health, reproductive health and social life [ 1 , 2 ] . These instruments have been extensively used to evaluate quality of life. However, they are not necessarily the best way to capture the experience of woman with bleeding disorders as they do not measure the impact of these disorders in a way that is specific to women. They are designed for use in research settings rather than to identify how an individual is coping with a disorder. Factors influencing quality of life for an individual Men and womenwithbleedingdisorders share some symptoms, but others are
Detection and management of iron deficiency and anaemia in womenwithbleedingdisorders Anaemia is a low blood level of haemoglobin. In cases of anaemia, oxygen delivery to all parts of the body is reduced, causing fatigue, shortness of breath and dizziness; a person with anaemia may have a pale skin. It is a global health problem, which in 2016 had a prevalence of around 32.5% among non-pregnant women aged 15–49, and over 40% in pregnant women [ 1 , 2 ] . Prevalence varies widely between communities and countries due to differences in economic status and
gynaecological or obstetric indications ( Figure 1B); 16 procedures were performed in women with severe FVII deficiency. Either plasma-derived FVII or recombinant FVIIa were employed for factor replacement. Due to a short FVII half-life (four to six hours) FVII concentrates were administered every six hours on days 1–4, reducing to every eight hours on days 5–7, and 12-hourly on days 8–10 in patients undergoing major surgery. Figure 1B Obstetric and gynaecological-related surgeries in women with FVII deficiency in Slovakia 1998–2019 Delivery in womenwithbleedingdisorders
disorder were to report an annual bleed rate of 12, clinical alarm bells would ring; however, women tend not to receive the same degree of attention when experiencing heavy periods. Table 1 Prevalence of menorrhagia in womenwithbleedingdisorders [ 1 ] DISORDER PREVALENCE (%) Von Willebrand disease 32-100 Platelet dysfunction Glanzmann’s thrombasthenia 51 Bernard-Soulier syndrome 13-98 Haemophilia 10-57 Factor XI deficiency 59 Factor XIII deficiency 35-64 Rare factor deficiencies 35-70 Talking about heavy periods There are cultural taboos that inhibit
The WFH and womenwithbleedingdisorders The 2017 World Federation of Hemophilia (WFH) annual global survey included over 315,000 people with a bleeding disorder [ 1 ] . The results revealed a marked disparity in apparent gender distribution between haemophilia on one hand and von Willebrand disease and other bleeding disorders on the other. According to these data, women account for only 3% of people with haemophilia A and 5% of those with haemophilia B, whereas 61% of people with von Willebrand disease (VWD) are women. The figures for haemophilia are
Women and bleeding disorders in Europe: Results from the EHC survey Every year, the European Haemophilia Consortium (EHC) conducts an annual survey of its membership about a topic associated with bleeding disorders. In 2017, the survey focused on women – a group within the bleeding disorders community that has historically been overlooked and about whom there is little scientific information – to determine how the EHC can act to raise awareness. The survey addressed four key areas: Identifying womenwithbleedingdisorders Access to diagnosis Access to treatment
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.
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.
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.
bleedingdisorders. Rezan Kadir Rezan Kadir is a consultant obstetrician and gynaecologist with a special interest in womenwithbleedingdisorders and foetal medicine at the Royal Free Hospital. She is also an honorary reader with the University College School of Medicine. She has set up a multi-disciplinary clinic in the haemophilia centre at the Royal Free Hospital, which is jointly run with a haemophilia specialist, haemophilia nurse, family counsellor and therapists. This clinic has been unique in providing comprehensive care for women in families with bleeding
interviews highlight the need for a personalised approach to transition, be it young people developing the skills to successfully manage their condition in adult services; services providing support for families and carers to be comfortable with the changes underway; or the provision of planned transition for young people across all bleeding disorders and severities. The interviews also reinforce the need to continue to address the specific needs for womenwithbleedingdisorders as they transfer to adult services, including access to clinicians who are comfortable and
and serve womenwithbleedingdisorders and others affected by a bleeding disorder. In 2015, it organised a preconference workshop entitled Starting a European Conversation for WomenwithBleedingDisorders at its annual scientific conference in Belgrade, Serbia. The work of a group of dedicated volunteers from across Europe, has since enabled the EHC to build on this foundation to increase its focus on women, organising sessions specific to issues concerning womenwithbleedingdisorders at scientific conferences, youth debates and its annual Leadership