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Background: Haemophilic arthropathy is one of the main causes of morbidity in people with haemophilia (PWH), inducing pain and reduced functionality. Therefore, PWH are complex patients and must be approached from a multidisciplinary perspective., Objectives: To evaluate the effectiveness of a therapeutic exercise and cognitive-behavioural therapy (CBT) combined protocol on functionality, pain, and joint health of PWH, arthropathy and chronic pain. Treatment satisfaction was also evaluated., Methods: A single-blinded clinical trial with 21 PWH in prophylactic regimen was carried out. Participants were divided into an experimental group (EG, n = 11) and a control group (CG, n = 10). The EG underwent a 4-month programme of home-based therapeutic exercise plus CBT, whilst CG performed their daily activities. Patients were evaluated at baseline, post-intervention and after 12 additional weeks. Measures of functionality (Haemophilia Activities List, Timed Up and Go Test, 2-Minutes-Walking-Test and Sit-to-Stand Test), pain (PainDETECT and Visual Analogue Scale) and joint health (Haemophilia Joint Health Score) were taken. Related dimensions of the A36 Haemophilia Quality of Life Questionnaire were calculated. Effects were calculated using a two-factor ANOVA., Results: The EG showed significant improvements in function (p < .001), pain (p < .001), joint damage (p = .006), and satisfaction with the treatment (p = .006) dimensions of the A36 Haemophilia Quality of Life Questionnaire, as well as in pain measured with the Visual Analogue Scale (p = .008) and PainDETECT (p = .035)., Conclusions: The combined physiotherapy and CBT protocol showed a partial improvement in functionality, pain and joint health of PWH, arthropathy and chronic pain. In addition, participants were satisfied with the treatment., (© 2022 John Wiley & Sons Ltd.)

Introduction: The Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) system and scoring scale has proven to be an accurate and time-efficient imaging method for identifying joint damage in patients with haemophilia., Aim: Observational, multicentre, cross-sectional study conducted in 8 centres in Spain that assessed the joint status of adult patients with severe haemophilia A (SHA) using HEAD-US., Methods: Joint status of the elbow, knee and ankle was evaluated in adults with SHA receiving on-demand (OD) treatment, or primary (PP), secondary (SP), tertiary (TP) or intermittent (IP) prophylaxis., Results: Of the 95 patients enrolled, 87 received prophylaxis (6.3% PP, 38.9% SP, 43.2% TP and 3.2% IP). Mean age was 35.2 years, and 59% of patients had not undergone image testing in the last year. The HEAD-US score was 0 in all joints in 6.3% of patients. The ankle was the most affected joint, regardless of treatment regimen. Patients receiving OD treatment, TP or IP had the overall worst scores, mainly in the ankles and elbows; a similar but milder profile was observed in patients on SP; and patients on PP had the best score in all joints., Conclusion: Joint function may be effectively preserved in patients with SHA on PP, but OD treatment or later initiation of prophylaxis does not seem to prevent progression of arthropathy. Disease worsening was observed in patients OD, TP or IP, most often affecting ankles and elbows. Closer ultrasound imaging monitoring may improve management of these patients., (© 2021 John Wiley & Sons Ltd.)

Introduction: More than half of adult patients with severe haemophilia (PWH) suffer pain daily, with chronic pain (CP) in more than 15% of cases, thereby reducing their quality of life (QoL). However, there are no evidence-based therapeutic guidelines for pain management., Aim: To evaluate the effectiveness of a combined protocol based on psychology and physiotherapy in the improvement of CP self-efficacy in PWH with CP. Secondary outcomes are changes in QoL, emotional status, pain and kinesiophobia., Methods: In this prospective controlled trial study, recruited patients were allocated either to an experimental group (EG, n = 10) or to a control group (CG, n = 9). EG received interventions over four months: one cognitive-behavioural therapy (CBT) session per month and three home exercise sessions per week. Self-efficacy (Chronic Pain Self-Efficacy Scale), QoL (A36 Hemophilia-QoL), emotional status (Hospital Anxiety and Depression Scale and Rosenberg's Self-esteem Scale), pain (Visual Analogue Scale) and kinesiophobia (Tampa Scale for Kinesiophobia) were assessed at three time points (Week 0, Month 4 and Month 7). The intervention effects were determined with mixed 2-factor ANOVAs., Results: The EG showed a significant improvement (p < .05) in the control of symptoms and pain management scores on the Self-Efficacy Scale, QoL, self-esteem emotional status, pain and kinesiophobia. The intervention effects remained significant (p < .05) over time for pain management, QoL, pain and kinesiophobia., Conclusion: The non-pharmacological treatment applied based on CBT and physiotherapy showed to be effective in improving CP self-efficacy, QoL and emotional status, while reducing pain and kinesiophobia in PWH with CP., (© 2021 John Wiley & Sons Ltd.)

