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Factor 9 and Factor XI, combined deficiency of(MCFD6; FMFD VI)

MedGen UID:
377012
•Concept ID:
C1851374
•
Disease or Syndrome
Synonyms: Factor ix and factor xi, combined deficiency of; FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY VI; MULTIPLE COAGULATION FACTOR DEFICIENCY VI
 
Monarch Initiative: MONDO:0007599
OMIM®: 134540

Clinical features

From HPO
Reduced factor IX activity
MedGen UID:
868754
•Concept ID:
C4023159
•
Finding
Decreased 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.
See: Feature record | Search on this feature
Reduced factor XI activity
MedGen UID:
1368629
•Concept ID:
C4317093
•
Finding
Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies.
Pascreau T, de la Morena-Barrio ME, Lasne D, Serrano M, Bianchini E, Kossorotoff M, Boddaert N, Bruneel A, Seta N, Vicente V, de Lonlay P, Corral J, Borgel D
J Thromb Haemost 2019 Nov;17(11):1798-1807. Epub 2019 Jul 28 doi: 10.1111/jth.14559. PMID: 31271700
Analgesia, anaesthesia and obstetric outcome in women with inherited bleeding disorders.
Boyd SC, O'Connor AD, Horan MA, Dicker P, Manning C, Lynch C, Regan C, Ryan K, Tan T, Byrne BM
Eur J Obstet Gynecol Reprod Biol 2019 Aug;239:60-63. Epub 2019 Jun 4 doi: 10.1016/j.ejogrb.2019.05.043. PMID: 31185377
Oral surgery for combined haemophilia A and B. The dos and don'ts presented in a clinical scenario.
Lazar MA, Muresan O, Roman CR, Dima D, Muresan MS, Armencea G, Tomuleasa C, Rotaru H
Ann Ital Chir 2018;89:374-378. PMID: 30569902
Pregnancy and rare bleeding disorders.
Kadir R, Chi C, Bolton-Maggs P
Haemophilia 2009 Sep;15(5):990-1005. Epub 2009 Feb 27 doi: 10.1111/j.1365-2516.2009.01984.x. PMID: 19298378
Inherited bleeding disorders.
Blanchette VS, Sparling C, Turner C
Baillieres Clin Haematol 1991 Apr;4(2):291-332. doi: 10.1016/s0950-3536(05)80162-3. PMID: 1912663

Diagnosis

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies.
Pascreau T, de la Morena-Barrio ME, Lasne D, Serrano M, Bianchini E, Kossorotoff M, Boddaert N, Bruneel A, Seta N, Vicente V, de Lonlay P, Corral J, Borgel D
J Thromb Haemost 2019 Nov;17(11):1798-1807. Epub 2019 Jul 28 doi: 10.1111/jth.14559. PMID: 31271700
Paired APTTs of low and high lupus anticoagulant sensitivity permit distinction from other abnormalities and achieve good lupus anticoagulant detection rates in conjunction with dRVVT.
Kumano O, Amiral J, Dunois C, Peyrafitte M, Moore GW
Int J Lab Hematol 2019 Feb;41(1):60-68. Epub 2018 Sep 24 doi: 10.1111/ijlh.12921. PMID: 30248243
Oral surgery for combined haemophilia A and B. The dos and don'ts presented in a clinical scenario.
Lazar MA, Muresan O, Roman CR, Dima D, Muresan MS, Armencea G, Tomuleasa C, Rotaru H
Ann Ital Chir 2018;89:374-378. PMID: 30569902
Modelling the effect of amplification pathway factors on thrombin generation: A comparison of hemophilias.
Bungay SD
Transfus Apher Sci 2008 Feb;38(1):41-7. Epub 2008 Feb 21 doi: 10.1016/j.transci.2007.12.007. PMID: 18294917
Inherited bleeding disorders.
Blanchette VS, Sparling C, Turner C
Baillieres Clin Haematol 1991 Apr;4(2):291-332. doi: 10.1016/s0950-3536(05)80162-3. PMID: 1912663

