Paul McLaughlin

Management of muscle haematomas in patients with severe haemophilia in an evidence-poor world.

Summary.  Treatment studies in haemophilia focus on joint bleeds; however, some 10–25% of bleeds occur in muscles. This review addresses management of muscle haematoma in severe haemophilia, defines gaps in the published evidence, and presents a combined clinician and physiotherapist perspective of treatment modalities. The following grade 2C recommendations were synthesized: (i) Sport and activity should be based on individual factor levels, bleeding history and physical characteristics, (ii) Musculoskeletal review aids the management of children and adults, (iii) ‘Time to full recovery’ should be realistic and based on known timelines from the healthy population, (iv) Diagnosis should be carried out by both a clinician and physiotherapist, (v) Severe muscle bleeds should be treated similarly to surgical patients: a 50% trough for 10–14 days followed by high‐level prophylaxis, (vi) Protection, rest, ice, compression and elevation should be implemented in the acute stage, and (vii) Physiotherapy and rehabilitation should be divided into: control of haemorrhage (phase 1); restoration of Range of Movement (ROM) and strength (phase 2); functional rehabilitation and return to normal living (phase 3). Recommendations specifically for inhibitor patients include: (i) Minor to moderate bleeds should be managed by home‐treatment within 1 h of bleed onset using either one injection of rFVIIa 270 μg kg−1, or two to three injections of rFVIIa 90 μg kg−1 (2–3 h intervals), or FEIBA 50–100 U kg−1 (repeated at 12‐hourly intervals, if necessary) and (ii) Severe muscle bleeds should be supervised by the treatment centre and include bypassing agents until clinical improvement is observed.

A case–control study assessing bone mineral density in severe haemophilia A in the UK

It has been shown that bone mineral density (BMD) may be lower in patients with haemophilia (PWH). A comparison to control subjects is required to thoroughly assess current BMD in PWH in the UK. The objective of this study was to test the hypothesis that BMD is lower in PWH than in controls, and in patients with more severely affected joints or lower activity levels. In this case–control study, 37 patients with severe haemophilia A were recruited from two haemophilia centres in the UK. A group of 37 age, gender and ethnicity‐matched control participants were recruited. All participants had a bone density scan, a musculoskeletal assessment, a blood test for vitamin D and completed a functional activity questionnaire. Of the case group, 5% had osteoporosis and 24% had BMD lower than expected for age. No control participants had osteoporosis, 3% had osteopenia and 14% had BMD lower than expected for age. Ninety one per cent of case participants and 92% of control participants had reduced 25(OH)D levels. Case participants had significantly lower BMD than control participants, and case participants with more severely affected joints, lower activity levels, HIV, history of hepatitis C or lower BMI had significantly lower BMD. Patients with severe haemophilia have a higher risk of low BMD than men without haemophilia. Patients with more severely affected joints and lower activity levels have lower BMD. It remains unclear whether patients with low BMD reached adequate peak bone mass. Low vitamin D may be present in the majority of PWH.

Knee arthropathy: when things go wrong

Summary.  Joint bleeding, or haemarthrosis, is the most common type of bleeding episode experienced by individuals with haemophilia A and B. This leads to changes within the joints, including synovial proliferation, which results in further bleeding and chronic synovitis. Blood in the joint can also directly damage the cartilage, and with repeated bleeding, there is progressive destruction of both cartilage and bone. The end result is known as haemophilic arthropathy which is characterized by pain, stiffness and deformity. The joint most commonly affected is the knee. Haemophilic arthropathy can be prevented through regular prophylaxis and physiotherapy. However, when necessary, there are multiple surgical and non‐surgical options available. These procedures are indicated to improve the joint function and quality of life for haemophilic patients worldwide. In this review, the role of surgical and non‐surgical treatment of advanced knee arthropathy and its complications will be described.

Guidelines for the management of acute joint bleeds and chronic synovitis in haemophilia: A United Kingdom Haemophilia Centre Doctors' Organisation (UKHCDO) guideline.

J . HANLEY,* A. MCKERNAN,† M. D. CREAGH,‡ S. CLASSEY,§ P. MCLAUGHLIN,¶ N. GODDARD,¶ P. J . BRIGGS,* S. FROSTICK,** P. GIANGRANDE,†† J . WILDE,‡‡ J . THACHIL§§ and P. CHOWDARY¶ ON BEHALF OF THE MUSCULOSKELETAL WORKING PARTY OF THE UKHCDO *Haemophilia Centre, Royal Victoria Infirmary, Newcastle upon Tyne; †Department of Haematology, Derby Hospitals NHS Foundation Trust, Derby; ‡Haemophilia Centre, Royal Cornwall Hospitals NHS Trust, Truro; §Haemophilia Centre, Guys and St. Thomas’ NHS Foundation Trust, London; ¶Katharine Dormandy Haemophilia and Thrombosis Centre, Royal Free Hospital, London; **Institute of Translational Medicine, University of Liverpool, Liverpool; ††Haemophilia Centre, Churchill Hospital, Oxford; ‡‡Haemophilia Centre, Queen Elizabeth Hospital Birmingham, Birmingham; and §§Haemophilia Centre, Manchester Royal Infirmary, Manchester, UK

The effects of repetitive haemarthrosis on postural balance in children with haemophilia.

