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Increased factor IX activity

MedGen UID:
1768930
•Concept ID:
C5421578
•
Finding
HPO: HP:0033061

Definition

Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased factor IX activity

Conditions with this feature

Thrombophilia, X-linked, due to factor 9 defect
MedGen UID:
411730
•Concept ID:
C2749016
•
Disease or Syndrome
A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).
See: Condition Record
Thrombophilia, X-linked, due to factor 9 defect

Professional guidelines

PubMed

Pathogenesis and treatment of osteoporosis in patients with hemophilia.
Lin X, Gao P, Zhang Q, Jiang Y, Wang O, Xia W, Li M
Arch Osteoporos 2023 Jan 4;18(1):17. doi: 10.1007/s11657-022-01203-9. PMID: 36598583Free PMC Article
Evolving Complexity in Hemophilia Management.
Croteau SE
Pediatr Clin North Am 2018 Jun;65(3):407-425. doi: 10.1016/j.pcl.2018.01.004. PMID: 29803274
Prevention and treatment of myeloma bone disease.
Terpos E, Kastritis E, Dimopoulos MA
Curr Hematol Malig Rep 2012 Dec;7(4):249-57. doi: 10.1007/s11899-012-0135-0. PMID: 22941027

Recent clinical studies

Etiology

Phase 1-2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B.
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Gene therapy with adeno-associated virus vector 5-human factor IX in adults with hemophilia B.
Miesbach W, Meijer K, Coppens M, Kampmann P, Klamroth R, Schutgens R, Tangelder M, Castaman G, Schwäble J, Bonig H, Seifried E, Cattaneo F, Meyer C, Leebeek FWG
Blood 2018 Mar 1;131(9):1022-1031. Epub 2017 Dec 15 doi: 10.1182/blood-2017-09-804419. PMID: 29246900Free PMC Article
Coagulation Testing in the Core Laboratory.
Winter WE, Flax SD, Harris NS
Lab Med 2017 Nov 8;48(4):295-313. doi: 10.1093/labmed/lmx050. PMID: 29126301
Personalized prophylaxis.
Collins PW
Haemophilia 2012 Jul;18 Suppl 4:131-5. doi: 10.1111/j.1365-2516.2012.02838.x. PMID: 22726096
Adenovirus-associated virus vector-mediated gene transfer in hemophilia B.
Nathwani AC, Tuddenham EG, Rangarajan S, Rosales C, McIntosh J, Linch DC, Chowdary P, Riddell A, Pie AJ, Harrington C, O'Beirne J, Smith K, Pasi J, Glader B, Rustagi P, Ng CY, Kay MA, Zhou J, Spence Y, Morton CL, Allay J, Coleman J, Sleep S, Cunningham JM, Srivastava D, Basner-Tschakarjan E, Mingozzi F, High KA, Gray JT, Reiss UM, Nienhuis AW, Davidoff AM
N Engl J Med 2011 Dec 22;365(25):2357-65. Epub 2011 Dec 10 doi: 10.1056/NEJMoa1108046. PMID: 22149959Free PMC Article

Diagnosis

Considerations on activity assay discrepancies in factor VIII and factor IX products.
Ovanesov MV, Jackson JW, Golding B, Lee TK
J Thromb Haemost 2021 Sep;19(9):2102-2111. Epub 2021 Jul 20 doi: 10.1111/jth.15425. PMID: 34145730
Evolving Complexity in Hemophilia Management.
Croteau SE
Pediatr Clin North Am 2018 Jun;65(3):407-425. doi: 10.1016/j.pcl.2018.01.004. PMID: 29803274
Coagulation Testing in the Core Laboratory.
Winter WE, Flax SD, Harris NS
Lab Med 2017 Nov 8;48(4):295-313. doi: 10.1093/labmed/lmx050. PMID: 29126301
Primary haemostasis: newer insights.
Berndt MC, Metharom P, Andrews RK
Haemophilia 2014 May;20 Suppl 4:15-22. doi: 10.1111/hae.12427. PMID: 24762270
Acquired inhibitors.
Cohen AJ, Kessler CM
Baillieres Clin Haematol 1996 Jun;9(2):331-54. doi: 10.1016/s0950-3536(96)80067-9. PMID: 8800509

