Volume 3 (2016): Issue 1 (January 2016)

The long-awaited results of the SIPPET (Survey of Inhibitors in Plasma-Products Exposed Toddlers) study were recently presented during a plenary session at the American Society of Hematology (ASH) conference in December 2015.

In a recent editorial published in Haemophilia, Millar asks ‘Why and how do we classify von Willebrand disease?’ [1]. This may seem like a philosophical question, but two case reports in this edition of The Journal of Haemophilia Practice illustrate good practical answers to both parts of the question.

Pain is a phenomenon that accompanies a person with haemophilia (PWH) and many others with bleeding disorders from birth to death. Caregivers are not immune. For you cannot provide care, either as a loved one or a health care provider, and watch someone in pain without experiencing pain yourself.

Pain is a major problem in haemophilia patients’ lives. The perspective of pain in such patients is unique and may be different from other chronic illnesses. This qualitative hermeneutic phenomenological study aims to describe and interpret pain experience of haemophilia patients. Participants were selected from a haemophilia clinic affiliated with Shiraz University of Medical Sciences, Shiraz, Iran. Taking the main theme, “pain: the voiceless scream in every moment of haemophilia life”, with two subthemes, “a life full of pain” and “describing complex pain quality”, data was collected using semi-structured in-depth interviews and field notes, and thematic analysis conducted using van Manen’s methodological framework for reflective hermeneutic interpretation. The findings indicated that pain always accompanied the lives of haemophilia patients. Participants experienced acute intense pains, accompanied by bleeding, which were described as “terrible”, “severe”, “intolerable” and “unbelievable”. As joints became damaged over time, participants experienced persistent pain that was “continuous” and “constant”. Participants also coped with ever-present pain in immobile joints, described as “intense”, “annoying” and “intolerable”. This qualitative study shows that pain is present throughout haemophilia patients’ lives and that they experience different kinds of pain, demonstrated through various descriptions. By understanding the experience of pain from the perspective of haemophilia patients, nurses and healthcare workers can provide high-quality care focused on their unique needs.

Little is known about the experience of living with mild haemophilia. Clinically, many patients do not present promptly for health care following a bleed. Our aim in this study was to gain an understanding of the experiences of people living with mild haemophilia, and what influences their decision to access or not access healthcare following a bleed. A qualitative phenomenological study using semistructured, digitally recorded interviews, analysed using Colaizzi’s interpretive phenomenological analysis. Eight patients with mild haemophilia, median age 52 (range 26- 83) were interviewed. Two themes emerged: Accessing healthcare: Participants managed small bleeds or injuries at home and employed the RICE (rest, ice, compression, elevate) principle. The majority employed a “wait and see” strategy to judge whether the bleed was significant. Pain helped them determine whether they needed to access healthcare services. There was strong resistance to attending an Accident and Emergency (A&E) department because of long waiting times, perceived lack of A&E staff knowledge about managing haemophilia, and fear of not receiving medication promptly. Living with mild haemophilia: The time at which participants first knew they had mild haemophilia ranged from early childhood to adulthood. When sharing their haemophilia status with friends, schools and employers some felt supported, while others were more reticent, finding that restrictions were placed on them once it was disclosed. The impact of living with mild haemophilia varied from very little to a great deal. For most, it did not prevent active involvement in sports. Most were not concerned about having children, but some feared haemophilia being passed on to future generations. Work is required to encourage people with mild haemophilia to access health care more promptly following a bleed. Guidelines regarding the care and management of haemophilia need to be readily available to A&E staff. Recognition is needed that “mild” may not appear mild to the patient.

The experience of living in a non-metropolitan area and parenting a child with haemophilia is relatively unknown. Using Interpretive Phenomenological Analysis (IPA), the following study explored the experiences of seven parents, from which four themes emerged: ‘bearing the brunt of diagnosis’ captures the impact of the diagnosis; ‘if you can’t help me, who can?’ reveals experiences with the health system; ‘tackling the challenge of treatment’ encompasses difficulties in adhering to the treatment regime; ‘I need you to understand’ reflects desires for others support and understanding. These themes should be considered when developing support systems and interventions for parents living in non-metropolitan areas.

