Muscle bruising and pseudotumours
Muscle bruising is the result of injury to blood vessels in muscle tissue. The haemorrhage is usually related to a trauma or muscle strain, although on other occasions, it is the result of muscle overload. Clinically, these manifest as pain and functional impairment. Muscle bruising in a patient with haemophilia can result in complications such as infection, shortening of the muscle and/or tendon, muscular atrophy, peripheral nerve paralysis, compartment syndrome and even haemophiliac pseudotumours.
Evaluation of musculoskeletal injuries in haemophilia
Doctors specializing in the locomotor apparatus must not only treat the complications in joints but also regularly evaluate their patients, in order to prevent and diagnose possible musculoskeletal problems. For many years, evaluation of the degree of joint damage has been performed using two scoring systems: one based on orthopaedic examination and the other on radiological criteria. Both have been approved by the World Federation of Hemophilia (WFH). Today, the great progress in the treatment of haemophilia has made it necessary to seek new techniques for evaluating joints. The current aim of the multidisciplinary teams attending to patients with haemophilia is to unify the criteria and insist on the importance of both clinical examination and imaging in the early stages of haemophiliac arthropathy.
Methods for clinical evaluation
Physical examination of the locomotor apparatus in patients with haemophilia requires a full evaluation of the four limbs, paying special attention to the range of joint mobility, to muscle strength, to the presence of synovitis, to any joint instability and to the presence of axial deformities, as well as to biomechanical changes to the feet, deviations of the spine or any discrepancy in leg length.
For performing a clinical evaluation, the WFH recommends that the Gilbert (1980) examination protocol be followed. This scores seven items related to the loss of anatomical structure, biomechanical changes and joint deformity . However, this tool is not very sensitive when used for children or those patients at early stages of the disease. Other evaluation protocols have therefore been developed, such as the Manco-Johnson score , the Pettersson score , the European Paediatric Group (Stockholm scale)  and those published by Manco-Johnson et al., which are more precise, the Colorado PE-1 for adults, the Colorado PE-0.5 for children over 7 years of age and the Child PE for children aged between 1 and 6 years , and, more recently, the Haemophilia Joint Health Score 2.0 (HJHS) . Table 2 summarizes the comparison of the items and scoring used in the Gilbert and Colorado Joint Health Evaluation scoring systems for haemophiliac patients.
Diagnostic imaging techniques
Several diagnostic imaging techniques have been used to evaluate changes to the joints of patients with haemophilia. Classically, radiographs have been mostly used. However, the considerable delay between the appearance of haemarthrosis and the detection of radiologically visible anomalies is a problem .
This is the method usually used for evaluating the joints of patients with haemophilia, although it does have limitations when it comes to detecting soft tissue damage and synovial hypertrophy. It does, however, have the advantages of easy availability, standard projections and practically instantaneous results. Its use is most appropriate in adult patients with advanced joint disease (Fig. 3) . Several classifications of haemophiliac arthropathy based on radiological findings have been developed. Two evaluation methods were presented in the 1980s: the Arnold and Hilgartner classification developed in the USA  and the Pettersson score, which was developed in Europe and has been adopted by the WFH . The Arnold and Hilgartner classification , described in 1977, is a progressive measurement scale with five stages, which reflect the sequence of changes to joints, describing the worst findings and limitations, including damage to soft tissue. The Pettersson score, described in 1980 , is an additive measurement scale in which the presence of the different radiological findings adds points to determine the stage of the damage found in the joints. It does not, however, include soft issue.
This technique is easily available, is economical, is noninvasive and has no secondary effects. The use of ecography to evaluate joints is particularly appropriate in haemophilia patients in the early stages of the disease, as it can detect bleeding in joints, synovial hypertrophy and cartilage damage [24,25]. It is also the most useful radiological test for diagnosing muscle haematoma. It does not, however, show the inside of the bone.