Introduction: Eccentric training has been associated with several specific physiological adaptations. The flywheel machine is one of the easiest ways of performing eccentric overload training. However, no studies evaluated its feasibility, safety and muscle activity in patients with haemophilia (PWH)., Aim: To evaluate feasibility and safety and compare muscle activity during flywheel vs weight machine knee extension exercise in severe PWH., Methods: Eleven severe PWH [mean age of 33.5 (8.1) years] participated in this cross-sectional study after receiving prophylactic treatment. Surface electromyography (EMG) signals were recorded for the rectus femoris during the knee extension exercise performed with 2 different conditions (flywheel and weight machine) with matched intensity (6 on the Borg CR10 scale). Kinesiophobia was assessed before and after the experimental session. Participants were asked to rate tolerability of each condition. Adverse effects were evaluated 24 and 48 hours after the session., Results: Kinesophobia did not increase after the experimental session, and no adverse effects were reported. At 60%-70% of the contraction cycle, the flywheel exercise showed higher (P = .024) eccentric rectus femoris muscle activity than the weight machine. In contrast, during the last 90%-100% of the contraction cycle, the traditional weight machine showed higher (P = .004) rectus femoris activity than the flywheel., Conclusion: The knee extension exercise performed with the flywheel at moderate intensity is safe and well tolerated among severe PWH under adequate factor coverage. Importantly, the flywheel variation provides higher eccentric rectus femoris activity at the breaking force moment, while it provides lower eccentric muscle activity at the end of the cycle., (© 2020 John Wiley & Sons Ltd.)

Aim: The objective of this survey was to understand the global trends of imaging assessments in persons with haemophilia, focusing on point-of-care ultrasound (POCUS). Insights into the barriers impeding its widespread proliferation as a frontline imaging modality were obtained., Methods: The survey opened in September of 2017 and closed in May of 2018. Haemophilia Treatment Centres (HTCs) treating both paediatric/adult patients were the population of interest. A REDCap survey of 25 questions was disseminated to 232 clinical staff in 26 countries., Results: The majority of respondents (88.3%, 91/103) reported that POCUS is most useful to confirm or rule out a presumed acute joint bleed. European HTCs reported the highest routine use of POCUS at 59.5% (22/37) followed by HTCs in the "Other" countries of the world at 46.7% (7/15) and North American HTCs at 43.9% (25/57). At the time of the survey, physiotherapists were identified as the clinical staff who perform POCUS 52.8% (28/53) of the time, in contrast with nurses/nurse practitioners who represent only 5.7% (3/53) of users. The greatest perceived barriers to the implementation of POCUS are the lack of trained healthcare professionals who can perform POCUS at 69.2% (74/107) and the overall time commitment required at 68.2% (73/107)., Conclusion: Despite POCUS being used in 49.5% (54/109) of sampled HTCs, it is still utilized almost 30% less globally than full diagnostic ultrasound. A list of barriers has been identified to inform HTCs which challenges they will likely need to overcome should they choose to incorporate this imaging modality into their practice., (© 2020 John Wiley & Sons Ltd.)

Introduction: People with haemophilic arthropathy (PWHA) have impairments in postural control. However, little is known about the effects of demanding conditions, including the unipedal stance and dual tasks, on postural control in PWHA., Aim: Determine the effects of performing dual tasks while in the one-leg stance on postural sway and postural control complexity in PWHA vs. healthy active (HAG) and non-active (HNAG) groups of individuals., Methods: Fifteen PWHA and 34 healthy subjects (18 active and 16 non-active) were recruited. Vertical (V), mediolateral (ML) and anteroposterior (AP) centre of mass signals were acquired using a 3-axis accelerometer placed at the L3/L4 vertebrae of subjects as they performed the one-leg stance under single and dual-task conditions. Sway balance and the complexity of postural control were studied via root mean square (RMS) acceleration and sample entropy, respectively. Increased complexity of postural sway was attributed to increased automatism of postural control., Results: RMS values for PWHA were higher than HAG under both conditions for the V and ML axes, and higher than HNAG under the dual-task condition for the ML axis. Sample entropy was lower in PWHA than healthy individuals under the dual-task condition for V and ML axes, and the single-task condition for the ML axis (P < .05)., Conclusion: PWHA had poorer postural sway and decreased postural control complexity when performing a one-leg stance than healthy people, especially when the dual-task condition was applied. These results may help to design new approaches to assess and improve postural control in PWHA., (© 2020 John Wiley & Sons Ltd.)

Introduction: The joint range of motion (ROM) is an important clinical parameter used to assess the loss of functionality resulting from joint bleedings in people with haemophilia. These episodes require a close follow-up and, to decrease patients' hospital dependence, telemedicine tools are needed. Therefore, this study is aimed to analyse the validity of the Microsoft Kinect V2 sensor with corrected angle measurement to be used in the monitoring of elbow ROM in people with haemophilia., Methods: A convenience sample of 10 healthy controls (CG) and 10 patients with haemophilia with elbow arthropathy (HG) participated in this study. Full ROM of elbow joints was measured in the frontal view with a 10-degree sweep using: (a) a clinical goniometer; (b) the Kinect V2; (c) the Kinect V2 with angle correction; and (d) using a photograph. Bland-Altman graphs (mean and 95% Limits of Agreement [LOA]) and Wilcoxon test were used to determine differences between measurements and groups., Results: The angle-corrected Kinect V2 measurement removed the skew in the original data, reducing the average errors from 7.9° (LoA = -10.3°; 26.0°; CG) and 9.5° (LoA = -7.9°; 26.9°; HG) to -0.1° (LoA = -8.1°; 7.9°; CG) and -0.7° (LoA = -10.7°; 9.3°; HG)., Conclusions: These error levels allow the use of Kinect V2 in the clinical practice. Kinect V2 with angle correction can complement the classical goniometry allowing an efficient and touchless measurement of ROM., (© 2019 John Wiley & Sons Ltd.)