Therapy

Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B.
Pipe SW, Leebeek FWG, Recht M, Key NS, Castaman G, Miesbach W, Lattimore S, Peerlinck K, Van der Valk P, Coppens M, Kampmann P, Meijer K, O'Connell N, Pasi KJ, Hart DP, Kazmi R, Astermark J, Hermans CRJR, Klamroth R, Lemons R, Visweshwar N, von Drygalski A, Young G, Crary SE, Escobar M, Gomez E, Kruse-Jarres R, Quon DV, Symington E, Wang M, Wheeler AP, Gut R, Liu YP, Dolmetsch RE, Cooper DL, Li Y, Goldstein B, Monahan PE
N Engl J Med 2023 Feb 23;388(8):706-718. doi: 10.1056/NEJMoa2211644. PMID: 36812434
Lipid Nanoparticle-mRNA Formulations for Therapeutic Applications.
Wang C, Zhang Y, Dong Y
Acc Chem Res 2021 Dec 7;54(23):4283-4293. Epub 2021 Nov 18 doi: 10.1021/acs.accounts.1c00550. PMID: 34793124Free PMC Article
Gene therapy for hemophilia.
Nathwani AC
Hematology Am Soc Hematol Educ Program 2019 Dec 6;2019(1):1-8. doi: 10.1182/hematology.2019000007. PMID: 31808868Free PMC Article
Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant.
George LA, Sullivan SK, Giermasz A, Rasko JEJ, Samelson-Jones BJ, Ducore J, Cuker A, Sullivan LM, Majumdar S, Teitel J, McGuinn CE, Ragni MV, Luk AY, Hui D, Wright JF, Chen Y, Liu Y, Wachtel K, Winters A, Tiefenbacher S, Arruda VR, van der Loo JCM, Zelenaia O, Takefman D, Carr ME, Couto LB, Anguela XM, High KA
N Engl J Med 2017 Dec 7;377(23):2215-2227. doi: 10.1056/NEJMoa1708538. PMID: 29211678Free PMC Article
Fusion protein linkers: property, design and functionality.
Chen X, Zaro JL, Shen WC
Adv Drug Deliv Rev 2013 Oct;65(10):1357-69. Epub 2012 Sep 29 doi: 10.1016/j.addr.2012.09.039. PMID: 23026637Free PMC Article

Prognosis

Coagulation Alterations in Major Burn Patients: A Narrative Review.
Guilabert P, Martin N, Usúa G, Vendrell M, Colomina MJ, Barret JP
J Burn Care Res 2023 Mar 2;44(2):280-292. doi: 10.1093/jbcr/irac177. PMID: 36444638
Phase 1-2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B.
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Coagulation profile of human COVID-19 convalescent plasma.
Klompas AM, van Helmond N, Juskewitch JE, Pruthi RK, Sexton MA, Soto JCD, Klassen SA, Senese KA, van Buskirk CM, Winters JL, Stubbs JR, Hammel SA, Joyner MJ, Senefeld JW
Sci Rep 2022 Jan 12;12(1):637. doi: 10.1038/s41598-021-04670-1. PMID: 35022488Free PMC Article
Adenovirus-associated virus vector-mediated gene transfer in hemophilia B.
Nathwani AC, Tuddenham EG, Rangarajan S, Rosales C, McIntosh J, Linch DC, Chowdary P, Riddell A, Pie AJ, Harrington C, O'Beirne J, Smith K, Pasi J, Glader B, Rustagi P, Ng CY, Kay MA, Zhou J, Spence Y, Morton CL, Allay J, Coleman J, Sleep S, Cunningham JM, Srivastava D, Basner-Tschakarjan E, Mingozzi F, High KA, Gray JT, Reiss UM, Nienhuis AW, Davidoff AM
N Engl J Med 2011 Dec 22;365(25):2357-65. Epub 2011 Dec 10 doi: 10.1056/NEJMoa1108046. PMID: 22149959Free PMC Article
Acquired inhibitors.
Cohen AJ, Kessler CM
Baillieres Clin Haematol 1996 Jun;9(2):331-54. doi: 10.1016/s0950-3536(96)80067-9. PMID: 8800509

