Muscle function deterioration in patients with haemophilia: Prospective experience from Costa Rica.

INTRODUCTION: In haemophilia, recurrent joint bleeds are responsible for the development of chronic joint damage, because blood induces biochemical changes in joint structures. Joint degeneration is a long process, and structural damage is often preceded by joint dysfunction, which is represented by quantitative and qualitative changes in the contraction pattern of muscles around the joints. Muscle function in patients with haemophilia is still poorly investigated. AIM: The aim of this 2-year prospective study was to assess the changes in muscle function of lower limbs in a group of patients affected with haemophilia in San José, Costa Rica. METHODS: Muscle function of lower limbs was assessed by means of surface electromyography (sEMG) accomplished at study enrolment and after 2 years of follow-up. Gluteus medius, vastus medialis, biceps femoris, gastrocnemius and tibialis anterior were examined. All patients underwent concurrent clinical examination using Haemophilia Joint Health Score (HJHS). RESULTS: Sixty patients aged 2-43 years with severe haemophilia underwent clinical and sEMG evaluation. Thirty-two patients (53%) had target joints. sEMG parameters were altered in all patients and were not correlated to the presence of target joints and/or an abnormal HJHS. Muscle function deterioration was observed after 2 years of follow-up despite an unmodified HJHS. CONCLUSIONS: Muscle function of lower limbs as detected by means of sEMG was impaired in patients with haemophilia irrespective of the presence of overt joint damage. sEMG is a simple and sensitive assessment tool able to detect muscle dysfunction and so favouring the implementation of early rehabilitation therapy.

How fit are children and adolescents with haemophilia in Germany? Results of a prospective study assessing the sport-specific motor performance by means of modern test procedures of sports science.

There are a lot of publications on the physical fitness of patients with haemophilia (PWH), however, most studies only reflect individual sport-specific motor capacities or focus on a single fitness ability. They involve small patient populations. In this respect principal objective of this study was to compare the physical fitness in all respects and the body composition of young PWH to healthy peers based on the most valid data we could get. Twenty-one German haemophilia treatment centres were visited from 2002 to 2009. PWH between 8 and 25 years were included. They performed a five-stage fitness test covering the sport-specific motor capacities for coordination, measured by one leg stand, strength, aerobic fitness and mobility as well as body composition. The patients' results were compared with age- and gender-specific reference values of healthy subjects. Two hundred and eighty-five PWH (mean age 13.2 ± 4.5 years, 164 PWH with severe disease) were included prospectively in the study. PWH are significantly below the reference values of healthy subjects in the one-leg stand test, the mobility of the lower extremity, the strength ratio of chest and back muscles and the endurance test. In body composition, the back strength and the mobility of the upper extremity PWH are significantly above the reference values. There are no significant differences in abdominal strength. In conclusion we found specific differences in different fitness abilities between PWH and healthy subjects. Knowing this, we are able to work out exercise programmes to compensate the diminished fitness abilities for our PWH.

Impact of joint status on contraction steadiness of m. quadriceps femoris in people with severe haemophilia.

Impaired contraction steadiness of lower limb muscles affects functional performance and may increase injury risk. We hypothesize that haemophilic arthropathy of the knee and the strength status of quadriceps are relevant factors which compromise a steady contraction. This study addresses the questions if impaired steadiness of the quadriceps is verifiable in people with haemophilia (PWH) and whether a connection between the status of the knee joint and quadriceps strength exists. A total of 157 PWH and 85 controls (C) performed a strength test with a knee extensor device to evaluate their bilateral and unilateral maximal quadriceps strength and steadiness. Isometric steadiness was measured by the coefficient of variation of maximum peak torque (CV-MVIC in %). For classification of the knee joint status the World Federation of Haemophilia (WFH) score was used. Lower steadiness (higher CV values) was found in PWH compared with C during bilateral [PWH vs. C; 0.63 (0.36/1.13) vs. 0.35 (0.15/0.72), median (Q25/Q75) P < 0.001] and unilateral trials [left leg: 0.70 (0.32/1.64) vs. 0.50 (0.23/1.04), P < 0.05; right leg: 0.68 (0.29/1.51) vs. 0.39 (0.18/0.68), P < 0.001]. PWH with a WFH score difference (≥1) between their extremities showed a less steady contraction in the more affected extremity (P < 0.05). More unsteady contractions have also been found in extremities with lower quadriceps strength compared with the contralateral stronger extremities (P < 0.001), whereby the weaker extremities were associated with a worse joint status (P < 0.001). The results of this study verify an impaired ability to realize a steady contraction of quadriceps in PWH and the influence of joint damage and strength on its manifestation.