Aim: The use of musculoskeletal ultrasound (MSK-US) following protocols for haemophilic arthropathy and the Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score can help standardize monitoring in haemophilia. This study evaluated the joint status (elbows, knees and ankles) of patients with haemophilia B (HB) in Spain using MSK-US and the HEAD-US score., Methods: Haemophilia B patients ≥14 years old were included in this observational, multicentre, cross-sectional study, regardless of their clinical condition, HB severity and treatment received. Two blinded observers were involved in image acquisition and scoring in each centre., Results: Eighty-two patients from 12 centres were enrolled: 27% mild HB, 23% moderate, 50% severe HB. Mean age was 38.9 ± 16.4 years, 60% were treated on demand (OD) and 40% were on prophylaxis. HEAD-US was zero in all joints in 28.6% OD patients and 36.4% on prophylaxis. Mean scores significantly worsened with HB severity, except for the left knee. Patients on primary and secondary prophylaxis had significantly better joint health vs OD patients in all joints, except the right ankle. Among OD patients, those with severe disease presented significantly worse scores in all HEAD-US items related to permanent damage., Conclusion: Joint status of HB patients in Spain is influenced by severity and treatment modality, related to the development of arthropathy, which appears prevalent in OD patients with severe HB. Routine assessment with an imaging tool such as ultrasound and HEAD-US system may help to improve joint health by personalizing and adjusting treatment in this population., (© 2018 John Wiley & Sons Ltd.)

Introduction: Repeated haemarthrosis is widely accepted as the triggering cause of synovitis and haemophilic arthropathy. A first-line treatment of chronic synovitis is radiosynoviorthesis (RS). The aim of this study was to evaluate the RS effects on the progression of arthropathy and on a reduction in bleeding in patients with haemophilia., Methods: An observational-retrospective study was performed. Bleeding episodes in the 12 months following and in the 12 months preceding RS was compared. The arthropathy was clinically and radiologically analysed by age range, joint and subject, comparing those undergoing RS (Radiosynoviorthesis Group, RSG) against those not undergoing this treatment (Non-Radiosynoviorthesis Group, Non-RSG)., Results: One hundred and seventy-four RS were performed in 71 patients ( 90 Y in Knees and 186 Re in elbows/ankles/shoulder). RS resulted in significant reduction in bleeding (582 preintervention and 168 postintervention, P < .001). In general, the level of arthropathy measured clinically and radiologically was greater with age increase in both groups (RSG and Non-RSG), especially in the 25-40 age range. A significant increase (P < .05) in the progression of arthropathy was also observed, both globally by patient and specifically for each joint, in non-RSG and RSG group., Conclusion: RS is an effective method to reduce the number of haemarthrosis episodes in chronic synovitis. Moreover, RS can positively affect arthropathy by slowing down its progression. However, the results obtained suggest that arthropathy may be conditioned by the subject's age, regardless of whether or not the joint has undergone RS., (© 2017 John Wiley & Sons Ltd.)

Introduction: The sensory strategies of postural control in adult haemophilic arthropathy patients are still poorly understood., Aim: To determine sensorial posture-control strategies through postural sway frequency analysis when in a bipedal quiet stance with and without visual stimulus deprivation in healthy subjects and patients with haemophilic arthropathy. Secondarily, to determine the irregularity of postural balance control through sample entropy (SampEn)., Methods: A triaxial accelerometer attached at the L3 level determined the displacement and acceleration of the centre of mass (DCoM and ACoM, respectively) under open- and closed-eyes conditions. Sensorial strategies were studied by spectral analysis of the DCoM signal, divided into low, medium and high frequencies for visual/vestibular, cerebellum and somatosensory strategies respectively. DCoM irregularity was also analysed by SampEn., Results: Fifteen young, healthy subjects and fifteen young, haemophilia patients were included. The mediolateal DCoM and anteroposterior ACoM differed between groups. During the open-eyes condition, haemophiliacs presented limited high and medium frequencies, and more low frequency bands as compared to non-haemophiliacs (P<.05). In the closed-eyes condition, haemophiliacs had a minor percentage of high frequencies but an elevated percentage of low frequencies as compared to non-haemophiliacs (P<.05). Non-haemophiliacs had higher SampEn than haemophiliacs in the mediolateral axis with open- and closed-eyes (P<.05 and <.001, respectively)., Conclusions: The presented results indicate that patients with haemophilic arthropathy, as compared to healthy subjects, have less postural control irregularity and poor somatosensory system contributions that are compensated by more vestibular inputs., (© 2017 John Wiley & Sons Ltd.)

