Recurrent epistaxis in a woman who was a carrier of hemophilia: A case report.
Main Article Content
Abstract
Carriers of hemophilia may have variable baseline levels of Factor VIII and an association of an increased hemorrhagic tendency. This clinical case reports a case whereby a 22-year-old woman was diagnosed as a carrier of hemophilia with a Factor VIII level of 11% when the patient presented with recurrent epistaxis. The report discusses the diagnosis and management of the patient as well as the consensus guidelines of the International Society of Thrombosis and Hemostasis.
Keywords:
hemophilia, women, guidelines, management
Article Details
How to Cite
MURRAY, Nigel P..
Recurrent epistaxis in a woman who was a carrier of hemophilia: A case report..
Medical Research Archives, [S.l.], v. 12, n. 11, nov. 2024.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/5901>. Date accessed: 12 dec. 2024.
doi: https://doi.org/10.18103/mra.v12i11.5901.
Section
Case Reports
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
References
1. Amos-Landgraf JM, Cottle A, Plenge RM, Friez M, Schwartz CE, Longshore J et al. X chromosome inactivation patterns of 1005 phenotypically unaffected females. Am J Hum Genet 2006; 79: 493-499
2. Renault NK, Dyack S, Dobson MJ, Costa T, Lam WL, Greer WL. Heritable skewed X-chromosome inactivation leads to hemophilia expression in heterozygous females. Eur J Hum Genet 2007: 15: 628-637
3. Dardik R, Avishai E, Lalezari S, Barg AA, Levy-Mendelovich S, Budnik I et al. Molecular mechanisms of skewed X chromosome inactivation in female hemophilia patients-lessons from wide genome analysis. Int J Mol Sciene 2021; 22: 9074
4. Kizilocak H, Young G. Diagnosis and treatment of hemophilia. Clin Adv Hematol Oncol 2019; 17: 344-351.
5. Sousa NC, Anicchino-Bizzacchi JM, Locatelli MF, Castro V, Barjas-Castro ML. The relationship between ABO groups and subgroups Factor VIII and von Willebrand factor. Hematologica 2007; 92: 236-269
6. Loomans JI, van Velzen AS, Eckhardt CL, Peters M, Makipernaa A, Holmsrom M et al. Variation in baseline Factor VIII concentration in a retrospective cohort of mild/moderate hemophilia A patients carrying identical F8 mutations. J Thromb Haemost 2017; 15: 246-254
7. Ollsson A, Hellgren M, Berntorp E, Ljung R, Baghaei F. Clotting factor level is not a good predictor of bleeding phenotype in carriers of haemophilia A and B. Blood Coagul Fibrinolysis 2014; 25: 471-475
8. Paroskie A, Gailani D, DeBaun MR, Sidonio RF Jr. A cross sectional study of bleeding phenotype in haemophilia A carriers. Br J Haematol 2015: 170: 223-238
9. Garagiola I, Mortarino M, Siboni SM, Boscarino M, Mancuso ME, Biganzoli M et al. X chromosome inactivation: a modifier of Factor VIII and IX plasma levels and bleeding phenotype in haemophilia carriers. Eur J Human Genet 2021; 29: 241-249
10. Makris M, Oldenberg J, Mauser-Bunschoten EP, Peerlinck K, Castaman SC. The definition, diagnosis and management of mild hemophilia A: Communication from the SSC of the ISTH. J Thromb Haemost 2018; 16: 2530-2533
11. van Galen KPM, d´Oiron R, James P, Abdul-Kadir R, Kouides PA, Kulkarni R et al. A new hemophilia carrier nomenclature to define hemophilia in women and girls: Communication from the SSC of the ISTH. J Thromb Haemost 2021; 19: 1883-1887
12. Dunkley SM, Russell SJ, Rowell JA, Barnes CD, Baker RI, Darson MI et al. On behalf of the Australian Haemophilia Centre Directors’ Organisation. MJA 2009; 191: 460-463.
