Factor V Deficiency Associated with Congenital Cardiac Disorder and Intracranial Hemorrage
Factor V deficiency is an inherited disorder, in which the clotting factor V is low. The disorder is very rare, occurring in only one in one million people. It is inherited as an autosomal recessive disorder. The results of coagulation studies include a prolonged prothrombin time and partial thrombo...
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| Published in: | Indian journal of hematology & blood transfusion Vol. 29; no. 2; pp. 99 - 101 |
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| Format: | Journal Article |
| Language: | English |
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01-06-2013
Springer Nature B.V |
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| Abstract | Factor V deficiency is an inherited disorder, in which the clotting factor V is low. The disorder is very rare, occurring in only one in one million people. It is inherited as an autosomal recessive disorder. The results of coagulation studies include a prolonged prothrombin time and partial thromboplastin time associated with reduced plasma factor V content. Patients with factor V deficiency have a hemophiliac like hemorrhagic disorder. Epistaxis, bruising, and menorrhagia are some of the common features. If treatment is needed, fresh frozen plasma is typically given. In this report we present a 12 year old girl who was admitted to our clinic with recurrent nosebleeds and intracranial hemorrage after head trauma. After examination, factor V deficiency was diagnosed. She also had congenital cardiac disorder (VSD), probably a co-incidental finding. |
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| AbstractList | Factor V deficiency is an inherited disorder, in which the clotting factor V is low. The disorder is very rare, occurring in only one in one million people. It is inherited as an autosomal recessive disorder. The results of coagulation studies include a prolonged prothrombin time and partial thromboplastin time associated with reduced plasma factor V content. Patients with factor V deficiency have a hemophiliac like hemorrhagic disorder. Epistaxis, bruising, and menorrhagia are some of the common features. If treatment is needed, fresh frozen plasma is typically given. In this report we present a 12 year old girl who was admitted to our clinic with recurrent nosebleeds and intracranial hemorrage after head trauma. After examination, factor V deficiency was diagnosed. She also had congenital cardiac disorder (VSD), probably a co-incidental finding. Factor V deficiency is an inherited disorder, in which the clotting factor V is low. The disorder is very rare, occurring in only one in one million people. It is inherited as an autosomal recessive disorder. The results of coagulation studies include a prolonged prothrombin time and partial thromboplastin time associated with reduced plasma factor V content. Patients with factor V deficiency have a hemophiliac like hemorrhagic disorder. Epistaxis, bruising, and menorrhagia are some of the common features. If treatment is needed, fresh frozen plasma is typically given. In this report we present a 12 year old girl who was admitted to our clinic with recurrent nosebleeds and intracranial hemorrage after head trauma. After examination, factor V deficiency was diagnosed. She also had congenital cardiac disorder (VSD), probably a co-incidental finding. |
| Author | Akcan, A. Barıs Akcan, Mediha Kul, Mustafa Aydemir, Gökhan Özkaya, Halit |
| Author_xml | – sequence: 1 givenname: Halit surname: Özkaya fullname: Özkaya, Halit organization: Department of Pediatrics, GATA Haydarpaşa Teaching Hospital, Uskudar – sequence: 2 givenname: A. Barıs surname: Akcan fullname: Akcan, A. Barıs email: barisakc@hotmail.com organization: Department of Pediatrics, GATA Haydarpaşa Teaching Hospital, Uskudar – sequence: 3 givenname: Gökhan surname: Aydemir fullname: Aydemir, Gökhan organization: Department of Pediatrics, GATA Haydarpaşa Teaching Hospital, Uskudar – sequence: 4 givenname: Mediha surname: Akcan fullname: Akcan, Mediha organization: Department of Pediatrics, Division of Pediatric Hemotology and Oncology, Akdeniz University – sequence: 5 givenname: Mustafa surname: Kul fullname: Kul, Mustafa organization: Department of Pediatrics, GATA Haydarpaşa Teaching Hospital, Uskudar |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/24426348$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1002/ajh.21741 10.1055/s-0029-1225760 10.1046/j.1365-2141.2000.02456.x 10.1111/j.1365-2516.2004.00944.x 10.1016/j.thromres.2009.11.003 10.1111/j.1365-2516.2008.01785.x 10.1097/00043426-200105000-00013 10.1182/blood.V98.2.358 10.1007/s004310050993 10.1186/1471-2431-7-8 10.1016/S0140-6736(47)91941-7 10.1046/j.1365-2516.2000.00362.x 10.1055/s-0038-1657682 |