Prophylactic coagulation factor replacement is increasingly the treatment modality of choice for people with haemophilia (PWH). Currently available recombinant factor products require reconstitution from a lyophilised powder and diluent, and a range of infusion systems is available to assist in this process. This study aimed to understand the properties of a reconstitution/infusion system that are most important to PWH and carers of children with haemophilia (CWH), and to assess two available systems produced by Novo Nordisk for the reconstitution and infusion of activated recombinant factor VII and recombinant factor VIII: the original infusion system and the newer MixPro® system. Both were tested by a group of 67 PWH or carers of CWH who were naïve to them. Participants rated the performance of each system against 18 predefined parameters using the 7-point Likert scale, and ranked the importance of these parameters to the design of an infusion system. They also directly compared the performance of the two systems and provided qualitative feedback. Overall, MixPro® was preferred to the original system by 94% of study participants. This was reflected in the performance scores for individual parameters, with scores in 16/18 parameters being significantly higher for MixPro® (p<0.05) than the original system. Low contamination risk was seen as the most important criterion in the design and choice of an infusion system, with 97% regarding MixPro® as the superior system in this category. The MixPro® system was perceived as being quick, easy to use, convenient and portable. It is hoped that these findings may help guide the future design of infusion systems for PWH.

Haematuria is not uncommon in people with haemophilia and is mainly caused by spontaneous haemorrhage or trauma. The frequency and clinical significance of urinary schistosomiasis in the aetiology of haematuria among haemophiliacs in schistosomiasis endemic countries such as Nigeria have not been previously studied. We retrospectively analysed the clinical and laboratory data of 45 haemophiliacs with haematuria in Nigeria with the aim of determining the frequency of urinary schistosomiasis and other causes of haematuria among haemophiliacs, the haematological profiles of haemophiliacs with haematuria and the severity of schistosomal haematuria relative to non-schistosomal haematuria. Haematuria was due to spontaneous haemorrhage in 23 (51.1%) patients, trauma in 14 (31.1%) patients and schistosomiasis in 8 (17.8%) patients. There were no significant differences in mean values of haematological parameters between patients with spontaneous and traumatic haematuria. However, compared to patients with spontaneous and traumatic haematuria, patients with schistosomal haematuria had significantly lower mean Hb concentration (8.5 vs.11 and 11.5g/dL; p<0.05) and significantly higher mean eosinophil count (0.42 vs. 0.21 and 0.2×10⁹/L; p<0.05). This study revealed that schistosomiasis was responsible for 17.8% of cases of haematuria in northern Nigerian haemophiliacs. Schistosomal haematuria was severe and caused significant anaemia in contradistinction to spontaneous and traumatic haematuria that were mild and did not cause significant anaemia. A superimposed pro-haemorrhagic host-parasite relationship was responsible for the severe haematuria seen in haemophiliacs with schistosomiasis, a situation that would potential increase their risk of iron deficiency and its attendant consequences including childhood cognitive impairment. Haemophiliacs with haematuria in schistosomiasis endemic countries should be investigated by urinalysis for early detection and treatment. Haemophiliacs who present with haematuria in association with eosinophilia should evoke the strongest clinical suspicion for schistosomiasis. Parents of haemophiliacs should be counseled on how to protect their children from exposures to infected waters.

Healthy, term neonates rarely encounter problems with bleeding, despite physiological differences in their levels of clotting factors, reflected in prolongation of the prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT). Their risk of bleeding, however, is significantly increased by the presence of a severe congenital bleeding disorder. Establishing such a diagnosis can present a particular challenge, given the rarity of these conditions and the difficulty in performing and interpreting laboratory assays in this age group. However, a delay in diagnosis and implementation of appropriate treatment can result in catastrophic sequelae. Therefore, the presentation of a healthy child at birth, whose condition rapidly deteriorates as a result of bleeding, should prompt the urgent investigation of a congenital haemostatic defect and involvement of expert haematological advice. We describe a very unusual presentation of a severe bleeding disorder in the first few days of life to highlight these issues.