13. Leebeek FWG, Duvekot J, Kruip JHA. How I manage pregnancy in carriers of hemophilia and patients with von Willebrand disease. Blood 2020; 136: 2143-2150
14. Eckhardt CL, van Velzen AS, Peters M, Astermark J, Brons PP, Castaman G et al. Factor VIII gene (F8) mutation and the risk of inhibitor development in nonsevere hemophilia A. Blood 2013; 122: 1954-1962
15. van Velzen AS, Eckhardt CL, Streefkerk N, Peters M, Hart DP, Hamulyak K et al. INSIGHT Study Grouo. The incidence and treatment of bleeding episodes on non-severe hemophila A patients with inhibitors. Thromb Haemost 2016; 115: 543-550
16. Lee CA, Chi C, Pavord SR et al. The obstetric and gynaecological management of woman with inherited bleeding disorders-review with guidelines produced by a taskforce of UK Haemphilia Centre Doctors´Organization. Haemophilia 2006; 12: 301-336
17. Steet AM, Ljung R, Lavery SA. Management of carriers and babies with haemophilia. Haemophilia 2008; 14 Suppl 3: 181-187
18. Management of inherited bleeding disorders in pregnancy: Green-top Guideline Nº 71 (joint with UKHCDO). BJOG 2017; 124: e193-e263
19. National Hemophilia Foundation. MASAC guidelines for perinatal management of women with bleeding disorders and carriers of hemophilia A or. B (document 251) https://www.hemohilia.org/Researchers-Health Care-Providers/Medical-and-scientific advisors-council-MASAC/MASAC-Recommendations/MASAC-Guidelines-for-perinatal-management-of-women-with-bleeding-disorders-and carriers-of-hemophila-A-and-B. Accessed August 2024.
20. Zwagemaker A, Gouw SC, Valk C, Ganzevoort W, Coppens M, Peters M. Postpartum heaemorrhage in an unselected cohort of carriers of haemophilia. Haemophilia 2018; 24: e256-e259
21. Mannucci PM. Use of desmopressin (DDAVP) during early pregnancy in Factor VIII deficient women (letter) Blood 2005; 105: 3382
22. Dahlke J, Mendez-Figueroa H, Maggio L, Hausprung A, Soperling J, Chauhan S et al. Prevention and management of postpartum hemorrhage: a comparison of 4 national guidelines. Am J Obstet Gynecol 2015; 213: e1-e10
23. Hawke L, Grabell J, Sim W, Thibeault L, Muir E, Hopman W. et al. Obstetric bleeding among women with inherited bleeding disorders: a retrospective study. Haemophilia 2016; 22: 906-911
24. Lee CA, Chi C, Pavord SR, Bolton-Maggs PHB, Pollard D, Hinchcliffe-Wood A et al. The obstetric and gynaecological of women with inherited bleeding disorders: review with guidelines produced by a taskforce of UK haemophila Centre Doctors´ Organization. Haemophilia 2006; 12: 301-336
25. Hawke L, Grabell J, Sim W, Thibeault L, Muir E, Hopman W et al. Obstetric bleeding among women with inherited bleeding disorders: a retrospective study. Haemophilia 2016; 22: 906-911
26. Demers C, Derzko C, David M, Douglas J. Gynaecologic al and obstetric management of women with inherited bleeding disorders. J Obstet Gynaecol Can 2016; 40: e91-e103
27. MediiMedia Australia. MIMS annual. 31sr ed. Sydney: MediMedia Australia 2007
28. Australian Drug Evaluation Committee. Prescribing medicines in pregnancy. 4th ed. Canberra: Therapeutic Goods administration, 1999 http:/www.tga.gov.au/DOCS/HTLM/medpreg.htm (accessed September 2024).