Integrated postural analysis in children with haemophilia.

The maintenance of a correct posture in haemophilic boys might contribute to prevent joint bleeds, chronic pain and dysfunction. This single-centre study was aimed at evaluating whether or not postural alterations are more common in haemophilic than in non-haemophilic boys and whether they are related to the orthopaedic status. Posture and balance were investigated in boys with severe/moderate haemophilia (cases) and in age-matched non-haemophilic peers (controls). Thirty-five cases (89% with haemophilia A: 74% with severe disease) were included in the study and compared with 57 controls. Posture was evaluated on digital pictures of anterior, lateral and posterior views of the habitual standing position. Balance was examined with a portable force platform with eyes open and closed. The trajectory of the total body centre of force (CoF) displacement over the platform was computed by multiple planes obtaining different measures: sway area, velocity, acceleration and body loads. The joint status of cases was assessed with the Haemophilia Joint Health Score. Cases were more disharmonic than controls (52% vs. 26% in controls; P = 0.04), swayed significantly less and more slowly than controls (P < 0.05 for several parameters of CoF displacement) revealing stiffness of the musculoskeletal system. However, they were able to maintain their stance within a similar sway area. Haemophilic boys have more postural disharmonies than non-haemophilic peers, hence a global evaluation of the orthopaedic status should include also balance and posture examination to identify early dysfunction and establish a tailored physical or rehabilitation programme.

The benefits of exercise for patients with haemophilia and recommendations for safe and effective physical activity.

Most health care professionals involved in the management of people with haemophilia (PWH) believe that exercise is beneficial and its practice is widely encouraged. This article aims to demonstrate that appropriate exercise (adapted to the special needs of the individual PWH) may be beneficial for all PWH through improved physical, psychosocial and medical status. Based on evidence gathered from the literature, many PWH, particularly those using long-term prophylaxis or exhibiting a mild/moderate bleeding phenotype, are as active as their healthy peers. PWH experience the same benefits of exercise as the general population, being physically healthier than if sedentary and enjoying a higher quality of life (QoL) through social inclusion and higher self-esteem. PWH can also gain physically from increased muscle strength, joint health, balance and flexibility achieved through physiotherapy, physical activity, exercise and sport. Conversely, very little data exist on activity levels of PWH in countries with limited resources. However, regarding specific exercise recommendations in PWH, there is a lack of randomized clinical trials, and consequently formal, evidence-based guidelines have not been produced. Based on published evidence from this review of the literature, together with the clinical experience of the authors, a series of recommendations for the safe participation of PWH in regular physical activities, exercises and sport are now proposed. In summary, we believe that appropriately modified programmes can potentially allow all PWH to experience the physical and psychosocial benefits of being physically active which may ultimately lead to an improved QoL.

Quadriceps strength, inter-extremity difference (IED) and joint status in adult persons with severe haemophilia in different age stages.

Quadriceps weakness seems to be a hallmark in adult persons with severe haemophilia (PWH). The purpose of this study was to compare PWH and non-haemophilic controls in different age stages with reference to joint status and quadriceps strength. Further aims were to examine the extent of strength-specific inter-extremity-difference (IED) and the prevalence of abnormal IED (AIED). A total of 106 adults with severe haemophilia (H) and 80 controls (C) had undergone an orthopaedic examination for classification of knee and ankle status using the WFH score. Quadriceps strength was evaluated unilaterally as well as bilaterally with a knee extensor device. Each group was divided into four age-related subgroups (HA/CA: 18-29, HB/CB: 30-39, HC/CC: 40-49, HD/CD: 50-70; in years). H presented a worse knee and ankle status than C indicated by higher WFH scores (P < 0.01). Regarding the age-matched subgroups only HB showed higher knee scores than CB (P < 0.05). The ankles were clinically more affected in HB-HD compared with those in age-matched controls (P < 0.05). H showed lower quadriceps strength than C (P < 0.05). In addition, all subgroups of H presented lower strength (HA: 10-17, HB: 19-23, HC: 35-36, HD: 53-61; in%, P < 0.05). IED was higher in H than in C [H: 12.0 (5.3/32.2) vs. C: 7.1 (2.9/10.9); Median (quartiles) in%, P < 0.001] and increased with age in H. We discovered an AIED in 35% of H. These findings highlight the importance for the early implementation of preventive and rehabilitative muscle training programmes in the comprehensive treatment of PWH.

