Karen Strike, Anthony Chan, Monica R. Maly and Patricia Solomon
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5. Melchiorre D, Linari S, Innocenti M, et al. Ultrasound detects joint damage and bleeding in haemophilic arthropathy: a proposal of a score. Haemophilia 2011; 17(1): 112–7. doi: 10.1111/j.1365-2516.2010.02380.x.
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Paul McLaughlin, Melanie Bladen, Mike Holland and Kate Khair
1. Poonnoose PM, Manigandan C, Thomas R, et al. Functional Independence Score in Haemophilia: a new performanceSbased instrument to measure disability. Haemophilia 2005; 11: 598S602.
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, et al. A United Kingdom Haemophilia Centre Doctors' Organization guideline approved by the British Committee for Standards in Haematology: guideline on the use of prophylactic factor VIII concentrate in children and adults with severe haemophilia A. Br J Haematol 2010; 149: 498-507.
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Courtney Schroeder, Richard Fw. Barnes, Lena Volland, Sonha Nguyen and Annette von Drygalski
. Hamostaseologie 2014; 34 (Suppl 1): S13-6. doi: 10.5482/HAMO-14-01-0003.
20. Stemberger M, Schmit E, Kurnik K, Spannagl M. Motivational effects of top rope climbing therapy under individualized prophylaxis: a pilot study in young adults with severe haemophilia. Haemophilia 2015; 21: e504-7. doi: 10.1111/hae.12773.
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Piet de Kleijn, David Sluiter, Kathelijn Fischer, Charles Vogely, Eveline P. Mauser-Bunschoten and Roger Schutgens
This paper presents a long-term follow-up (mean 6 years) of three cases, providing insight into individual changes in self-reported activities of persons with haemophilia (PWH) who underwent multiple joint procedures (MJP). The procedures include one bilateral ankle pan arthrodesis by means of an ankle arthrodesis nail (case 1) and two times bilateral total knee arthroplasty (TKA), both type Genesis II (cases 2 and 3). MJP are defined as any combination of total hip arthroplasty (THA), total knee arthroplasty (TKA) and ankle arthrodesis (AA) during one hospital admission (one session or staged). The results of MJP need meticulous long-term follow-up, including tools with the capacity to provide detailed measurements for levels of activity. Measurements performed before and after surgery included active range of motion (AROM), the Hemophilia Activities List (HAL) sub-scores for basic and complex lower extremity and the McMaster Toronto Arthritis patient disability questionnaire (MACTAR). Pain scores were only available post-surgery and were by means of a visual analogue scale (VAS), 0 indicating no pain and 10 maximum pain. Post-operative VAS scores were 0.3 on average (range 0-1), indicating only minimal pain. Pre-operative pain was the actual indication for MJP. However, it was measured with a different score, the WFH score. Regarding post-operative AROM, case 1 showed a decreased ankle plantar flexion averaging 15˚ (range 10-20˚) and dorsiflexion averaging 7.5˚ (range 5-10˚), results expected after surgical fixation of the tibiotalar joint. Cases 2 and 3 showed an increased active flexion of both knee joints, on average 6° (range 5-10˚), and extension of 11° (range 0-20˚). From these two cases the HAL showed improvement in both basic (Δ 40 and Δ 30) and complex lower extremity (Δ 40 and Δ 3,5) activities. When considering the standard deviations of the HAL normalised total score of 18, it can be appreciated that these improvements are clinically relevant (effect size Δ 1). The MACTAR showed individual progress, with emphasis on walking, standing, riding a bicycle and walking stairs. These MJP cases provide insight on the benefits of self-reported activities, as well as the relationship between body and activity of the ICF. For the long-term follow-up of this very specific population, self-reported activities should be included.
James Munn, Kate Khair, Andrew Scott, Robyn Shoemark, Julia Spires, Morten Lind Jensen and Reto Wirz
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.
Sabia Rashid, Patricia Bignell, David Keeling and Nicola Curry
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.
People with haemophilia may neglect their oral hygiene due to the fear of bleeding during brushing, leading to an increase in dental caries, gingivitis and periodontitis in this group. The available literature shows very few studies on the oral health status of children with haemophilia. The aim of the current study, therefore, was to assess the oral health status of children with haemophilia in comparison with healthy children. Data were collected from a study and control groups of haemophilic and healthy children aged 6-16 years. All children were examined under standardised conditions by a single qualified examiner and Plaque Index (PI), Modified Gingival Index (MGI) and permanent decayed, missing, and filled teeth (DMFT) and primary dmft index were recorded. A questionnaire distributed to the parents was analysed using Chi-Square and Kruskal-Wallis test, and showed a significant difference in GMI and DMFT and dmft scores between the study and control groups, a lower level of parental education level in the study group, a difference in the frequency of tooth brushing between the two groups, and a statistically higher frequency of sugar consumption among the children with haemophilia. The study concluded that children with haemophilia have poor oral health status compared to healthy children. Parental education levels, beliefs and attitude towards dental health have an impact on the child’s overall dental health. This indicates a need for early intervention by dental services as a preventive measure for children with haemophilia.
Sylvia von Mackensen, Karin Lindvall, Sölve Elmståhl and Erik Berntorp
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19. Hilliard P, Funk S, Zourikian N, et al. Hemophilia joint health score reliability study