The First European Conference on Women and Bleeding Disorders Frankfurt, Germany, 24-26 May 2019

<abstract xmlns="http://www.w3.org/1999/xhtml"><p>The prevalence and impact of bleeding disorders in women is not sufficiently acknowledged, with the organisation of care traditionally biased towards boys and men with haemophilia. In 2017, the European Haemophilia Consortium surveyed women with bleeding disorders, national member organisations (NMOs) and treatment centres to assess the impact of bleeding disorders in women in four domains: physical activity, active life, romantic and social life, and reproductive life. Most women had von Willebrand disease (VWD) or described themselves as a carrier. All reported a negative impact on physical activity, active life and romantic and social life. Up to 70% of women in all groups reported that their bleeding disorder had a significant impact on their ability or willingness to have children, or prevented it. Heavy menstrual bleeding was reported as the having the most significant impact on daily life. Women face barriers to diagnosis and care, including difficulty obtaining a referral and lack of knowledge among general practitioners and gynaecologists. While bleeding disorders share many symptoms, including bleeding after minor injury and trauma, the link between heavy menstrual bleeding and a bleeding disorder often goes unrecognised and its severity is underestimated. Screening is not offered to all eligible women despite the availability of long-established management guidelines; clinical tools to estimate severity may be unreliable. Failure to recognise a bleeding disorder in a woman is a multifactorial problem that is partly due to cultural reluctance to discuss menstruation. Public awareness campaigns are seeking to correct this, and many NMOs involve women in their initiatives and provide women-centred activities. However, a transformation in diagnosis is needed to shift the focus of treatment centres beyond boys and men with haemophilia, and to acknowledge the prevalence and severity of bleeding disorders in women.</p></abstract>

Bleeding disorders in girls and women: setting the scene

<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Haemophilia is an X-linked inherited disorder that affects males and females, though the bleeding risk in girls and women has traditionally been under-recognised. About one third of haemophilia cases occur in individuals where there is no known family history. The gene mutations for rare bleeding disorders are not carried on the X chromosome and are therefore not sex-linked; however, the risk of passing on the condition is greatly increased for consanguineous parents where both parents may carry a copy of the fault in the genetic code which causes the condition. Genetic testing should be offered to every prospective mother, ideally before conception. This should be supported by counselling as the implications for family planning are profound.</p><p>Von Willebrand factor (VWF) has an important role in primary and secondary haemostasis. Loss of function or low levels of VWF are associated with spontaneous bleeding causing nosebleeds, heavy periods and bruising as well as jpost-surgical bleeding. Joint bleeding and intracranial haemorrhage can also occur in those with a severe type of VWF. Diagnosis depends on bleeding assessment, family history and measurement of VWF. There are three types of VWD: Types 1 and 3 are caused by low or absent levels of VWD; Type 2 is caused by loss of function. Of these, Type 3 VWD is associated with the most severe bleeding risk but there is wide variation in bleeding phenotype among the other sub-types. The correlation between genetic mutation and bleeding phenotype is weak in VWD; therefore genetic testing is mainly useful for interpreting the risk when planning a family and to allow prenatal diagnosis in severe bleeding disorders.</p><p>Genetic testing is essential for prospective parents to make fully informed decisions about having a family and how or whether to proceed with a pregnancy. The rationale for prenatal testing is to determine the bleeding status of the foetus and to inform decisions about managing delivery. Women may choose to terminate a pregnancy to avoid having a child with severe haemophilia. For some couples the option of adoption or not having children may be explored. Options for prenatal diagnostic testing include non-invasive methods, e.g. assessment of free foetal DNA in maternal plasma to determine the sex of a baby from 10 weeks in pregnancy, and invasive methods, e.g. chorionic villus sampling or amniocentesis, to determine the inheritance of the genetic mutation. Invasive methods are associated with a very small increased risk of pregnancy loss or early labour, which many couples feel is an unacceptable risk. Advanced techniques such as preimplantation screening also available, but require a huge commitment as this involves an IVF technique.</p></abstract>

Genetics 101: understanding transmission and genetic testing of inherited bleeding disorders

<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Figures in the World Federation of Hemophilia (WFH) global annual survey indicate, by their absence, that there is under-recognition of bleeding disorders in women. The WFH and its national member organisations (NMOs) are working to raise awareness and improve the diagnosis of care of women with bleeding disorders globally, regionally and locally. WFH initiatives include a global programme focused on improving the diagnosis, care and treatment of women with von Willebrand disease (VWD), and programmes involving education and training in conjunction with NMOs in countries including Honduras and Malaysia. NMOs in Slovakia, Latvia and Sweden describe their local activities. The Slovak Hemophilia Society is in the process of establishing a Women’s Committee and considers peer support and network building as essential tools in addressing the issues faced by women with bleeding disorders. In Latvia, access to resources is difficult and von Willebrand factor is not available. There is concern in the Latvia Hemophilia Society that the fundamental human right of access to healthcare is not being met. It supports WFH initiatives through education and advocacy, and believes that the voices of women with bleeding disorders will be better heard through working together. The Swedish Hemophilia Society’s Women’s Project has worked since 2006 to promote better care for women with bleeding disorders and to raise public awareness. Despite resistance, their campaign to increase the identification of girls and women with VWD, improve diagnosis and care, and raise awareness has been well received by healthcare professionals and has had extensive media coverage.</p></abstract>