Physiotherapy home exercise program for haemophiliacs.

BACKGROUND: Regular physiotherapy can improve the stability and flexibility of joints and decrease the bleeding risk in patients with haemophilia. To reduce the appointments for the patients and to make exercising a part of daily live, an individualized home exercise program (HEP) was designed. Retrospectively the number of bleedings during the HEP was compared to number of bleedings before. METHOD: 8 patients aged between 4 and 16 years with haemophilia A were evaluated. At start and after 13 month patients had a motion analysis via topographic ultrasound. According to the results and clinical findings an individualized HEP was created. Standardised scores for clinical evaluation and the patient based evaluation of exercises were designed. At every appointment exercises were individually adjusted. RESULTS: Patients exercised in median 1.7 times a week. No training related bleeds occurred. 7 of 8 patients showed reduced joint and/or muscle bleeds (p<0.02). Clinical scores raised slightly in every patient. However the second motion analysis of squat and gait showed a worsening in 7 of 8 patients (p>0.05). CONCLUSION: A HEP can help to advance in physical fitness and coordination and may reduce bleeding tendency, but needs to be accomplished regularly. Patients are interested but the motivation to exercise at home is low. Disorders measured by motion analysis seem not to be sufficiently influenced by our surrogate training program.

[Analysis of muscle function with kinetic superficial EMG in children with haemophilia - recognizing subclinical changes, establishing individual therapy, quality control]. / Muskelfunktionsmessung mit kinetischem Oberflächen-EMG bei Kindern mit Hämophilie. Erkennung subklinischer Veränderungen, Etablierung individueller Therapie, Qualitätskontrolle.

UNLABELLED: Electromyography (EMG) measures muscle electricity. It depends on muscle contraction and central motor control. Muscles react very sensitive on external signals (e. g. bleeding), The resulting changes can be shown in EMG. PATIENTS, METHODS: A first study included 51 children and young adults from Costa Rica. They underwent a clinical examination and EMG of the hip, knee and ankle joints. Resting muscle tone, maximal isometric contraction and three typical isotonic movements of the joints were measured. First step of analysis was to characterize typical pathogenic changes in the muscles and to find a corresponding physical therapy to minimize these changes. RESULTS: It showed that EMG is a good marker for muscle condition. It helps to individualize therapy and improve effectivity of physical and physiotherapeutic treatment of the locomotive system of children and young adults with hemophilia. It can help to recognize early subclinical changes and to control the outcome of therapeutic modalities.

[Conservative treatment in haemophilia - Improving effectivity and establishing standards]. / Konservative Hämophiliebehandlung unter Berücksichtigung der Optimierung und Standardisierung.

Rehabilitation and physical therapy in the sense of functional health is based on the international classification of function. It takes in two considerations: function and structure of the body and their influence on personal and social activity. The integrative concept of joint function translates the basic concept of body function and structure on to the motion of the locomotive system. Stability needs motoric control. Motoric control and the integrated neural components are to be influenced through regulation of muscle tonus (massage, manual therapy, medical training therapy, electrotherapy and thermotherapy). The stability of the joint is controlled by the passive components. Passive structures are optimised through passive therapies like joint mobilisation. Active components of joint function are optimised through activation (medical training therapy, stabilisation, mono or multisegmental levels). Emotional and neuronal components can be triggered through kinesthetic exercises like PNF, Jacobsen relaxation, biofeedback training, mental training. Exact examination of the locomotive system will help finding all symptoms. This is how we individualise the therapy of symptoms and structures. The motion pattern generator shows us how to use the possibilities of functional influence on the motion pattern. We have a lot of afferent signals that need individualised functional therapy. This is why we need functional measurements like motion analysis on the basis of ultrasound. An other tool is the kinetic superficial EMG measurement of muscle function. We can use it to determine the status of the joint and it will lead to therapeutical decisions. All functional measurements will help to improve quality control of the physical therapy process. Even if the haemophilic patient is healthy he is not fit at all. Measurements of fitness will help us to improve special skills and establish the human being as a subject in society and environment. The main skill to be improved in haemophiliacs is coordination, strength of the stomach muscles and the vastus medialis and the flexibility of the hamstrings.