Introduction: Alterations in the musculoskeletal system, especially in the lower limbs, limit physical activity and affect balance and walking. Postural impairments in haemophilic preteens could increase the risk of bleeding events and deteriorate the physical condition, promoting the progression of haemophilic arthropathy., Aim: This study aims to evaluate static postural balance in haemophilic children, assessed by means of the Wii Balance Board ® (WBB)., Methods: Nineteen children with haemophilia and 19 without haemophilia aged 9-10 years, have participated in this study. Postural balance was assessed by performing four tests, each one lasting 15 s: bipodal eyes open (BEO), bipodal eyes closed (BEC), monopodal dominant leg (MD) and monopodal non-dominant leg (MND). Two balance indices, standard deviation of amplitude (SDA) and standard deviation of velocity (SDV) were calculated in the anterior-posterior (AP) and medial-lateral (ML) directions., Results: Index values were higher in haemophilic group and the differences were statistically significant (P < 0.05) in only six (SDAAP in BEO, BEC and MD conditions, SDAML in BEO, SDVAP in BEO and SDVML in MND condition) of 16 parameters analysed., Conclusion: Tests performed indicate a poorer static postural balance in the haemophilic cohort compared to the control group. Accordingly, physiotherapy programmes, physical activity and sports should be designed to improve the postural balance with the aim of preventing joint deterioration and improving quality of life., (© 2016 John Wiley & Sons Ltd.)

The HERO (Haemophilia Experiences, Results and Opportunities) quantitative surveys collected information on characteristics and perceptions of adult persons with haemophilia (PWH) and parents of children with haemophilia. The aim of this article is to describe the perceptions of PWH and parents on psychosocial aspects related to treatment. Two online surveys (one for PWH, one for parents) were conducted in 10 countries. Among 675 PWH respondents, 77% reported having responsibility for their own care; 72% of 561 parent respondents had the main responsibility for their son. PWH were most commonly treated on demand (45% of 648 adults using factor concentrate), with 32% on regular prophylaxis and 23% treated on demand with short-term prophylaxis (e.g. for sports/physiotherapy). Children were most often treated with prophylaxis (65% of 549 children using factor concentrate), with 26% treated on demand and 8% treated on demand with short-term prophylaxis. Factor was generally used as instructed at home. Some respondents (41% PWH; 30% parents) had difficulties/concerns with factor availability/affordability. PWH reported more bleeds in the last 12 months than parents reporting their son's bleeds (mean 17.8 vs. 8.7). Both PWH and parents generally perceived that overall, their (their son's) haemophilia was well controlled. Results differed by country. The HERO study captured new, patient-based data regarding many facets of life relevant to PWH, including treatment. The information conveyed in this article largely represents new insights regarding perceptions of treatment and provides initial benchmark statistics for further research., (© 2014 John Wiley & Sons Ltd.)

Background: Retrospective publications show a decrease in the bleeding frequency and an improvement in the quality of life (QoL) in severe adult haemophilia A (SAHA) after switching from the on-demand treatment (DT) to secondary prophylaxis (SP). But there are no prospective studies which demonstrate, using a haemophilia-specific questionnaire, an improvement in the QoL after such treatment change. The main objective of this study is to prospectively compare the QoL and the musculoskeletal assessment after switching from DT to SP in SAHA using the A36 Hemofilia-QoL(®) . As secondary objective, we compare the haemarthrosis frequency and factor VIII consumption in DT and SP during a similar period of time (12 months) after switching., Materials and Methods: We have designed a prospective study including SAHA who have been under DT and were changed to a protocol, which combines SP (biweekly administration of factor VIII) with individualized physiotherapy programme., Results: Twelve months after switching to SP, the QoL was significantly improved (P = 0·005). Musculoskeletal assessment of pathologic irreversible joints and joints with a reversible alteration was generally improved, although in only a few joints, this improvement was statistically significant. Haemarthrosis was strongly reduced (12·60-1·42, P < 0·001)., Conclusions: This prospective study has demonstrated a statistically significant improvement in the QoL after 1 year from switching patients from DT to SP. The musculoskeletal assessment after 1 year was maintained similar or slightly improved. When we compared retrospective DT and prospective SP, haemarthrosis where strongly reduced requiring a slight increase in the consumption of factor VIII concentrates., (© 2013 International Society of Blood Transfusion.)

Recurrent haemarthrosis is the final cause of haemophilic arthrosic disease in haemophilia patients. Therefore, it is essential to diagnose it early, both clinically and by imaging. In addition, haemophilia patients experience chronic synovitis, joint degeneration, muscle haematoma and pseudotumours. The objective of this article is to highlight the value of ultrasounds in the diagnosis and control of the evolution of musculo-skeletal problems in haemophilia patients. To this end, we have performed a literature search in the PubMed, Web of Science(®) (WOS) and SciVerse bases, using the following keywords: hemophilia or haemophilia and ultrasonography (US), ultrasound, echography and sonography. The search was limited to studies published in English between the years 1991 and 2011, finding a total of 221 references. After reviewing the title or abstract for evidence of the use of US for the diagnosis of musculo-skeletal lesions in haemophilia, we selected 24 of these references. We added data collected from our experience to the most important data found in the references. Our main conclusion is that US is highly valuable for the diagnosis of musculo-skeletal diseases in haemophilia. It is a fast, effective, safe, available, comparative, real-time technique that can help us confirm the clinical examination. It is particularly important in acute haemarthrosis, as it can be used to objectively identify the presence of blood in the joints, measure its size, pinpoint its location, assess its evolution and confirm its complete disappearance., (© 2011 Blackwell Publishing Ltd.)