We report a single centre’s experience of the diagnosis and management of an uncommon form of type 2 von Willebrand disease (VWD) in members of two unrelated families. The affected patients presented with mild to moderate bleeding phenotypes and accompanying MCMDM-1 VWD bleeding assessment tool scores of 5 or less. Genetic analysis in both families confirmed a missense mutation in exon 30 of the von Willebrand factor (VWF) gene, a single base substitution T>A at nucleotide 5282 which led to change at codon 1761 from methionine to lysine (M1761K). This mutation lies within the A3 domain of the VWF protein, a region that is important for collagen binding. All affected patients were found to have normal coagulation profiles, normal VWF multimers and normal VWF assays except the VWF collagen-binding (VWF: CB) assay levels, which were significantly reduced. Desmopressin effected a good response in all treated patients, with a 3- to 5-fold rise of VWF:CB levels. However, there was variability in the degree to which VWF:CB levels remained elevated. Surgical procedures, including the delivery of one patient, were able to be managed with either desmopressin and/or tranexamic acid alone, with little need for recourse to VWF factor concentrate therapy.

Haemophilia is a rare blood clotting disorder, characteristic features of which include extemporaneous and post-traumatic subcutaneous bleeding and mucosal haemorrhages. Genetic deficiency of coagulation factor VIII results in haemophilia A, while deficiency of factor IX leads to haemophilia B. The most common treatment for haemophilia A is administration of recombinant or plasma-derived factor VIII concentrate, to raise the levels of the deficient factor VIII. Tranexamic acid is also used as an anti-fibrinolytic agent that inhibits plasminogen activators present in oral secretion and stabilises the clot. Administration of factor IX is required in haemophilia B. Treatment leads to increased longevity and quality of life for patients. Dental conditions and treatments are more complicated and uncertain in patients with haemophilia due to bleeding risk, thus restorative dental care is of paramount importance for those with haemophilia. The fear of bleeding during treatment procedures is the primary cause of lack of proper dental care for people with haemophilia in countries with limited health care resources. This case report highlights the significance of clinical examination and investigation, and the importance of proper interaction between a haematologist and the periodontist for correct multidisciplinary and uneventful management of periodontal health of a patient with haemophilia.

The role of the nurse has evolved enormously in recent years. By way of a descriptive case study, this article highlights the role of the advanced haemophilia nurse specialist. The case study serves as a focal point for discussion of how the extension of this role has enabled the provision of consistent and comprehensive care and support to patients with inherited bleeding disorders.

The Verpleegkundigen & Verzorgenden Nederland Verpleegkundig Specialisten (V&VN VS), the Dutch professional organisation representing nurse practitioners, has introduced a requirement for advanced practice (registered) nurses (APRN) who wish to be eligible for reregistration within five years to participate in a peer review group for at least eight hours per year. In 2013, five APRNs caring for people with haemophilia and other bleeding disorders in the Netherlands formed a peer review group. As no framework was available, research was undertaken through reviewing literature and engaging in exploratory discussions within the profession in order to identify best practice in establishing such a group. The initial meeting of the new peer review group agreed possible methodologies and established meeting rules. After four meetings, some initial conclusions can now be drawn on the benefits of this specialised haemophilia peer review group. Overall, it is clear that participation in a forum in which knowledge and expertise are shared, contributes to the professionalism of the APRN.

Hypertension is a well-known risk factor for ischaemic heart disease and cerebrovascular events. Globally, there is a drive to try to reduce salt intake. In an older population, where hypertension is likely to have a high prevalence, are health care professionals aware of the sodium content in replacement factor?