Clinical prediction guides

Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B.
Pipe SW, Leebeek FWG, Recht M, Key NS, Castaman G, Miesbach W, Lattimore S, Peerlinck K, Van der Valk P, Coppens M, Kampmann P, Meijer K, O'Connell N, Pasi KJ, Hart DP, Kazmi R, Astermark J, Hermans CRJR, Klamroth R, Lemons R, Visweshwar N, von Drygalski A, Young G, Crary SE, Escobar M, Gomez E, Kruse-Jarres R, Quon DV, Symington E, Wang M, Wheeler AP, Gut R, Liu YP, Dolmetsch RE, Cooper DL, Li Y, Goldstein B, Monahan PE
N Engl J Med 2023 Feb 23;388(8):706-718. doi: 10.1056/NEJMoa2211644. PMID: 36812434
Phase 1-2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B.
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Safety and activity of an engineered, liver-tropic adeno-associated virus vector expressing a hyperactive Padua factor IX administered with prophylactic glucocorticoids in patients with haemophilia B: a single-centre, single-arm, phase 1, pilot trial.
Xue F, Li H, Wu X, Liu W, Zhang F, Tang D, Chen Y, Wang W, Chi Y, Zheng J, Du Z, Jiang W, Zhong C, Wei J, Zhu P, Fu R, Liu X, Chen L, Pei X, Sun J, Cheng T, Yang R, Xiao X, Zhang L
Lancet Haematol 2022 Jul;9(7):e504-e513. Epub 2022 May 19 doi: 10.1016/S2352-3026(22)00113-2. PMID: 35598604
Evolutionary insights into coagulation factor IX Padua and other high-specific-activity variants.
Samelson-Jones BJ, Finn JD, Raffini LJ, Merricks EP, Camire RM, Nichols TC, Arruda VR
Blood Adv 2021 Mar 9;5(5):1324-1332. doi: 10.1182/bloodadvances.2019000405. PMID: 33656538Free PMC Article
Adenovirus-associated virus vector-mediated gene transfer in hemophilia B.
Nathwani AC, Tuddenham EG, Rangarajan S, Rosales C, McIntosh J, Linch DC, Chowdary P, Riddell A, Pie AJ, Harrington C, O'Beirne J, Smith K, Pasi J, Glader B, Rustagi P, Ng CY, Kay MA, Zhou J, Spence Y, Morton CL, Allay J, Coleman J, Sleep S, Cunningham JM, Srivastava D, Basner-Tschakarjan E, Mingozzi F, High KA, Gray JT, Reiss UM, Nienhuis AW, Davidoff AM
N Engl J Med 2011 Dec 22;365(25):2357-65. Epub 2011 Dec 10 doi: 10.1056/NEJMoa1108046. PMID: 22149959Free PMC Article

Recent systematic reviews

Delivery and neuraxial technique outcomes in patients with hemophilia and in hemophilia carriers: a systematic review.
Togioka BM, Burwick RM, Kujovich JL
J Anesth 2021 Apr;35(2):288-302. Epub 2021 Mar 8 doi: 10.1007/s00540-021-02911-1. PMID: 33682038
Recombinant factor VIIa concentrate versus plasma-derived concentrates for treating acute bleeding episodes in people with haemophilia and inhibitors.
Matino D, Makris M, Dwan K, D'Amico R, Iorio A
Cochrane Database Syst Rev 2015 Dec 16;2015(12):CD004449. doi: 10.1002/14651858.CD004449.pub4. PMID: 26677005Free PMC Article
Self-management of oral anticoagulation therapy--methodological and clinical aspects.
Christensen TD
Dan Med Bull 2011 May;58(5):B4284. PMID: 21535992

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