Psychosocial factors have a significant impact on quality of life for patients with chronic diseases such as haemophilia. Interventions to support the psychosocial needs of patients and their families, such as offering information and assistance, clarifying doubts, and teaching coping strategies to minimize the impact of disabilities, may help to maximize patient outcomes and improve quality of life for their families. The aim of this study was to evaluate the current literature on psychosocial aspects of haemophilia. Literature searches were performed using the PubMed database to identify studies evaluating psychosocial stressors in persons with haemophilia. Articles pertaining to the HIV epidemic were excluded from the analysis, as were those published before 1997. The literature reviews identified 24 studies, covering a range of different populations, generally with small cohorts (n < 100). Most studies were questionnaire based, with almost no overlap in terms of the instruments used. Only one study combined questionnaire techniques with qualitative methods. Except for two European studies, all publications reported data from a single country. Overall, studies tended to show that quality of life is reduced in persons with haemophilia, with a potential impact on education and employment, particularly when prophylactic treatment is not available. Carrier status in women may have a psychosocial impact and affect reproductive choices. Data on psychosocial aspects of the haemophilia life cycle are lacking in the published literature, along with data from developing countries. There is a need for more international, multifaceted research to explore and quantify the social and psychological aspects of life with haemophilia., (© 2011 Blackwell Publishing Ltd.)

Haemarthroses (intra-articular haemorrhages) are a frequent finding typically observed in patients with haemophilia. Diagnosis and treatment of these bleeding episodes must be delivered as early as possible. Additionally, treatment should ideally be administered intensively (enhanced on-demand treatment) until the resolution of symptoms. Joint aspiration plays an important role in acute and profuse haemarthroses as the presence of blood in the joint leads to chondrocyte apoptosis and chronic synovitis, which will eventually result in joint degeneration (haemophilic arthropathy). Ultrasonography (US) is an appropriate diagnostic technique to assess the evolution of acute haemarthrosis in haemophilia, although magnetic resonance imaging remains the gold standard as far as imaging techniques are concerned. Some patients experience subclinical haemarthroses, which eventually tend to result in some degree of arthropathy, especially in the ankles. Nowadays, the most effective way of protecting these patients is primary prophylaxis, which in practice changes severe haemophilia into moderate haemophilia, preventing or at least minimizing the occurrence of haemarthrosis. If primary prophylaxis is, for whatever reason not an option, secondary prophylaxis and enhanced on demand treatment should be considered. Two alternatives are available for inhibitor patients: (i) control of haemostasis using by-passing agents (rFVIIa or aPCCs) either as enhanced on demand treatment or secondary prophylaxis, as appropriate, following the same basic principles used for non-inhibitor patients and (ii) immune tolerance induction (ITI) to eradicate the inhibitor., (© 2011 Blackwell Publishing Ltd.)

In recent studies, adolescent haemophilia A patients and healthy adolescents have been encouraged to participate in physical activity (PA) based on its many established health benefits. However, none of the studies to date has used objective measures of PA and sedentary behaviour. The aims of the current study included: (i) to determine the amount and intensity of habitual PA among haemophilia A and healthy adolescents, and in haemophilia A patients with and without bleeding episodes in the previous year, and (ii) to identify the type and determine the time spent in sedentary activities in which both groups participate to obtain a broadened view of their daily activities. A total of 41 adolescent haemophiliacs and 25 healthy adolescents, between the ages of 8 and 18 years, participated in this cross-sectional study. A triaxial accelerometer was used to measure PA and the Adolescent Sedentary Activity Questionnaire to assess sedentary behaviours among members of both groups. Adolescent haemophilia A patients showed a higher daily mean time engaged in light, moderate and moderate-to-vigorous PAs relative to their healthy counterparts (P < 0.001). Patients who had experienced bleeding episodes during the previous year also spent more time participating in vigorous PAs than healthy adolescents (P = 0.002). With regard to sedentary behaviours, healthy adolescents spent more time listening to music than haemophilia A adolescents (P = 0.003), whereas haemophilia A adolescents spent more time watching TV (P < 0.001) and playing videogames (P = 0.003) than healthy counterparts. Findings suggest that increased participation in moderate intensity PAs and reduced sedentary behaviours should be recommended among adolescents with haemophilia A., (© 2011 Blackwell Publishing Ltd.)