[Algorithm for the treatment of the haemophilic arthropathia of the upper ankle joint]. / Behandlungsalgorithmus der hämophilen Arthropathie des oberen Sprunggelenkes.

The upper ankle joint is one of the target-joints of the haemophilic patient. Therefore, the secondary arthritis of the upper ankle joint is one of the most frequent forms of haemophilic arthropathy. It is a secondary form of arthritis not only because of chronic synovitis and cartilage injury resulting from chronic recurrent intraarticular bleeds, but also due to the misalignment of the joint and abnormal joint stress. The consequences are manifest even in young patients and finally lead to upper ankle joint arthritis. In such clinical situations, the upper ankle joint-arthroplasty is a viable alternative to arthrodesis. After several years of bleeding of the upper ankle joint many patients with haemophilia suffer from symptomatic arthritis. Open joint cleansing considerably improves mobility in the upper ankle joint and alleviates the pain in the talonavicular joint. However, the recovered mobility of the arthritic upper ankle joint also activates arthritis, associated with severe pain. With no contraindication to upper ankle joint replacement, a cement-free prosthesis can be implanted. Three months after surgery, the patients are mobile, with good foot rolling properties without orthopaedic aids and without pain in the upper joint ankle. Concludion: In terms of biomechanics the upper ankle joint-arthroplasty is a superior alternative to arthrodesis in haemophilia patients. In order to minimize the complication rate, their treatment should be restricted to specially equipped interdisciplinary centers with adequately trained and experienced surgeons as well as haemostaseologists.

Haemophilia care in adolescents--compliance and lifestyle issues.

Adolescence is characterized by simultaneous physical, psychological, social and sexual changes that compound the challenges faced by parents, health care providers and adolescent haemophilia patients themselves. Compliance with prophylactic factor replacement therapy frequently declines when patients pass from childhood to adolescence. Familiarity with long-term joint damage is lacking among the current generation of children who have grown up with prophylactic treatment and the tendency of teenagers to focus primarily on short-term goals increases the likelihood that regular prophylactic replacement therapy receives low priority. Most adolescents continue prophylactic treatment prior to physical or social activities because short-term goals are more likely to be perceived as relevant. The most important factor that influences compliance is support from parents, peers and caregivers, who provide encouragement and support active participation in health care management. During adolescence, personalized treatment strategies that suit the patient and his lifestyle are essential to ensure optimal outcomes. Physical activity is important for all adolescents and can contribute to better coordination, endurance, flexibility and strength. Physical training also contributes to healthier joints and reduces the risk of bleeding episodes in teenagers with haemophilia; however, the selection of an appropriate sport that minimizes the risk of injury and matches the patient's skill and needs is important. Children with haemophilia may have disease-related functional deficits and often exhibit subclinical findings in the joints; therefore an orthopaedic examination, fitness check and motion analysis may assist in guiding preventive physiotherapy and the choice of sport.

[Haemophilia and knee function: are there differences between haemophilic and healthy children?]. / Hämophilie und Kniefunktion - Gibt es Unterschiede zwischen hämophilen und gesunden Kinder?

With early prophylactic treatment our haemophilic children grow up in good health. Nevertheless, we cannot prevent every bleeding. Those bleedings may be just subclinical but they could lead to overloading of the knee and more and more of the ankle joint in the long term. Motion analysis can help to understand this process and prevent it. A comparison of the gait function of haemophilic and healthy children of the age 3-18 years showed distinct functional differences especially in the youngest age group (3-6 years). Apparently, the coordination skill gait rhythm was significantly worse in the heamophilic group. All measured functional deficits can be treated with physiotherapy. Possible reasons for these early functional differences are overprotection and/or early subclinical bleedings.

[Upper ankle joint prostheses in haemophilia patients]. / OSG-Prothesen bei hämophilien Patienten.

