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Inherited bleeding disorders in older women

      Abstract

      Inherited bleeding disorders (IBDs) are by definition life-long. The commonest IBD is von Willebrand disease (VWD), a deficiency of von Willebrand factor (VWF), with a prevalence 1% in the general population and 13% in women with menorrhagia. Other IBDs include carriers of haemophilia A (factor VIII deficiency) and haemophilia B, (factor IX deficiency) and rare bleeding disorders (RBDs), deficiencies of factors XI, X, V, VII, II, I and inherited platelet disorders. Diagnosis is the synthesis of a bleeding history, family history and specialised laboratory tests. Women with IBDs are more likely to suffer HMB, to be symptomatic, and to present with bleeding in association with gynaecological problems. Heavy and/or abnormal menstrual bleeding increases with age due increased anovulatory cycles and gynaecological pathologies in older women. Thus, older women with IBDs are more likely to present with gynaecological bleeding symptoms, have impaired QOL and require surgical interventions. Treatment with specific clotting factor concentrates may be required and this requires an expert in haematology. Awareness of IBDs among health care providers, early diagnosis and appropriate management in a multidisciplinary approach is required to minimise the bleeding complications for women with IBDs.

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      References

        • Shankar M.
        • Lee C.A.
        • Sabin C.A.
        • Economides D.L.
        • Kadir R.A.
        von Willebrand disease in women with menorrhagia: a systematic review.
        BJOG. 2004; 111: 734-740
        • Kouides P.A.
        • Byams V.R.
        • Philipp C.S.
        • Stein S.F.
        • Heit J.A.
        • Lukes A.S.
        • et al.
        Multisite management study of menorrhagia with abnormal laboratory haemostasis: a prospective crossover study of intranasal desmopressin and oral tranexamic acid.
        Br J Haematol. 2009; 145: 212-220
        • Tsai H.-M.
        Shear stress and von Willebrand factor in health and disease.
        Semin Thromb Hemost. 2003; 29: 479-488
        • Hoffman M.
        • Monroe 3rd., D.M.
        A cell-based model of hemostasis.
        Thromb Haemost. 2001; 85: 958-965
        • Rodeghiero F.
        • Tosetto A.
        • Abshire T.
        • Arnold D.M.
        • Coller B.
        • James P.
        • et al.
        ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders.
        J Thromb Haemost. 2010; 8: 2063-2065
        • Rizza C.R.
        • Rhymes I.L.
        • Austen D.E.
        • Kernoff P.B.
        • Aroni S.A.
        Detection of carriers of haemophilia: a “blind” study.
        Br J Haematol. 1975; 30: 447-456
        • White 2nd., G.C.
        • Rosendaal F.
        • Aledort L.M.
        • Lusher J.M.
        • Rothschild C.
        • Ingerslev J.
        Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis.
        Thromb Haemost. 2001; 85: 560
        • Seligsohn U.
        High gene frequency of factor XI (PTA) deficiency in Ashkenazi Jews.
        Blood. 1978; 51: 1223-1228
        • Bolton-Maggs P.H.
        • Young Wan-Yin B.
        • McCraw A.H.
        • Slack J.
        • Kernoff P.B.
        Inheritance and bleeding in factor XI deficiency.
        Br J Haematol. 1988; 69: 521-528
        • Bolton-Maggs P.H.
        Factor XI deficiency and its management.
        Haemophilia. 2000; 6: 100-109
        • Peyvandi F.
        • Palla R.
        • Menegatti M.
        • Mannucci P.M.
        Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management.
        Semin Thromb Hemost. 2009; 35: 349-355
        • Von Willebrand E.A.
        Hereditary pseudohaemophilia.
        Haemophilia. 1999; 5 ([discussion 222]): 223-231
        • Sadler J.E.
        • Budde U.
        • Eikenboom J.C.J.
        • Favaloro E.J.
        • Hill F.G.H.
        • Holmberg L.
        • et al.
        Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand factor.
        J Thromb Haemost. 2006; 4: 2103-2114
        • Kadir R.A.
        • Economides D.L.
        • Sabin C.A.
        • Owens D.
        • Lee C.A.
        Variations in coagulation factors in women: effects of age, ethnicity, menstrual cycle and combined oral contraceptive.
        Thromb Haemost. 1999; 82: 1456-1461
        • Philipp C.
        Platelet disorders.
        in: Lee C. Kadir R. Kouides P. Inherited bleeding disorders in women. Wiley-Blackwell, Oxford, UK2009: 65-69
        • Byams V.R.
        • Kouides P.A.
        • Kulkarni R.
        • Baker J.R.
        • Brown D.L.
        • Gill J.C.
        • et al.
        Surveillance of female patients with inherited bleeding disorders in United States Haemophilia Treatment Centres.
        Haemophilia. 2011; 17: 6-13
        • Kadir R.A.
        • Economides D.L.
        • Sabin C.A.
        • Pollard D.
        • Lee C.A.
        Assessment of menstrual blood loss and gynaecological problems in patients with inherited bleeding disorders.
        Haemophilia. 1999; 5: 40-48
        • Kadir R.
        Gynaecology.
        in: Lee C. Kadir R. Kouides P. Inherited Bleeding Disorders in Women. Wiley-Blackwell, Oxford, UK2009: 70-89
        • Kouides P.A.
        • Phatak P.D.
        • Burkart P.
        • Braggins C.
        • Cox C.
        • Bernstein Z.
        • et al.
        Gynaecological and obstetrical morbidity in women with type I von Willebrand disease: results of a patient survey.
        Haemophilia. 2000; 6: 643-648
        • Burger H.G.
        • Hale G.E.
        • Dennerstein L.
        • Robertson D.M.
        Cycle and hormone changes during perimenopause: the key role of ovarian function.
        Menopause. 2000; 15: 603-612
        • Prior J.
        The ageing female reproductive axis II: ovulatory changes with perimenopause.
        Novartis Found Symp. 2002; 242 (discussion 186-192): 172-186
        • Agarwal U.
        • El Sheikh S.
        • Kulkarni A.
        • Baff D.
        • Kadir R.A.
        Von Willebrand factor expression in endometrial endothelial cells in women with menorrhagia.
        Fertil Steril. 2010; 94: 2335-2337
        • Kadir R.A.
        • Sabin C.A.
        • Pollard D.
        • Lee C.A.
        • Economides D.L.
        Quality of life during menstruation in patients with inherited bleeding disorders.
        Haemophilia. 1998; 4: 836-841
        • Shankar M.
        • Chi C.
        • Kadir R.A.
        Review of quality of life: menorrhagia in women with or without inherited bleeding disorders.
        Haemophilia. 2008; 14: 15-20
      1. Geukes M, van Aalst MP, Nauta MCE, Oosterhof H. The impact of menopausal symptoms on work ability. Menopause [Internet]. 2011 Oct 7 [cited 2012 Feb 4]; Available from: http://www.ncbi.nlm.nih.gov/pubmed/21997498.