Thirteen patients with haemophilia A took part in this study voluntarily. They underwent an aquatic training programme over a 9-week period (27 sessions; three sessions per week; 1 h per session). Their motor performance was assessed by the following cardio-respiratory and mechanical variables before and after the training programme: oxygen uptake (VO(2), mL min(-1)), relative oxygen uptake (rel VO(2), mL min(-1).kg(-1)), carbon dioxide (CO(2), mL min(-1)), respiratory quotient (R), heart rate (bpm) and the distance covered in 12 min (the Cooper test, m). Nine patients successfully completed the intervention and measurement protocols without bleeding or other adverse events. After the proposed training programme, significant differences between the pre-test and post-test were observed. Patients' aerobic capacity increased considerably, and their oxygen uptake improved by 51.51% (P < 0.05), while their relative oxygen uptake went up by 37.73% (P < 0.05). Their mechanical capacity also increased considerably (14.68%, P < 0.01). Our results suggest that 27 specially designed aquatic training sessions for our patients with haemophilia A had a positive effect on their motor performance and considerably improved their aerobic and mechanical capacity without causing adverse effects.

In haemophiliacs, the physical condition, muscular strength, aerobic resistance, anaerobic resistance and proprioception have all diminished. Muscle atrophy and instability, being more vulnerable to stressful motor demands, increase the risk of lesion and establish a vicious circle that is hard to break: pain, immobility, atrophy, articular instability and repeated bleeding episodes. In haemophilia, physical and/or sporting activities were not recommended until the seventies. Nowadays, the overall policy is to recommend certain physical activities, especially swimming, to improve the patient's quality of life, thanks to prophylaxis programmes. The objective of this study is to perform a systematic review of the exercise and sporting activities recommended for haemophiliacs. Experimental and observational studies and clinical assays about rehabilitation for haemophiliacs with exercise and sporting activities have been included. The relevant studies were identified in Medline, Cinahl, Embase and SportDiscus, and key words were: haemophilia, exercise and sport (with no language restrictions). Works were independently analysed by reviewers and the following were identified: of 3603 studies, 103 were included in this review: 29 (28.15%) were experimental, 27 (26.21%) were observational and 47 (45.63%) were clinical. Physiotherapy, physical activity and sport are basic elements to improve quality of life and the physical condition, increase strength and resistance and to reduce the risk of musculoskeletal lesions and to prevent haemophilic atrophy. In general, professionals in haemophilia believe that regular exercise and rehabilitation with physiotherapy is fundamental, particularly in countries where replacement therapy is not readily available.

The intention of the 'clinical and echographical protocol of evaluation the efficacy of recombinant activated factor VII in the haemarthrosis' (EFFISEVEN protocol) was to provide an extensive study of the evolution of haemarthrosis, and second, of its repercussions on the degenerative process of joints. The clinical evaluation of haemarthroses and their evolution is based on a well-established methodology, although very few studies have sought to determine the correlation between pain, mobility and the objective data regarding the haemorrhage. We believe that it is necessary to unify criteria and that the EFFISEVEN protocol may contribute data that improve standards which, in turn, will influence the degenerative process of joints, and consequently affect the quality of life of haemophilia patients with inhibitors. Echographical control of haemarthrosis is an objective method that allows control over how the haemorrhage evolves and also helps in the identification of rebleeding. Therefore, its use adds a new dimension to patient management strategies. Techniques used to monitor recombinant activated factor VII (rFVIIa) treatment require further study, although preliminary results guarantee their efficacy.

We recommend prophylaxis in haemophilic children with an inhibitor as a way of preventing the musculoskeletal impairment that is likely to affect them. This approach has been used for children without inhibitors with excellent results. If prophylaxis is not feasible, we suggest that intensive on-demand treatment should be given. Two agents, recombinant activated FVII (rFVIIa) and activated prothrombin complex concentrates (aPCC), are currently used to control haemostasis either for prophylaxis or intensive on-demand treatment. As it is recombinant, rFVIIa would seem more appropriate to be employed in children. aPCC could be used in adults, or in the event of an unsatisfactory response to rFVIIa. We recommend prophylaxis or, at least, intensive on-demand treatment in haemophilia children with inhibitors. Both rFVIIa and aPCC are being used for this purpose. It would seem that rFVIIa might be more appropriate for children as it is a recombinant product. Nevertheless, after skeletal maturity (in adults), both agents could be used indistinctively (taking into consideration that FEIBA is a plasma-derived product). We still need more well-designed comparative studies in order to be able to assert that our consensus-based conclusion is evidence based. In orthopaedic surgery, both aPCC and rFVIIa have been reported to be effective in controlling perioperative haemostasis, although in practice most centres have so far used rFVIIa for their orthopaedic procedures. We recommend rehabilitation programmes for all patients with inhibitors in order to mitigate the disabling and handicapping impact of their condition and thereby enable them to achieve social integration. Programmes for haemophilic children without inhibitors can be applied to children with inhibitors but should be individually tailored.