29. Oldenberg J, Mahlangu JN, Kim B, Schmitt C, Callaghan MU, Young G et al. Emicvizumab prophylaxis in hemophilia A with inhibitors. N Eng J Med 2017; 377: 809-818
30. Mahlangu JN, Oldenberg J, Faz-Priel I, Negrier C, Niggli M, Mancuso ME et al. Emicizumab prophylaxis in patients with hemophila A without inhibitors. N Eng J Med 2018; 379: 811-822
31. Verstraete G, Lambert C, Hermans C. First report of emicizumab use in a female patient with severe haemophilia A. Blood Adv 2020; 4: 2950-2592
32. Kharel Z, Pruthi R, Kouides P, Reid A. Transplacental transfer of emicizumab: Experience with emicizumab in a pregnant female with severe hemophilia A and an inhibitor. Haemophila 2024; 30: 868-871
2. Renault NK, Dyack S, Dobson MJ, Costa T, Lam WL, Greer WL. Heritable skewed X-chromosome inactivation leads to hemophilia expression in heterozygous females. Eur J Hum Genet 2007: 15: 628-637
3. Dardik R, Avishai E, Lalezari S, Barg AA, Levy-Mendelovich S, Budnik I et al. Molecular mechanisms of skewed X chromosome inactivation in female hemophilia patients-lessons from wide genome analysis. Int J Mol Sciene 2021; 22: 9074
4. Kizilocak H, Young G. Diagnosis and treatment of hemophilia. Clin Adv Hematol Oncol 2019; 17: 344-351.
5. Sousa NC, Anicchino-Bizzacchi JM, Locatelli MF, Castro V, Barjas-Castro ML. The relationship between ABO groups and subgroups Factor VIII and von Willebrand factor. Hematologica 2007; 92: 236-269
6. Loomans JI, van Velzen AS, Eckhardt CL, Peters M, Makipernaa A, Holmsrom M et al. Variation in baseline Factor VIII concentration in a retrospective cohort of mild/moderate hemophilia A patients carrying identical F8 mutations. J Thromb Haemost 2017; 15: 246-254
7. Ollsson A, Hellgren M, Berntorp E, Ljung R, Baghaei F. Clotting factor level is not a good predictor of bleeding phenotype in carriers of haemophilia A and B. Blood Coagul Fibrinolysis 2014; 25: 471-475
8. Paroskie A, Gailani D, DeBaun MR, Sidonio RF Jr. A cross sectional study of bleeding phenotype in haemophilia A carriers. Br J Haematol 2015: 170: 223-238
9. Garagiola I, Mortarino M, Siboni SM, Boscarino M, Mancuso ME, Biganzoli M et al. X chromosome inactivation: a modifier of Factor VIII and IX plasma levels and bleeding phenotype in haemophilia carriers. Eur J Human Genet 2021; 29: 241-249
10. Makris M, Oldenberg J, Mauser-Bunschoten EP, Peerlinck K, Castaman SC. The definition, diagnosis and management of mild hemophilia A: Communication from the SSC of the ISTH. J Thromb Haemost 2018; 16: 2530-2533
11. van Galen KPM, d´Oiron R, James P, Abdul-Kadir R, Kouides PA, Kulkarni R et al. A new hemophilia carrier nomenclature to define hemophilia in women and girls: Communication from the SSC of the ISTH. J Thromb Haemost 2021; 19: 1883-1887
12. Dunkley SM, Russell SJ, Rowell JA, Barnes CD, Baker RI, Darson MI et al. On behalf of the Australian Haemophilia Centre Directors’ Organisation. MJA 2009; 191: 460-463.