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| Keywords | İntracranial hemorrage Factor V deficiency Bleeding disorder |
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| References | Shen, He, Dahlback (CR4) 1997; 78 Viswabandya, Baidya, Nair (CR9) 2010; 85 Montefusco, Duga, Asselta (CR5) 2000; 111 Ehrenforth, Klarmann, Zabel, Scharrer, Kreuz (CR7) 1998; 157 Franchini, Lippi (CR13) 2010; 125 Salooja, Martin, Khair, Liesner, Hann (CR8) 2000; 6 Chingale, Eisenhut, Gadiraju, Liesner (CR11) 2007; 7 Huang, Koerper (CR2) 2008; 14 Lee, Chong, Begum, Abdullah, Koh, Lim (CR12) 2001; 23 Bolton-Maggs, Perry, Chalmers (CR10) 2004; 10 Owren (CR3) 1947; 249 Asselta, Peyvandi (CR1) 2009; 35 Van Wijk, Nieuwenhuis, van den Berg (CR6) 2001; 98 R Wijk Van (149_CR6) 2001; 98 A Viswabandya (149_CR9) 2010; 85 R Asselta (149_CR1) 2009; 35 N Salooja (149_CR8) 2000; 6 PA Owren (149_CR3) 1947; 249 WS Lee (149_CR12) 2001; 23 L Shen (149_CR4) 1997; 78 PH Bolton-Maggs (149_CR10) 2004; 10 A Chingale (149_CR11) 2007; 7 JN Huang (149_CR2) 2008; 14 M Franchini (149_CR13) 2010; 125 MC Montefusco (149_CR5) 2000; 111 S Ehrenforth (149_CR7) 1998; 157 |
| References_xml | – volume: 85 start-page: 538 year: 2010 end-page: 539 ident: CR9 article-title: Clinical manifestations of combined factor V and VII deficiency: a series of 37 cases from a single center in India publication-title: Am J Hematol doi: 10.1002/ajh.21741 contributor: fullname: Nair – volume: 35 start-page: 382 year: 2009 end-page: 389 ident: CR1 article-title: Factor V deficiency publication-title: Semin Thromb Hemost doi: 10.1055/s-0029-1225760 contributor: fullname: Peyvandi – volume: 78 start-page: 1030 year: 1997 end-page: 1036 ident: CR4 article-title: Synergistic cofactor function of factor V and protein S to activated protein C in the inactivation of the factor VIIIa–factor IXa complex–species specific interactions of components of the protein C anticoagulant system publication-title: Thromb Haemost contributor: fullname: Dahlback – volume: 111 start-page: 1240 year: 2000 end-page: 1246 ident: CR5 article-title: A novel two base pair deletion in the factor V gene 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article-title: Parahaemophilia: haemorrhagic diathesis due to absence of a previously unknown clotting factor publication-title: Lancet doi: 10.1016/S0140-6736(47)91941-7 contributor: fullname: Owren – volume: 6 start-page: 44 year: 2000 end-page: 46 ident: CR8 article-title: Severe factor V deficiency and neonatal intracranial hemorrhage: a case report publication-title: Haemophilia doi: 10.1046/j.1365-2516.2000.00362.x contributor: fullname: Hann – volume: 14 start-page: 1164 year: 2008 ident: 149_CR2 publication-title: Haemophilia doi: 10.1111/j.1365-2516.2008.01785.x contributor: fullname: JN Huang – volume: 35 start-page: 382 year: 2009 ident: 149_CR1 publication-title: Semin Thromb Hemost doi: 10.1055/s-0029-1225760 contributor: fullname: R Asselta – volume: 6 start-page: 44 year: 2000 ident: 149_CR8 publication-title: Haemophilia doi: 10.1046/j.1365-2516.2000.00362.x contributor: fullname: N Salooja – volume: 125 start-page: 119 year: 2010 ident: 149_CR13 publication-title: 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contributor: fullname: L Shen – volume: 85 start-page: 538 year: 2010 ident: 149_CR9 publication-title: Am J Hematol doi: 10.1002/ajh.21741 contributor: fullname: A Viswabandya – volume: 7 start-page: 8 year: 2007 ident: 149_CR11 publication-title: BMC Pediatr doi: 10.1186/1471-2431-7-8 contributor: fullname: A Chingale – volume: 98 start-page: 358 year: 2001 ident: 149_CR6 publication-title: Blood doi: 10.1182/blood.V98.2.358 contributor: fullname: R Wijk Van |
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| Snippet | Factor V deficiency is an inherited disorder, in which the clotting factor V is low. The disorder is very rare, occurring in only one in one million people. It... |
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| SubjectTerms | Blood Transfusion Medicine Case Report Coagulation Congenital diseases Hematology Hemorrhage Human Genetics Medicine Medicine & Public Health Oncology |
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| Title | Factor V Deficiency Associated with Congenital Cardiac Disorder and Intracranial Hemorrage |
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