Musculoskeletal disorders in haemophiliacs represent the highest percentage of lesions, giving rise to haemophilic arthropathy (HA) which predominantly affects lower limbs, influencing postural control, standing and walking. Leading a sedentary lifestyle seems to influence strength and muscular resistance in haemophiliacs which, in turn, are related to articular stability and the prevention of articular degenerative processes. The objective of this work was to study alterations in balance to subsequently evaluate the appropriate therapeutics and how this influences the development of arthropathy. Twenty-five haemophiliacs with HA, 25 haemophiliacs without HA (NHA) and 25 healthy control subjects (CTL) took part in this study. Tests were performed on a force platform and the subjects remained as still as possible for 30 s under different conditions: (i) bilateral stance with eyes open; (ii) bilateral stance with eyes closed; (iii) right unilateral stance; and (iv) left unilateral stance. The results of these tests indicated significant differences (P < 0.05) between the groups HA, NHA and CTL. The HA group presented worse results for both unilateral and bilateral stance when compared with the other two cohorts. Surprisingly, the NHA group displayed a worse balance than the controls. A single calculated parameter (mean frequency) did not show significant differences. This apparently indicates the absence of pathology in the nervous system in relation to postural control. The results suggest that our patients should participate in physical exercise programmes, rehabilitation and physiotherapy to improve their postural control.

In the general population, the degenerative processes in joints are directly related to adult age, and osteoarthrosis represents the most frequent musculoskeletal alteration. In the haemophilic patient, the degenerative processes in the joint begin at very early ages, and are directly related to musculoskeletal bleeding episodes, which are occasionally subclinical and constitute haemophilic arthropathy. In the haemophilic patient, arthropathy constitutes the most frequent, severe and disabling pathology, and its assessment includes muscular force-related parameters. We have studied the value of Maximum Isometric Voluntary Contraction in the quadriceps femoris of 46 subjects, 28 haemophiliacs (16 severe, eight moderate and four mild) and 18 healthy individuals with a view to establishing appropriate values of force and to restoring physical therapy recommendations. The maximum force values were significantly greater (P < 0.001) in the healthy individuals group. The mild haemophiliacs group also presented significant differences of force (P < 0.05) in relation to the severe and moderate haemophilic patient groups. The mild and severe haemophilia patients presented greater fluctuations of force (P < 0.001) than the control group, the haemophilia group have a minor skill to produce constant force. The seriousness of the arthropathy in the knee is directly related to diminished values of maximum force. Our work evidences that patients with severe haemophilia present a greater degree of arthropathy in relation to moderate and mild haemophilia patients. Haemophilic arthropathy is associated with muscular atrophy and strength deficit. In haemophilic patients, the deficit of maximum force and the presence of fluctuations may suggest an increased risk of bleeding during physical activities and the need to programme specific physical therapy guidelines which increase muscular power through resistance training.

Eighteen sessions of surface electrical stimulation was applied to the quadriceps femoris of the left leg of ten male subjects affected by severe haemophilia A, while ten healthy subjects constituted the control group. The isometric strength, the electromyographic activity and the diameter of the rectus femoris were measured in both legs before and after a six-week treatment period. After the treatment, the people affected by haemophilia showed a gain in strength by 13.8% in the stimulated leg and by 17.1% in the non-stimulated one. No changes were detected in the electromyographic activity. On the contrary, the diameter of the rectus femoris of the stimulated leg increased in 24.34%, while no significant change was found in the nonelectrically stimulated leg. These results show for the first time that the application of electrical stimulation in haemophilic patients contributes to the gain and development of strength and trophism. The results also show that the surface electrical stimulation does not represent a threat to the patients' health, and that can be used for therapeutic purposes.

We report on a series of 108 elective orthopaedic surgical procedures. It includes 88 radiosynoviortheses and 20 major orthopaedic procedures, performed on 51 patients at nine centres worldwide. The average age of patients was 28.5 years (range 5-40 years), and the average follow-up time was 2 years (range 1-5 years). There were 82 good results, 15 fair and 11 poor. In the synoviorthesis group (41 patients, 88 synoviortheses) the average age was 14.3 years (range 5-40 years) and the average follow-up was 6.5 years (range 1-10 years). There were 66 good results, 14 fair and eight poor. There were no complications. In the group of major orthopaedic procedures, the average age of the 10 patients was 32.5 years (range 27-40 years), and the average follow-up was 2.3 years (range 1-5 years). There were 16 good results, one fair and three poor. Postoperative bleeding complications occurred in three of the 20 major orthopaedic procedures performed (15% complications rate). They occurred in three patients treated with insufficient doses of recombinant activated factor VII. Despite such complications, the study has shown that haemophilic patients with inhibitors requiring elective orthopaedic surgery (EOS) can undergo such procedures with a high expectation of success. In other words, EOS is now possible in haemophilic patients with inhibitors, leading to an improved quality of life for these patients. Thorough analysis of each case as part of a multidisciplinary team will allow us to perform elective orthopaedic procedures in patients with inhibitors.

In haemophilia patients, orthoses are used for the prevention and management of bleeds and their effects on the musculoskeletal system. The characteristics of these devices vary according to the joint to which they are applied, although two basic types are distinguished: static and functional. The upper limbs make up a functional unit that is adapted to prehension, or the action of grasping or seizing objects. The most affected joints of this unit in haemophilia are the elbow and shoulder, which require immobilization, followed by stabilization and protection and in the case of disability, assistance in the performance of function. The lower limbs, on the other hand, are adapted to the action of ambulation. The knee, ankle and hip joints frequently sustain damage in haemophilia, and in the acute phase they should be immobilized and the patient discouraged from walking. Once bleeding has ceased, and motion and muscle balance improved, a gradual return to normal activity may commence. The principle aim of orthotics in these cases is to immobilize and unburden the affected body segment, and to provide stability and assistance for ambulation. Shoe insoles cushion and modify stance, and therefore may help prevent lesions. Crutches and walking frames are used for restoring normal gait. Orthotic devices improve the quality of life of haemophilia patients with musculoskeletal lesions and are useful for preventing lesions resulting from strenuous activities, whether performed in the course of daily living or in the pursuit of games and sports.