UNLABELLED: Secondary arthrosis of the upper ankle joint (talocalcanean joint) is one of the most frequent forms of haemophilic arthropathy. It is a secondary form of arthrosis not only because of chronic synovitis and cartilage injury resulting from chronic recurrent intraarticular bleeds, but also due to the misalignment of the joint and abnormal joint stress. The consequences are manifest even in young patients and finally lead to subtalar joint ankylosis with the biomechanical disorder of foot drop (talipes equinus). In such clinical situations, implantation of a subtalar joint endoprosthesis is a viable alternative to arthrodesis. CASE REPORT: A man (age: 52 years), suffering from severe haemophilia A (residual FVIII activity < 1 %), no inhibitor formation. The patient has a history of several years of painful ankylosis of the right ankle joint and minor talipes equinus, and suffers from symptomatic talonavicular arthrosis. Open joint cleansing considerably improved mobility in the upper ankle joint and alleviated the pain in the talonavicular joint. However, the recovered mobility of the arthrotic upper ankle joint also activated the patient's arthrosis, associated with severe pain. As there was no contraindication to upper ankle joint replacement, a cement-free prosthesis was implanted. Three months after surgery, the patient was mobile, with good foot rolling properties without orthopedic aids, and without pain in his upper joint ankle. CONCLUSION: In terms of biomechanics an upper ankle joint endoprosthesis is a superior alternative to arthrodesis in haemophilia patients. In order to minimize the complication rate, the treatment of haemophilia patients should be restricted to specially equipped interdisciplinary treatment centers with adequately trained and experienced surgeons as well as haemostaseologists.

[Pseudo tumours in haemophilia patients]. / Pseudotumoren bei hämophilien Patienten.

UNLABELLED: Pseudo tumours are amongst the rare yet pathognomonic complications of haemophilia. They are old, encapsulated haematomas which due to their sometimes enormous size can cause massive complaints. These haematomas are surrounded by a thick fibrous capsule. They are attributed to persistent bleedings. The pathophysiology of pseudo tumors is not conclusively established yet. Some believe that they originate from bone material or the periosteum, while others suggest their development from soft tissue. They spread aggressively, displace the surrounding tissue, and cause secondary periosteal erosion of the bone. This results in bone resorption and destruction of surrounding muscular and soft tissue. Pseudo tumours develop slowly over many years. They occur primarily in adults and are largely unresponsive to conservative treatment. CASE: A 48-year-old man with moderate hemophiliaA (FVIII:C 2%) and no FVIII inhibitor. Due to recurrent bleeding into the muscle of the right thigh diagnosis of two pseudo tumours (psoas, adductor magnus). In 2004 tumour extirpation with subsequent relapse; because of high local bleeding tendency (despite permanent prophylaxis with FVIII concentrate and adjusted lifestyle) surgical revision in 02/2008. Postoperatively, no recurrent bleeding; the patient is fully fit for work three months later. CONCLUSION: In order to reduce the complication rate when a pseudo tumor is suspected, patients should be treated in a specially equipped interdisciplinary center with adequately trained and experienced surgeons and haemostaseologists.

[Muscular compartment syndrome of the forearm in a haemophilia inhibitor patient]. / Das muskuläre Kompartmentsyndrom am Unterarm bei Hemmkörperhämophilie.

UNLABELLED: Acute compartment syndrome is a complication in which microcirculation is impaired due to increased tissue pressure within a confined (osteo-fibrous) space and leads to neuromuscular dysfunction. A serious complication of haemophilia is the development of inhibitors. In this case the immune system produces antibodies to factor VIII or IX during substitution therapy of haemophilia A or B. These antibodies are directed against both, the substituted and the endogenous factors. CASE REPORT: A man (age: 81 years) with originally moderate haemophilia A who at the age of 63 developed an inhibitor during treatment of a bleeding event. Painful swelling in the left forearm occurred without any recollection of trauma, and failed to subside under factor substitution initially performed by the patient. This finding necessitated emergency fasciotomy of the forearm flexor compartment. CONCLUSION: In order to keep the complication rate as low as possible in the presence of hemophilia with inhibitors, the patients should only be treated in a specially equipped interdisciplinary treatment center.

[Backpain and haemophilia]. / Rückenschmerzen und Hämophilie.

