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Congenital Bleeding Disorder

MedGen UID:
769746
•Concept ID:
C3641106
•
Disease or Syndrome

Definition

A bleeding disorder that is diagnosed during childhood, with the presenting symptom of excessive bleeding. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Bleeding Disorder

Professional guidelines

PubMed

Economic costs of hemophilia and the impact of prophylactic treatment on patient management.
Chen SL
Am J Manag Care 2016 Apr;22(5 Suppl):s126-33. PMID: 27266809
Factor XIII deficiency management: a review of the literature.
Odame JE, Chan AK, Wu JK, Breakey VR
Blood Coagul Fibrinolysis 2014 Apr;25(3):199-205. doi: 10.1097/MBC.0000000000000029. PMID: 24401950
Pathogenesis, clinical picture and treatment of von Willebrand's disease.
Lethagen SR
Ann Med 1995 Dec;27(6):641-51. doi: 10.3109/07853899509019250. PMID: 8652143

Recent clinical studies

Etiology

Clinical significance of slightly reduced von Willebrand factor activity.
Bykowska K, Ceglarek B
Pol Arch Intern Med 2020 Mar 27;130(3):225-231. Epub 2020 Jan 28 doi: 10.20452/pamw.15162. PMID: 31990275
Comprehensive care for hemophilia and other inherited bleeding disorders.
Page D
Transfus Apher Sci 2019 Oct;58(5):565-568. Epub 2019 Aug 6 doi: 10.1016/j.transci.2019.08.005. PMID: 31427262
Surgery in patients with inherited bleeding disorders.
Mensah PK, Gooding R
Anaesthesia 2015 Jan;70 Suppl 1:112-20, e39-40. doi: 10.1111/anae.12899. PMID: 25440405
Congenital bleeding disorders.
Rick ME, Walsh CE, Key NS
Hematology Am Soc Hematol Educ Program 2003:559-74. doi: 10.1182/asheducation-2003.1.559. PMID: 14633799
Fetoscopy.
Gustavii B, Cordesius E, Löfberg L, Strömberg P
Acta Obstet Gynecol Scand 1979;58(4):409-10. doi: 10.3109/00016347909154606. PMID: 316637

Diagnosis

How to use a coagulation screen.
Kapur S, Gilmore M, Macartney C, Thompson A
Arch Dis Child Educ Pract Ed 2022 Feb;107(1):45-49. Epub 2021 Feb 26 doi: 10.1136/archdischild-2020-320925. PMID: 33637579
RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.
Canault M, Alessi MC
Int J Mol Sci 2020 Feb 6;21(3) doi: 10.3390/ijms21031075. PMID: 32041177Free PMC Article
Clinical significance of slightly reduced von Willebrand factor activity.
Bykowska K, Ceglarek B
Pol Arch Intern Med 2020 Mar 27;130(3):225-231. Epub 2020 Jan 28 doi: 10.20452/pamw.15162. PMID: 31990275
Congenital bleeding disorders.
Rick ME, Walsh CE, Key NS
Hematology Am Soc Hematol Educ Program 2003:559-74. doi: 10.1182/asheducation-2003.1.559. PMID: 14633799
Fetoscopy.
Gustavii B, Cordesius E, Löfberg L, Strömberg P
Acta Obstet Gynecol Scand 1979;58(4):409-10. doi: 10.3109/00016347909154606. PMID: 316637

Therapy

Outcomes for studies assessing the efficacy of hemostatic therapies in persons with congenital bleeding disorders.
Aquino CC, Borg Debono V, Germini F, Pete D, Kempton CL, Young G, Sidonio R, Croteau SE, Dunn AL, Key NS, Iorio A
Haemophilia 2021 Mar;27(2):211-220. Epub 2021 Feb 6 doi: 10.1111/hae.14247. PMID: 33550614
Comprehensive care for hemophilia and other inherited bleeding disorders.
Page D
Transfus Apher Sci 2019 Oct;58(5):565-568. Epub 2019 Aug 6 doi: 10.1016/j.transci.2019.08.005. PMID: 31427262
Emerging drugs for hemophilia B.
Mannucci PM, Franchini M
Expert Opin Emerg Drugs 2014 Sep;19(3):407-14. Epub 2014 Aug 6 doi: 10.1517/14728214.2014.946010. PMID: 25098797
Is prophylaxis required for delivery in women with factor VII deficiency?
Baumann Kreuziger LM, Morton CT, Reding MT
Haemophilia 2013 Nov;19(6):827-32. Epub 2013 Apr 22 doi: 10.1111/hae.12167. PMID: 23607277Free PMC Article
Fetoscopy.
Gustavii B, Cordesius E, Löfberg L, Strömberg P
Acta Obstet Gynecol Scand 1979;58(4):409-10. doi: 10.3109/00016347909154606. PMID: 316637