Therapy

Resolution of cardiac surgical bleeding with the combination of 4-factor prothrombin complex concentrate and fresh frozen plasma following lack of response to fresh frozen plasma alone in a patient with severe factor XI deficiency.
Boateng P, Varma M, Chen L, Kyaw H, Kyaw NL, Yoe J
Blood Coagul Fibrinolysis 2023 Jul 1;34(5):333-336. Epub 2023 Jun 21 doi: 10.1097/MBC.0000000000001236. PMID: 37395189
Anticoagulation beyond direct thrombin and factor Xa inhibitors: indications for targeting the intrinsic pathway?
van Montfoort ML, Meijers JC
Thromb Haemost 2013 Aug;110(2):223-32. Epub 2013 Jun 6 doi: 10.1160/TH12-11-0803. PMID: 23739841
Pregnancy and rare bleeding disorders.
Kadir R, Chi C, Bolton-Maggs P
Haemophilia 2009 Sep;15(5):990-1005. Epub 2009 Feb 27 doi: 10.1111/j.1365-2516.2009.01984.x. PMID: 19298378
Inherited bleeding disorders.
Blanchette VS, Sparling C, Turner C
Baillieres Clin Haematol 1991 Apr;4(2):291-332. doi: 10.1016/s0950-3536(05)80162-3. PMID: 1912663
Prolonged bleeding times with factor IX and XI deficiency von Willebrand's syndromes.
Brody JI
Am J Med Sci 1975 Jan-Feb;269(1):19-24. doi: 10.1097/00000441-197501000-00003. PMID: 1079405

Prognosis

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies.
Pascreau T, de la Morena-Barrio ME, Lasne D, Serrano M, Bianchini E, Kossorotoff M, Boddaert N, Bruneel A, Seta N, Vicente V, de Lonlay P, Corral J, Borgel D
J Thromb Haemost 2019 Nov;17(11):1798-1807. Epub 2019 Jul 28 doi: 10.1111/jth.14559. PMID: 31271700
Modelling the effect of amplification pathway factors on thrombin generation: A comparison of hemophilias.
Bungay SD
Transfus Apher Sci 2008 Feb;38(1):41-7. Epub 2008 Feb 21 doi: 10.1016/j.transci.2007.12.007. PMID: 18294917
Paradoxic effect of multiple mild coagulation factor deficiencies on the prothrombin time and activated partial thromboplastin time.
Burns ER, Goldberg SN, Wenz B
Am J Clin Pathol 1993 Aug;100(2):94-8. doi: 10.1093/ajcp/100.2.94. PMID: 8356955

Clinical prediction guides

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies.
Pascreau T, de la Morena-Barrio ME, Lasne D, Serrano M, Bianchini E, Kossorotoff M, Boddaert N, Bruneel A, Seta N, Vicente V, de Lonlay P, Corral J, Borgel D
J Thromb Haemost 2019 Nov;17(11):1798-1807. Epub 2019 Jul 28 doi: 10.1111/jth.14559. PMID: 31271700
Modelling the effect of amplification pathway factors on thrombin generation: A comparison of hemophilias.
Bungay SD
Transfus Apher Sci 2008 Feb;38(1):41-7. Epub 2008 Feb 21 doi: 10.1016/j.transci.2007.12.007. PMID: 18294917
Paradoxic effect of multiple mild coagulation factor deficiencies on the prothrombin time and activated partial thromboplastin time.
Burns ER, Goldberg SN, Wenz B
Am J Clin Pathol 1993 Aug;100(2):94-8. doi: 10.1093/ajcp/100.2.94. PMID: 8356955
Intrinsic coagulation pathway in end-stage renal disease associated with spinal cord injury treated with hemodialysis.
Vaziri ND, Winer RL, Toohey J, Danviriyasup K, Alikhani S, Eltorai I, Gordon S, Paule P
Artif Organs 1985 May;9(2):155-9. doi: 10.1111/j.1525-1594.1985.tb04366.x. PMID: 3925930

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