A literature research for back pain in hemophilia (1990-2007) revealed only five papers! They all had lumbar or sciatic pain due to hematoma. All symptoms responded to factor VIII replacement. A similar research for a normal population showed hundreds of papers with a lifetime prevalence of 80% for back pain. A survey of 49 patient with hemophilia showed similar results. 70% had experienced back pain before. The reported pain of 40 to 70 on a visual analog scale was significant. 40% reported that the back pain would be more limiting than the pain associated with hemophilia. The hemophilic patient has learned to cope! The treatment of back pain will be of growing importance for hemophilia centers while the typical complaints of hemophilic symptoms will decrease due to better treatment protocols.

[Rehabilitation in rheumatic diseases]. / Rehabilitation bei rheumatischen Krankheiten.

Rehabilitation of rheumatic diseases is a difficult subject because it deals with a chronic life-long illness. The necessary therapy has to adjust to the changing symptoms of pain and malfunction. In this article we introduce the various means of physical medicine required. It will be a life-long rehabilitation process with changing handicaps and disabilities. Improvement with nearly no functional deficits and no clinical symptoms but impairment and disability show how varied this group of patients is. There is no borderline between the acute and chronic stage. We need an interdisciplinary approach and specialised centres for the rehabilitation of rheumatoid diseases.

[Age-related activation of the muscles during upright standing in patients with haemophilia]. / Altersabhängige Ansteuerung der Muskulatur im Stand bei Patienten mit Hämophilie.

Thehaemophilicarthropathyaffects thefunction of theknee joint muscles. The aim of thisstudywas to investigatethe myoelectrical signal ofknee jointmusclesin different agestages during upright standing. Surface EMG (SEMG) amplitudes of quadriceps, hamstrings and gastrocnemii were measured in 191 patients with severe haemophilia A (n=164) and B (n=27) while standing on an even surface. After an age-based classification of patients into the subgroups H(A): 17-29 (n = 37), H(B): 30-39 (n = 50), HC: 40-49 (n = 61), H(D): 50-70 in years (n = 43) the clinical WFH score for the ankle and knee joint was determined. To normalize the SEMG values amplitude ratios (percentage of cumulated activity) were calculated with respect to the specific limb. With increasing age, the patient showed descriptively a deterioration of the joint situation. The extensors of the knee joint reached significantly higher absolute and percentage levels in the muscle activity with increasing age (p < 0.05). The absolute amplitude values of the Mm. gastrocnemii showed no differences in the age groups while the relative levels were decreased. The present study shows that patients with increasing age and degree of haemophilic arthropathy develop a modified control strategy during upright standing, in the form of a shift from the plantar flexors to the extensors of the knee joint.

[Haemophilia and cartilage--the role of movement]. / Hämophilie und Knorpel. Die Rolle der Bewegung.

It is not the blood alone! Increased loading destroys cartilage and leads to arthrosis. Reduced mechanical stimulation leads to reduced cartilage nutrition and to cartilage degeneration, which leads to arthrosis. We know about the existence of functional disturbances that occur in early childhood before any structural changes are diagnosed. This is typical for haemophilia. Those disturbances and the way movement is disturbed has a strong influence on the loading of cartilage. This involves acceleration peaks, disturbed load distribution with reduction of contact area and a change of vector direction, which leads to increased cartilage loading. The disturbed function can be analysed very early with motion analysis. Easy physiotherapeutical interventions are able to optimise function again. On top of that we have a loss of muscle contraction pattern. Around the knee joint it is the weakening of the vastus medialis and the shortening of the knee flexors. The ankle joint suffers from a weakening of the tibialis anterior and a shortening of the calf muscles. During progression of the disease there will be a shortening of the weakened muscle and a weakening of the shortened muscle as well. Kinetic superficial EMG is able to quantify the status of the muscles and enables us to prescribe an individual therapy. Subclinical influences like microbleeds, in the beginning silent synovitis, later chronic synovitis, silent symptoms and overprotection are the cause of the functional overloading of the cartilage in patient with haemophilia. Silent symptoms can be discovered by clinical examination. Again this leads to the opportunity of a symptomatic therapeutic approach. All those facts could be the reason why there is an increasing incidence of haemarthrophathy of the ankle joint, even in patients with mild haemophilia in spite of adequate factor substitution.