Raising awareness globally for women with inherited bleeding disorders: World Federation of Hemophilia Symposium

<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Prolonged menstrual bleeding interferes with daily life and causes marked blood loss, resulting in anaemia and fatigue. Treatment centres should address the issue of heavy menstrual bleeding (HMB) with pre-pubertal girls in advance of their first period, in order to best prepare them. It is common for a bleeding disorder to be overlooked in primary care and in gynaecology clinics, and women sometimes struggle to get a correct diagnosis. There are cultural taboos that inhibit open discussion of menstruation, and women tend to minimise the severity of their symptoms. Health professionals should work to destigmatise the issue and seek an accurate account of bleeding severity, with diagnosis and treatment provided in a joint clinic combining gynaecology and haematology expertise. Treatment should be individualised, taking into account personal, social and medical factors, with the aim of improving quality of life. Great care is needed with regard to choice of language when talking about treatment, and treatment centres should consider offering open access to women who need support in dealing with adverse effects. National member organisations have an important role to play in educating people with bleeding disorders, health professionals and the wider public about the burden of HMB associated with bleeding disorders.</p></abstract>

Preparing for menarche: treatment and management of heavy periods in women with bleeding disorders

<abstract xmlns="http://www.w3.org/1999/xhtml"><p>The symposium focused on issues around surgery, ovulation bleeding, health-related quality of life (HRQoL) and pelvic pain in women with bleeding disorders.</p><sec id="j_jhp00142_s_007_w2aab3b7c29b1b6b1aab1c14b2Aa"><h3>Surgery</h3><p>Young women with congenital bleeding disorders, especially those with severe forms, are more likely to experience gynaecological and obstetric disorders than unaffected women. Surgery may be required to manage heavy menstrual bleeding (HMB), ovulatory bleeding, endometriosis and delivery. Major surgery should be undertaken only in hospitals with a haemophilia centre and 24-hour laboratory capability. Correction of haemostasis, either by desmopressin, coagulation factor or platelet transfusion, is essential for a successful outcome of surgery. Management of pregnancy requires a multidisciplinary approach; the mode of delivery is based on the consensus of gynaecologist and haematologist, and with respect to the patient’s diagnosis.</p></sec><sec id="j_jhp00142_s_008_w2aab3b7c29b1b6b1aab1c14b3Aa"><h3>Ovulation bleeding</h3><p>Women with bleeding disorders are at risk for excessive gynaecological bleeding associated with menstruation, ovulation, pregnancy and delivery. Ovulation bleeding is associated with the rupture of ovarian cysts and causes abdominal pain; complications include haemoperitoneum, fertility problems and ovarian torsion. Management includes hormonal and haemostatic therapies, in combination if necessary, and surgery as a last resort. Current management is based on experience in a relatively small number of cases and more clinical data are needed.</p></sec><sec id="j_jhp00142_s_009_w2aab3b7c29b1b6b1aab1c14b4Aa"><h3>Health-related quality of life</h3><p>In addition to experiencing joint and tissue bleeds, women experience psychosocial and medical issues associated with menstruation, pregnancy, labour and delivery. HMB has the greatest impact, and is associated with impaired HRQoL in almost all and dissatisfaction with the burden of treatment. There is a need for focused psychosocial support and a specific tool for the assessment of HRQoL in women with bleeding disorders.</p></sec><sec id="j_jhp00142_s_010_w2aab3b7c29b1b6b1aab1c14b5Aa"><h3>Pelvic pain</h3><p>Gynaecological causes of pelvic pain in women with bleeding disorders include dysmenorrhoea, mid-cycle pain, bleeding into the corpus luteum and endometriosis. There is no correlation between bleeding tendency and endometriosis severity; however, screening for a bleeding disorder should be considered. Pharmacological management may be hormonal or non-hormonal. Gonadotrophin-releasing hormone agonists offer an alternative to surgery for women with severe bleeding disorders who have endometriosis. Paracetamol is the preferred early analgesic option. Endometrial ablation controls heavy bleeding and pelvic pain but is not recommended for women with large fibroids or a large endometrial cavity. Hysterectomy is an option of last resort. Education for health professionals should include raising awareness about the management of pain in women with bleeding disorders.</p></sec></abstract>