        • Cramer D.W.
        Epidemiology of myomas.
        Semin Reprod Endocrinol. 1992; 10: 320-324
        • Kirtava A.
        • Drews C.
        • Lally C.
        • Dilley A.
        • Evatt B.
        Medical, reproductive and psychosocial experiences of women diagnosed with von Willebrand's disease receiving care in haemophilia treatment centres: a case-control study.
        Haemophilia. 2003; 9: 292-297
        • Lee C.A.
        • Chi C.
        • Pavord S.R.
        • Bolton-Maggs P.H.B.
        • Pollard D.
        • Hinchcliffe-Wood A.
        • et al.
        The obstetric and gynaecological management of women with inherited bleeding disorders—review with guidelines produced by a taskforce of UK Haemophilia Centre Doctors’ Organization.
        Haemophilia. 2006; 12: 301-336
        • Silwer J.
        von Willebrand's disease in Sweden.
        Acta Paediatr Scand Suppl. 1973; 238: 1-159
        • O’Brien P.M.
        • DiMichele D.M.
        • Walterhouse D.O.
        Management of an acute hemorrhagic ovarian cyst in a female patient with hemophilia A.
        J Pediatr Hematol Oncol. 1996; 18: 233-236
        • Jarvis R.R.
        • Olsen M.E.
        Type I von Willebrand's disease presenting as recurrent corpus hemorrhagicum.
        Obstet Gynecol. 2002; 99: 887-888
        • Ghosh K.
        • Mohanty D.
        • Pathare A.V.
        • Jijina F.
        Recurrent haemoperitoneum in a female patient with type III von Willebrand's disease responded to administration of oral contraceptive.
        Haemophilia. 1998; 4: 767-768
        • Vercellini P.
        • De Giorgi O.
        • Aimi G.
        • Panazza S.
        • Uglietti A.
        • Crosignani P.G.
        Menstrual characteristics in women with and without endometriosis.
        Obstet Gynecol. 1997; 90: 264-268
        • D’Hooghe T.M.
        • Bambra C.S.
        • Raeymaekers B.M.
        • Koninckx P.R.
        Increased prevalence and recurrence of retrograde menstruation in baboons with spontaneous endometriosis.
        Hum Reprod. 1996; 11: 2022-2025
        • MacLennan A.
        • Lester S.
        • Moore V.
        Oral oestrogen replacement therapy versus placebo for hot flushes.
        Cochrane Database Syst Rev. 2001; : CD002978
        • Hickey M.
        • Ambekar M.
        Abnormal bleeding in postmenopausal hormone users—What do we know today?.
        Maturitas. 2009; 63: 45-50
        • Callejon D.R.
        • Franceschini S.A.
        • Montes M.B.A.
        • Toloi M.R.T.
        Hormone replacement therapy and hemostasis: effects in Brazilian postmenopausal women.
        Maturitas. 2005; 52: 249-255
        • Post M.S.
        • van der Mooren M.J.
        • van Baal W.M.
        • Blankenstein M.A.
        • Merkus H.M.W.M.
        • Kroeks M.V.A.M.
        • et al.
        Effects of low-dose oral and transdermal estrogen replacement therapy on hemostatic factors in healthy postmenopausal women: a randomized placebo-controlled study.
        Am J Obstet Gynecol. 2003; 189: 1221-1227
        • Guimarães D.A.M.
        • das Graças Carvalho M.
        • Cardoso J.
        • de Oliveira Sousa M.
        • Franco R.M.
        • de Almeida Franco H.
        • et al.
        Assessment of hypercoagulability markers and lipid levels in postmenopausal women undergoing either oral or transdermal hormone replacement therapy.