This paper outlines the results obtained in a cross-sectional study of a group of young patients with severe haemophilia A and B. The primary aim of the study was to ascertain the level of orthopaedic complications in the group, the effects that these complications have on quality of life, and the medical resources used on these patients. The secondary aim was to relate their current orthopaedic state to the type of treatment received before the study. The study was carried out in 11 hospitals in Spain, where 70 severe haemophilia patients (factor VIII [FVIII] < 2%), with an average age of 21.6 and a median age of 22, and no inhibitors, were monitored. The percentage of patients suffering from articular complaints was 84.3% and 85.7% according to the Gilbert and Petterson scales, respectively. Furthermore, pain was reported in 16.1% of joints, most frequently in ankles. Using the SF-36 Health Survey, patients were observed to have a poorer quality of life relative to healthy controls. Despite high levels of both the coagulant factor given to patients and the financial resources dedicated to their treatment, the type of treatment (on demand and/or as secondary prophylaxis) provided to the young adults was found to be incapable of preventing haemophilic arthropathy and subsequent negative quality of life consequences.

The efficacy of radiosynoviorthesis in the management of chronic haemophilic synovitis has been proven. Like replacement therapy, however, this procedure has no effect on muscle strength or endurance, range of movement, coordination, or the patient's physical condition in general. All the factors just enumerated are essential for the recovery and maintenance of the haemophiliac's quality of life. That is why rehabilitation and physiotherapy are so important, since no medical therapy or surgical procedure are by themselves capable of preventing disabilities.

This paper provides an outline of the results obtained in a cross-sectional study conducted primarily with the aim of ascertaining orthopaedic complications in a group of young severe A and B haemophiliacs, the effects which these complications have on the medical resources used with these patients, and the impact of severe haemophilia on their quality of life. Its secondary aim was to link their current orthopaedic status to the type of treatment they had received prior to the study. Eleven Spanish hospitals took part in this study, monitoring 70 severe haemophiliacs (FVIII:C <2%) without inhibitors who had a mean age of 21.6 years and a median age of 22. Retrospective data collected from birth to the conclusion of the study were used and, for certain variables, data from the last 12 months. The type of treatment given had been on-demand treatment, together with prophylaxis of variable time periods, which in 32 cases (45.7%) were prolonged (>6 months). In 40 cases (57.1%) the patients underwent one or more periods of prophylaxis. Thirty-three patients (47.8%) had over 1000 days of administration of factors VIII and IX. The analysis of the total study group reveal an average of 348 bleeding episodes per patient. The findings of this study revealed that 84.3% of these patients suffer from articular complaints on the Gilbert scale, and 85.7% on the Pettersson scale. In addition, pain was reported in 16.1% of the joints, the most frequently affected being the ankle joints. Twenty-six patients (37%) had undergone orthopaedic surgery from the time of birth to the conclusion of the study. The quality of life of the severe haemophiliacs reviewed seems to have been affected. During the last 12 months, there were 216 outpatient haematological visits and 176 orthopaedic-rehabilitation visits, as well as 12 radiological explorations and two hospitalizations. During these 12 months, medical expenditure totalled $55 473 per patient per year, the most important item being factor concentrates VIII/IX ($54 119 per patient per year). The type of treatment given to these patients (on-demand and/or as secondary prophylaxis) was found to be incapable of preventing haemophilic arthropathy or guaranteeing an acceptable quality of life, although both the administration of coagulant factor concentrate to such patients and the financial resources dedicated to their treatment was very high. Consequently, a strategic change is to be considered for the prevention of haemophilic arthropathy, based on the introduction of replacement treatment involving continuous administration of factors VIII and IX in primary prophylaxis regimens from the first years of life.

Thirty-six haemophilia A, HIV-negative, previously treated patients were changed therapy to a highpurity and double-inactivated (solvent/detergent and dry-heating) previously unused factor VIII concentrate. The mean age of these patients was 27 years at the time of the change. Twenty-three patients were severe haemophiliacs (FVIII:C < 0.02 IU mL-1), seven moderate (FVIII:C between 0.02 and 0.05 IU mL-1) and six mild (FVIII:C > 0.05 IU mL-1). The mean follow-up with this single product was 16 months, with 82 accumulated exposure days and the mean consumption was 117,300 IU of FVIII corresponding to a mean of six batches per patient. No patient developed FVIII inhibitors (upper limit of the CI95: 7.98%), resulting in an incidence rate of 0/48 patient-years (upper limit of the CI95: 77/1000 patient-years). The change in therapy to this new factor VIII concentrate was not associated with the appearance of inhibitors.