Sensory information from visual, vestibular and proprioceptive systems is necessary to control posture and balance. Impairment in proprioception due to repetitive joints bleeding may lead to a deficit in postural balance which, in turn, leads to high joint stress and risk of bleeding recurrence. Despite the increase in attention in this field during the past few years, the data concerning to how bleeds can affect postural control in children with haemophilia (CWH) remain scarce. This study aimed to evaluate the postural balance in CWH. Twenty CWH Haemophilia Group (HG) and 20 age‐matched children Control Group (CG) were recruited to this study. A force plate was used to record centre of pressure (COP) displacement under four different postural conditions during quiet standing: eyes open on firm surface, eyes open on foam surface, eyes closed on firm surface and eyes closed on a foam surface. Variables of COP as sway area and mean velocity and in anterior–posterior (y) medio‐lateral (x) direction were processed and for each variable sensory, quotients were calculated and compared between groups. No differences were found in visual and vestibular quotients variables between groups. A higher value was found in sway area variable on proprioception quotient in the HG when compared with CG (P = 0.042). CWH with repetitive joint bleed on lower limbs showed differences in postural balance when compared with non‐haemophiliac children. The identification of early balance impairments in CWH can help us understand better the effects of bleeds inside joints on postural control and plan a more effective preventive and rehabilitative treatment.

Development of haemophilic arthropathy of the ankle: results of a Delphi consensus survey on potential contributory factors.

The evidence base to support the prevention of haemophilic arthropathy remains incomplete. In particular there is a lack of evidence regarding the potential influence of non‐haematological factors. Additionally the ankle joint, the most affected joint in the primary prophylaxis era, has biochemical and structural features that should offer some protection from degeneration. Therefore, this study aimed to ascertain expert opinions on the potential contributory factors in order to inform a research agenda. The Delphi method, a group forum technique to achieve consensus of expert opinion was selected. It allows anonymous participation of a geographically disparate panel. A modified three‐round design was used with a multi‐professional international panel from 11 countries, 280 suggestions with the potential to influence arthropathy development were submitted in Round 1. These were analysed for theme, giving 47 factors in four categories: musculoskeletal intrinsic, extrinsic affecting physical health, compliance, education and non‐haematological management, and haemophilia related. Subsequently, consensus was ascertained on their importance for study. At survey completion, 31 panellists (86%) completed. 41 factors reached the pre‐selected level for consensus and 6 were rejected. The breadth of the factors put forward suggests that the panel believe pathogenesis of HA is multifactorial. Panel composition indicates results with high face and content validity capable of guiding future research. Developing an understanding of the relative influence of factors in each patient has the potential of not only individualizing replacement therapy with regard to frequency and trough levels but also individualizing other interventions that promote musculoskeletal health.

Joint assessment in haemophilia – current physiotherapist practice in the UK

Abstract Aim UK guidelines recommend regular assessment of joint status in children with haemophilia using a standardised tool performed by haemophilia physiotherapists. We surveyed UK physiotherapists working in haemophilia care regarding their current practice with respect to joint scoring. Methods A survey was posted on SurveyMonkey and all haemophilia physiotherapists practising in the UK were invited to respond. Responses were analysed and discussed at a roundtable meeting attended by invited physiotherapists and specialist haemophilia nurses. Results In all, responses were received from 29 of the estimated 37 physiotherapists in the UK who see haemophilia patients. Both the survey and subsequent discussion reflected agreement that joint scoring offers a valuable tool to clinicians, but that better ways of assessing joint health were needed. There was enthusiasm for combining joint scoring with systematic and validated patient-reported outcome measures. Conclusion Greater understanding is needed of the relationship between joint scores and measures of physical function and quality of life.

Recent advances in musculoskeletal physiotherapy for haemophilia

Physiotherapy is directed towards the movement needs and potential of individuals, providing treatment and rehabilitation to develop, maintain and restore maximum movement and functional ability throughout the lifespan. Recent systematic reviews and randomized controlled trials have extended evidence for the clinical efficacy of physiotherapy interventions and rehabilitation for people with haemophilia. This narrative review synthesizes recent evidence to discuss; differentiating musculoskeletal bleeding and haemophilic arthropathy, efficacy of physiotherapy and rehabilitation for acute musculoskeletal bleeding and arthropathy, as well as monitoring musculoskeletal health. Whilst robust evidence is emerging, there is a need for more well designed randomized clinical studies with larger numbers and homogeneity of participants and collaboration of all researchers and clinicians to identify a core set of outcome measures that can be used to monitor musculoskeletal health.

Recommendations on multidisciplinary management of elective surgery in people with haemophilia

Planning and undertaking elective surgery in people with haemophilia (PWH) is most effective with the involvement of a specialist and experienced multidisciplinary team (MDT) at a haemophilia treatment centre. However, despite extensive best practice guidelines for surgery in PWH, there may exist a gap between guidelines and practical application. For this consensus review, an expert multidisciplinary panel comprising surgeons, haematologists, nurses, physiotherapists and a dental expert was assembled to develop practical approaches to implement the principles of multidisciplinary management of elective surgery for PWH. Careful preoperative planning is paramount for successful elective surgery, including dental examinations, physical assessment and prehabilitation, laboratory testing and the development of haemostasis and pain management plans. A coordinator may be appointed from the MDT to ensure that critical tasks are performed and milestones met to enable surgery to proceed. At all stages, the patient and their parent/caregiver, where appropriate, should be consulted to ensure that their expectations and functional goals are realistic and can be achieved. The planning phase should ensure that surgery proceeds without incident, but the surgical team should be ready to handle unanticipated events. Similarly, the broader MDT must be made aware of events in surgery that may require postoperative plans to be changed. Postoperative rehabilitation should begin soon after surgery, with attention paid to management of haemostasis and pain. Surgery in patients with inhibitors requires even more careful preparation and should only be undertaken by an MDT experienced in this area, at a specialized haemophilia treatment centre with a comprehensive care model.

Investigating the relationship between the HJHS and HAL in routine clinical practice: A retrospective review

Comprehensive musculoskeletal assessment for monitoring joint health in haemophilia includes both physical assessment with Haemophilia Joint Health Score (HJHS) and assessment of self‐reported function by Haemophilia Activities List (HAL).