        J Thromb Thrombolysis. 2009; 27: 135-140
        • Stevenson J.C.
        HRT and cardiovascular disease.
        Best Pract Res Clin Obstet Gynaecol. 2009; 23: 109-120
        • Gale A.
        • Dey P.
        Postmenopausal bleeding.
        Menopause Int. 2009; 15: 160-164
        • Lee C.A.
        • Chi C.
        • Shiltagh N.
        • Pollard D.
        • Griffioen A.
        • Dunn N.
        • et al.
        Review of a multidisciplinary clinic for women with inherited bleeding disorders.
        Haemophilia. 2009; 15: 359-360
        • Keeling D.
        • Tait C.
        • Makris M.
        Guideline on the selection and use of therapeutic products to treat haemophilia and other hereditary bleeding disorders. A United Kingdom Haemophilia Center Doctors’ Organisation (UKHCDO) guideline approved by the British Committee for Standards in Haematology.
        Haemophilia. 2008; 14: 671-684
        • Edlund M.
        • Blombäck M.
        • Fried G.
        Desmopressin in the treatment of menorrhagia in women with no common coagulation factor deficiency but with prolonged bleeding time.
        Blood Coagul Fibrinolysis. 2002; 13: 225-231
        • Kadir R.A.
        Menorrhagia: treatment options.
        Thromb Res. 2009; 123: S21-S29
        • Chi C.
        • Huq F.Y.
        • Kadir R.A.
        Levonorgestrel-releasing intrauterine system for the management of heavy menstrual bleeding in women with inherited bleeding disorders: long-term follow-up.
        Contraception. 2011; 83: 242-247
        • Kingman C.E.C.
        • Kadir R.A.
        • Lee C.A.
        • Economides D.L.
        The use of levonorgestrel-releasing intrauterine system for treatment of menorrhagia in women with inherited bleeding disorders.
        BJOG. 2004; 111: 1425-1428
        • James A.H.
        • Myers E.R.
        • Cook C.
        • Pietrobon R.
        Complications of hysterectomy in women with von Willebrand disease.
        Haemophilia. 2009; 15: 926-931
        • Castaman G.
        • Rodeghiero F.
        • Tosetto A.
        • Cappelletti A.
        • Baudo F.
        • Eikenboom J.C.J.
        • et al.
        Hemorrhagic symptoms and bleeding risk in obligatory carriers of type 3 von Willebrand disease: an international, multicenter study.
        J Thromb Haemost. 2006; 4: 2164-2169
        • Bolton-Maggs P.H.B.
        • Perry D.J.
        • Chalmers E.A.
        • Parapia L.A.
        • Wilde J.T.
        • Williams M.D.
        • et al.
        The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors’ Organisation.
        Haemophilia. 2004; 10: 593-628
        • Huq F.Y.
        • Al-Haderi M.
        • Kadir R.A.
        The outcome of endometrial ablation in women with inherited bleeding disorders.
        Haemophilia: Off J World Fed Hemophilia. 2011; ([Epub. ahead of print])
        • Lee C.
        • Berntorp E.
        • Hoots W.
        • Aledort L.
        Textbook of Hemophilia.
        Blackwell Publishing Ltd., Massachusetts2005
        • Kouides P.A.
        • Philipp C.
        Approach to the patient with an inherited bleeding disorder.
        in: Lee C. Kadir R. Kouides P. Inherited bleeding disorders in women. Blackwell Publishing Ltd., Massachusetts2009