Karen Strike, Anthony Chan, Monica R. Maly and Patricia Solomon
Background: In patients with haemophilia, evidence suggests that the physical examination alone is not sensitive enough to detect small amounts of blood within a joint. Attention has shifted to methods of improving the sensitivity of the physical examination through adding diagnostic modalities such as point-of-care ultrasonography (POC-US). Proficiency with the physical examination and understanding of the role of POC-US are important competencies for physiotherapists. Despite training, implementation of POC-US by physiotherapists in haemophilia treatment centres in Canada has been mixed.
Aim: Using a theory-based approach, the aim of the current study is to achieve expert consensus regarding the barriers to physiotherapy performed POC-US in haemophilia treatment centres in Canada using a modified Delphi approach.
Materials and Methods: Using the Knowledge-to-Action Framework and the Consolidated Framework for Implementation Research (CFIR), a modified Delphi approach was completed using the Modified BARRIERS Scale (MBS). Participants were blinded and consensus was reached over three rounds at the Canadian Hemophilia Society’s annual three-day conference.
Results: Twenty-two physiotherapists participated; 20 participants completed Round 1, and 21 completed Rounds 2 and 3. Four items of the MBS reached consensus: 1) The physiotherapist does not have time to read research related to POC-US; 2) The physiotherapist is isolated from knowledgeable colleagues with whom to discuss POC-US; 3) Administration will not allow POC-US implementation; 4) There is insufficient time on the job to implement new ideas. All four consensus items can be mapped to one domain of the CFIR: the inner setting.
Conclusion: The haemophilia treatment centre within a healthcare organisation appears to be an important target for addressing barriers to the implementation of physiotherapy performed POC-US.
Naja Skouw-Rasmussen, Michelle Lavin and Minette van der Ven
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.
Srila Gopal, Richard FW Barnes, Doris V Quon, Hao Wei Linda Sun, Shannon Jackson and Annette von Drygalski
Background: Patients with haemophilia have a higher prevalence of hypertension than the general population that cannot be explained by traditional cardiovascular risk factors such as age, race, diabetes or obesity. Patients with severe haemophilia, who are on clotting factor prophylaxis, have a higher prevalence of hypertension compared to patients with milder forms of haemophilia, who infuse clotting factor less frequently. This raises the question of whether there is a link between clotting factor usage and blood pressure in haemophilia patients.
Methods: Data was collected from 193 patients with severe haemophilia presenting to three haemophilia treatment centres in the United States and Canada, including age, body mass index (BMI), blood pressure (BP), Hepatitis C (HCV) and Human Immunodeficiency Virus (HIV) infection status, and clotting factor usage from pharmacy prescriptions (units/kg/year). The correlation between BP and factor usage was examined using quantile regression models.
Results: Systolic and diastolic BP plotted against factor use showed a cone-shaped scatter of points. There was no association between clotting factor usage and higher systolic or diastolic BP.
Conclusion: Our observations provide no evidence for an association between increased clotting factor usage and high BP.
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.