13. Leebeek FWG, Duvekot J, Kruip JHA. How I manage pregnancy in carriers of hemophilia and patients with von Willebrand disease. Blood 2020; 136: 2143-2150
14. Eckhardt CL, van Velzen AS, Peters M, Astermark J, Brons PP, Castaman G et al. Factor VIII gene (F8) mutation and the risk of inhibitor development in nonsevere hemophilia A. Blood 2013; 122: 1954-1962
15. van Velzen AS, Eckhardt CL, Streefkerk N, Peters M, Hart DP, Hamulyak K et al. INSIGHT Study Grouo. The incidence and treatment of bleeding episodes on non-severe hemophila A patients with inhibitors. Thromb Haemost 2016; 115: 543-550
16. Lee CA, Chi C, Pavord SR et al. The obstetric and gynaecological management of woman with inherited bleeding disorders-review with guidelines produced by a taskforce of UK Haemphilia Centre Doctors´Organization. Haemophilia 2006; 12: 301-336
17. Steet AM, Ljung R, Lavery SA. Management of carriers and babies with haemophilia. Haemophilia 2008; 14 Suppl 3: 181-187
18. Management of inherited bleeding disorders in pregnancy: Green-top Guideline Nº 71 (joint with UKHCDO). BJOG 2017; 124: e193-e263
19. National Hemophilia Foundation. MASAC guidelines for perinatal management of women with bleeding disorders and carriers of hemophilia A or. B (document 251) https://www.hemohilia.org/Researchers-Health Care-Providers/Medical-and-scientific advisors-council-MASAC/MASAC-Recommendations/MASAC-Guidelines-for-perinatal-management-of-women-with-bleeding-disorders-and carriers-of-hemophila-A-and-B. Accessed August 2024.
20. Zwagemaker A, Gouw SC, Valk C, Ganzevoort W, Coppens M, Peters M. Postpartum heaemorrhage in an unselected cohort of carriers of haemophilia. Haemophilia 2018; 24: e256-e259
21. Mannucci PM. Use of desmopressin (DDAVP) during early pregnancy in Factor VIII deficient women (letter) Blood 2005; 105: 3382
22. Dahlke J, Mendez-Figueroa H, Maggio L, Hausprung A, Soperling J, Chauhan S et al. Prevention and management of postpartum hemorrhage: a comparison of 4 national guidelines. Am J Obstet Gynecol 2015; 213: e1-e10
23. Hawke L, Grabell J, Sim W, Thibeault L, Muir E, Hopman W. et al. Obstetric bleeding among women with inherited bleeding disorders: a retrospective study. Haemophilia 2016; 22: 906-911
24. Lee CA, Chi C, Pavord SR, Bolton-Maggs PHB, Pollard D, Hinchcliffe-Wood A et al. The obstetric and gynaecological of women with inherited bleeding disorders: review with guidelines produced by a taskforce of UK haemophila Centre Doctors´ Organization. Haemophilia 2006; 12: 301-336
25. Hawke L, Grabell J, Sim W, Thibeault L, Muir E, Hopman W et al. Obstetric bleeding among women with inherited bleeding disorders: a retrospective study. Haemophilia 2016; 22: 906-911
26. Demers C, Derzko C, David M, Douglas J. Gynaecologic al and obstetric management of women with inherited bleeding disorders. J Obstet Gynaecol Can 2016; 40: e91-e103
27. MediiMedia Australia. MIMS annual. 31sr ed. Sydney: MediMedia Australia 2007
28. Australian Drug Evaluation Committee. Prescribing medicines in pregnancy. 4th ed. Canberra: Therapeutic Goods administration, 1999 http:/www.tga.gov.au/DOCS/HTLM/medpreg.htm (accessed September 2024).
29. Oldenberg J, Mahlangu JN, Kim B, Schmitt C, Callaghan MU, Young G et al. Emicvizumab prophylaxis in hemophilia A with inhibitors. N Eng J Med 2017; 377: 809-818
30. Mahlangu JN, Oldenberg J, Faz-Priel I, Negrier C, Niggli M, Mancuso ME et al. Emicizumab prophylaxis in patients with hemophila A without inhibitors. N Eng J Med 2018; 379: 811-822
31. Verstraete G, Lambert C, Hermans C. First report of emicizumab use in a female patient with severe haemophilia A. Blood Adv 2020; 4: 2950-2592
32. Kharel Z, Pruthi R, Kouides P, Reid A. Transplacental transfer of emicizumab: Experience with emicizumab in a pregnant female with severe hemophilia A and an inhibitor. Haemophila 2024; 30: 868-871