Journal of Neurosurgery |
|---|---|
| 主要な著者: | , |
| フォーマット: | 論文 |
| 言語: | 英語 |
| 出版事項: |
Thieme Medical and Scientific Publishers Pvt. Ltd.
2016-02-01
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| 主題: | |
| オンライン･アクセス: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0036-1572373 |
| _version_ | 1849667179410096128 |
|---|---|
| author | Guru Dutta Satyarthee Ashok K. Mahapatra |
| author_facet | Guru Dutta Satyarthee Ashok K. Mahapatra |
| author_sort | Guru Dutta Satyarthee |
| collection | DOAJ |
| container_title | Indian Journal of Neurosurgery |
| description | Abstract
Afibrinogenemia is considered as rare hereditary bleeding disorder with autosomal recessive genetic transmission, caused by mutations of any one out of the three genes located on chromosome 4, responsible for coding of three polypeptide chains, constituents of fibrinogen. Clinical manifestation include spontaneous bleeding, bleeding following trivial trauma, and excessive profuse bleeding during major trauma constitute commoner manifestations. Replacement therapy remains main treatment of bleeding episodes using plasma-derived fibrinogen concentrate. However, fresh frozen plasma and cryoprecipitate, recombinant fibrinogens are considered as alternative treatment options. The authors reports a 2-year-old girl, diagnosed as case of hypofibrinogenemia since birth and was under regular supervision of pediatric hematologist, getting fresh frozen plasma replacement therapy every third weeks, developed extradural hematoma and was managed surgically with good outcome. |
| format | Article |
| id | doaj-art-cb0a58aa5bc04b9586c0fc54bbbbba79 |
| institution | Directory of Open Access Journals |
| issn | 2277-954X 2277-9167 |
| language | English |
| publishDate | 2016-02-01 |
| publisher | Thieme Medical and Scientific Publishers Pvt. Ltd. |
| record_format | Article |
| spelling | doaj-art-cb0a58aa5bc04b9586c0fc54bbbbba792025-08-20T02:19:48ZengThieme Medical and Scientific Publishers Pvt. Ltd.Indian Journal of Neurosurgery2277-954X2277-91672016-02-01050102202410.1055/s-0036-1572373Hereditary Afibrinogenemia: Rare Bleeding Disorder Presenting with Spontaneous Extradural Hematoma – A Brief ReviewGuru Dutta Satyarthee0Ashok K. Mahapatra1Department of Neurosurgery, All India Institute of Medical Science, New Delhi, IndiaDepartment of Neurosurgery, All India Institute of Medical Science, Bhuvneshwar, IndiaAbstract Afibrinogenemia is considered as rare hereditary bleeding disorder with autosomal recessive genetic transmission, caused by mutations of any one out of the three genes located on chromosome 4, responsible for coding of three polypeptide chains, constituents of fibrinogen. Clinical manifestation include spontaneous bleeding, bleeding following trivial trauma, and excessive profuse bleeding during major trauma constitute commoner manifestations. Replacement therapy remains main treatment of bleeding episodes using plasma-derived fibrinogen concentrate. However, fresh frozen plasma and cryoprecipitate, recombinant fibrinogens are considered as alternative treatment options. The authors reports a 2-year-old girl, diagnosed as case of hypofibrinogenemia since birth and was under regular supervision of pediatric hematologist, getting fresh frozen plasma replacement therapy every third weeks, developed extradural hematoma and was managed surgically with good outcome.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0036-1572373afibrinogenemiafresh frozen plasmarare bleeding disordersextradural hematoma |
| spellingShingle | Guru Dutta Satyarthee Ashok K. Mahapatra Hereditary Afibrinogenemia: Rare Bleeding Disorder Presenting with Spontaneous Extradural Hematoma – A Brief Review afibrinogenemia fresh frozen plasma rare bleeding disorders extradural hematoma |
| title | Hereditary Afibrinogenemia: Rare Bleeding Disorder Presenting with Spontaneous Extradural Hematoma – A Brief Review |
| title_full | Hereditary Afibrinogenemia: Rare Bleeding Disorder Presenting with Spontaneous Extradural Hematoma – A Brief Review |
| title_fullStr | Hereditary Afibrinogenemia: Rare Bleeding Disorder Presenting with Spontaneous Extradural Hematoma – A Brief Review |
| title_full_unstemmed | Hereditary Afibrinogenemia: Rare Bleeding Disorder Presenting with Spontaneous Extradural Hematoma – A Brief Review |
| title_short | Hereditary Afibrinogenemia: Rare Bleeding Disorder Presenting with Spontaneous Extradural Hematoma – A Brief Review |
| title_sort | hereditary afibrinogenemia rare bleeding disorder presenting with spontaneous extradural hematoma a brief review |
| topic | afibrinogenemia fresh frozen plasma rare bleeding disorders extradural hematoma |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0036-1572373 |
| work_keys_str_mv | AT guruduttasatyarthee hereditaryafibrinogenemiararebleedingdisorderpresentingwithspontaneousextraduralhematomaabriefreview AT ashokkmahapatra hereditaryafibrinogenemiararebleedingdisorderpresentingwithspontaneousextraduralhematomaabriefreview |