Prognosis

Health-related quality of life in persons with haemophilia in Afghanistan.
Hosseini SMR, Mousavi SH, Mesbah-Namin SA, Tabibian S, Dorgalaleh A
Haemophilia 2023 May;29(3):770-775. Epub 2023 Mar 3 doi: 10.1111/hae.14772. PMID: 36867665
Epidemiology of Congenital Bleeding Disorders: a Nationwide Population-based Korean Study.
Yoon HS, Han Y, Kim YJ, Kim MJ, Byun JM, Youk T, Lee JH, Park TS, Yoo J
J Korean Med Sci 2020 Oct 12;35(39):e350. doi: 10.3346/jkms.2020.35.e350. PMID: 33045773Free PMC Article
Impact of IFNL4 rs12979860 and rs8099917 polymorphisms on response to Peg-Interferon-α and Ribavirin in patients with congenital bleeding disorder and chronic hepatitis C.
Keshvari M, Alavian SM, Behnava B, Pouryasin A, Craig JC, Sharafi H
J Clin Lab Anal 2017 Jul;31(4) Epub 2016 Oct 13 doi: 10.1002/jcla.22063. PMID: 27735085Free PMC Article
Hereditary combined deficiency of the vitamin K-dependent clotting factors.
Napolitano M, Mariani G, Lapecorella M
Orphanet J Rare Dis 2010 Jul 14;5:21. doi: 10.1186/1750-1172-5-21. PMID: 20630065Free PMC Article
Orthoses in haemophilia.
Querol F, Aznar JA, Haya S, Cid A
Haemophilia 2002 May;8(3):407-12. doi: 10.1046/j.1365-2516.2002.00637.x. PMID: 12010442

Clinical prediction guides

Bleeding disorder of unknown cause: Results from Iranian study.
Zafarani A, Ghodratnia E, Amirzargar MR, Mahmoudi M, Taghavi-Farahabadi M, Tavangar F, Abdolkarimi B, Tabibian S
Transfus Apher Sci 2023 Oct;62(5):103730. Epub 2023 May 23 doi: 10.1016/j.transci.2023.103730. PMID: 37295973
Aerobic exercise in patients with haemophilia: A systematic review on safety, feasibility and health effects.
Tomschi F, Ransmann P, Hilberg T
Haemophilia 2022 May;28(3):397-408. Epub 2022 Feb 28 doi: 10.1111/hae.14522. PMID: 35226779
Clinical significance of slightly reduced von Willebrand factor activity.
Bykowska K, Ceglarek B
Pol Arch Intern Med 2020 Mar 27;130(3):225-231. Epub 2020 Jan 28 doi: 10.20452/pamw.15162. PMID: 31990275
Gene Therapy for Hemophilia: Progress to Date.
Chapin JC, Monahan PE
BioDrugs 2018 Feb;32(1):9-25. doi: 10.1007/s40259-017-0255-0. PMID: 29127625
Atherothrombosis in von Willebrand disease: an analysis of the literature and implications for clinical management.
Franchini M, Coppola A
Semin Thromb Hemost 2012 Mar;38(2):185-99. Epub 2012 Mar 5 doi: 10.1055/s-0032-1301416. PMID: 22422333

Recent systematic reviews

Aerobic exercise in patients with haemophilia: A systematic review on safety, feasibility and health effects.
Tomschi F, Ransmann P, Hilberg T
Haemophilia 2022 May;28(3):397-408. Epub 2022 Feb 28 doi: 10.1111/hae.14522. PMID: 35226779
The effect of resistance exercise on strength and safety outcome for people with haemophilia: A systematic review.
Wagner B, Krüger S, Hilberg T, Ay C, Hasenoehrl T, Huber DF, Crevenna R
Haemophilia 2020 Mar;26(2):200-215. Epub 2020 Feb 24 doi: 10.1111/hae.13938. PMID: 32091659Free PMC Article
Congenital factor V and VIII deficiency in women: a systematic review of literature and report of two new cases.
Spiliopoulos D, Kadir RA
Blood Coagul Fibrinolysis 2016 Apr;27(3):237-41. doi: 10.1097/MBC.0000000000000407. PMID: 26376169
Congenital factor XIII deficiency in women: a systematic review of literature.
Sharief LA, Kadir RA
Haemophilia 2013 Nov;19(6):e349-57. Epub 2013 Aug 28 doi: 10.1111/hae.12259. PMID: 23992439
Is prophylaxis required for delivery in women with factor VII deficiency?
Baumann Kreuziger LM, Morton CT, Reding MT
Haemophilia 2013 Nov;19(6):827-32. Epub 2013 Apr 22 doi: 10.1111/hae.12167. PMID: 23607277Free PMC Article

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