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.
Eugenia Biguzzi, Karin van Galen and Rezan A Kadir
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.
Angelika Batorova, Karin van Galen, Sylvia von Mackensen, Ioannis Tsimpanakos and Evelyn Grimberg
The symposium focused on issues around surgery, ovulation bleeding, health-related quality of life (HRQoL) and pelvic pain in women with bleeding disorders. Surgery: 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. Ovulation bleeding: 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. Health-related quality of life: 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. Pelvic pain: 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.
We describe the case of a patient with severe haemophilia A and significant comorbidities who underwent surgery to remove a large intra-abdominal haematoma first diagnosed 12 years previously. The haemophilia team was instrumental in coordinating care, building a strong rapport with surgical and other medical teams to manage bleeding risk with continuous infusion of factor VIII (FVIII). Medical teams adjusted their working hours according to clinical need. Haemophilia nurses were available to offer support at all times, and developed management procedures and educated staff on haemophilia and its treatment. Perioperative complications included a thrombus occluding the right internal jugular vein, infection and paraesthesia. However, surgery was effective and the patient was pleased with the overall outcome. Haemophilia nurses established strong and rewarding relationships with other teams that will enhance the delivery of care in the future.
Eugenia Biguzzi, Alison Dougall and Olivia Romero-Lux
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.