Gynaecological issues in women with bleeding disorders: CSL Behring Symposium

<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Iron deficiency/anaemia and periodontal disease are among the non-gynaecological issues that may present a challenge in women with bleeding disorders. Anaemia is a global health problem, affecting around 32.5% of non-pregnant women aged under 50 and over 40% of pregnant women. It causes fatigue, shortness of breath and dizziness. Anaemia is usually diagnosed by a low serum level of ferritin. Ferritin may be normal in a person who is taking an iron supplement or in the presence of inflammation, in which case the diagnosis can be confirmed by a low transferrin saturation level. A low level of iron should be corrected in a woman with a bleeding disorder, and women must recognise the importance of doing so. If a healthy diet alone does not avoid iron deficiency, oral supplementation is indicated on a low dose regimen to reduce adverse effects; intravenous administration should be used when rapid restoration of iron is indicated. Failure to respond to iron supplementation is an indication for further investigation. Periodontal disease has only recently been recognised as a modern-day epidemic and can have a major impact on quality of life. Oral health has long been ignored in people with a bleeding disorder as bleeding gums secondary to periodontitis are often attributed to the underlying condition. People with a bleeding disorder may therefore feel they can do nothing to improve their oral health. However, healthy gums do not bleed, even in people with a bleeding disorder. While bleeding gums are often accepted as a consequence of having a bleeding disorder, effective cleaning has been shown to reduce gingivitis and bleeding. Regular contact with a dentist should start at a young age and continue throughout life.</p></abstract>

Non-gynaecological issues in women with bleeding disorders

<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Men and women with bleeding disorders have similar symptoms but their experiences are different. It has been shown that women with a bleeding disorder rate their quality of life on a par with that of men with haemophilia who have HIV. Many factors determine quality of life, ranging from delay in diagnosis, to access to treatment and support from family and friends. Women should ask themselves what is important to them and recognise the barriers that determine whether they can achieve their aims in life. Quality of life instruments do not measure the impact of these disorders in a way that is specific to women. Psychosocial health – i.e. the mental, emotional, social, and spiritual aspects of what it means to be healthy – can have a major impact on quality of life. Women with bleeding disorders face a number of challenges to their psychosocial health. They struggle to be believed, they live with guilt, and they may have to fight for the best care for their children. They face obstacles to building relationships and their experiences can leave them isolated. Perhaps because of this, women with bleeding disorders are strong – but they also need to be encouraged to make time for themselves and look after their mental health.</p></abstract>

Everyday issues in women with bleeding disorders

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The Journal of Haemophilia Practice

 The Journal of Haemophilia Practice is an international, open-access, peer-reviewed journal that aims to provide a forum for all members of the multidisciplinary bleeding disorders care team.   It is now widely recognised that the care and management of people with haemophilia and other rare bleeding disorders should always be based on a multidisciplinary approach, with value placed on the specific expertise brought by allied health care professionals, including nurses, physiotherapists, data managers, social workers, and psychologists. We believe that sharing experience on evidence-based care, and understanding the lived experience of rare bleeding disorders, helps to promote expertise and benefits patients.   Any manuscript that is relevant to current bleeding disorders care and practice will be considered for review and publication. To this end, we positively welcome:        Original research    Case reports    Case series    Methodology papers   Reviews in any field of bleeding disorders of relevance to current clinical practice   Clinical Updates that describe current advances in any clinical field related to bleeding disorders   Editorials that address a particular topic of current interest.   Outcomes research written by and/or with individuals affected by bleeding disorders    Please note that case reports should meet the standards outlined in the CARE Case Report Guidelines. Authors submitting case reports are advised to consult the CARE Checklist.   Manuscripts should be submitted to The Journal of Haemophilia Practice via ScholarOne (see Submit). All manuscripts will first be subject to a technical review, including a quality check of all files submitted and including a plagiarism check. Manuscripts will then be reviewed by the Editor-in-Chief, who will decide whether or not to proceed to peer review. The journal operates a double-blind peer review process. The review procedure will result in one of four decisions:        Immediate accept   Minor revision   Major revision   Reject        The editorial decision will be communicated to the authors as soon as the review process has been finalised. In case of revisions, the revised article may be sent back to review before a decision is made on acceptance.   The estimated time from manuscript submission to first decision is 4 to 6 weeks and from the final revision to acceptance is approximately 2 weeks. The authors will receive a proof of their article in order to confirm the accuracy of the text prior to publication.   Copyright and Licensing   All articles published in The Journal of Haemophilia Practice are open access. From 2024 onwards, articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International license (CC BY-NC-ND 4.0) which permits use and distribution in any medium provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.   Fees and Funding   The Journal of Haemophilia Practice is owned, managed and funded by Haemnet Ltd.     The journal has no author submission charges. From 1 January 2024, to help cover the publishing costs of the journal, article processing charges (APCs) will be applied to manuscripts accepted for publication. APC waivers are available in some circumstances. Full details can be found in the journal’s Editorial Policies and Publication Ethics.   Plagiarism Policy   We are committed to ensuring that content published in The Journal of Haemophilia Practice is original and trustworthy. All manuscripts submitted to the journal are screened using iThenticate similarity checking software as part of a process that aims to eliminate plagiarism and provide a high standard, quality peer-review process.   For further information on the journal’s editorial policies and publication ethics, please see documentation listed under the ‘For Authors’ tab.   Archiving   Sciendo archives the contents of this journal in Portico, a long-term digital preservation service for scholarly books, journals, and collections. 