This technique has advanced considerably in recent decades as a result of improvements to antennas and pulse sequences, which have provided higher spatial resolution and improved its ability to distinguish between the intra-articular components. It has a high resolution for assessing haemarthrosis, synovial hypertrophy, deposits of haemosiderin, focal cartilage damage, bone damage, subchondral bone and cysts, osseous pseudotumours, muscle bruising and other osteoarticular problems caused by haemophilia. It may also be of use in detecting chronic microhaemorrhages in patients undergoing prophylactic treatment who show no clinical evidence of bleeding . MRI is currently considered the gold standard for the exhaustive study of the joints (Fig. 4). It does, however, present three problems: accessibility, the complexity of the examination and the fact that no consensus has currently been established for evaluating its findings. Several scales have been created for measuring arthropathy using MRI. Nuss et al. developed a progressive MRI scale with four categories, the Denver scale, which gives the highest points to the loss of joint cartilage. In a European multicentre study, Lundin et al. independently developed a European MRI scale for evaluating haemophiliac arthropathy. In 2005, the IPSG's international subgroup of MRI experts (International Prophylaxis Study Group) presented a preliminary scale, which combined the Denver and European scales [29,30].
Rehabilitation therapy for musculoskeletal problems caused by haemophilia
Haemophilia is considered to be a haematology-based disease which requires orthopaedic treatment. Current treatment therefore aims to prevent musculoskeletal injuries and maintain the locomotor apparatus in optimal condition. Haematologists, rehabilitation specialists and orthopaedic surgeons all, jointly, have central roles in the diagnostic and therapeutic aspects related to the locomotor apparatus in patients with haemophilia.
It is well established that physical medicine benefits people with haemophilia by protecting the musculoskeletal system from repeated bleeding. Rehabilitation, together with clotting factor replacement therapy, has revolutionized the conservative management of these patients in developed countries and reduced their morbidity/mortality rates. Rehabilitation specialists have several functions when treating patients with haemophilia, which are summarized as follows :
- Bleeding and its musculoskeletal consequences should be prevented.
- The locomotor apparatus should be maintained in optimal condition in order to prevent acute injuries. Prevention is especially important for children who are undergoing primary prophylaxis with no – or few – haemorrhages. Patients must be encouraged to avoid becoming overweight.
- Patients must be educated and encouraged to perform physical activity, in accordance with their age and physical characteristics. They must be advised on the type of exercise, its intensity, duration and frequency and the precautions to be taken into account.
- A routine physical examination of the patient should be performed in order to obtain the patient's detailed clinical history. Regular checks on the locomotor apparatus should be performed at least every 6 months during osteoarticular development, and annually for adult patients. This will allow detection of signs that damage and injury is occurring.
- Any musculoskeletal damage or injuries should be diagnosed and treated early and effectively, when they appear, in order to prevent consequences and sequelae and thus shorten the time spent in hospital.
- An individualized early postoperative treatment should be designed to achieve the maximum functional recovery possible in patients undergoing orthopaedic surgery.
- Any consequences and sequelae arising from damage or injuries, which have not been cured, should de detected and treated, for example patients who have lost joint mobility and suffer muscular hypotrophy as a result of joint damage in an advanced state.
- Difficulties the patients experience in their daily activities and in participating in society must be handled, so that they maintain the highest possible levels of independence and autonomy.
Despite primary prophylaxis some patients suffer clinical haemorrhages . Medical rehabilitation initially requires a clinical evaluation of the patient's physical state in order to develop a customized therapeutic programme .
The objectives of the treatment of damage to the locomotor apparatus are to
- alleviate the pain,
- recover the range of movement in the joint,
- prevent muscle atrophy,
- improve muscle power and strength,
- recover the proprioception,
- prevent sequelae and deformities,
- improve the functional abilities,
- maintain an appropriate pattern of movement when walking,
- reduce the frequency of joint bleeds and
- improve the quality of life.
To achieve these, there are several possible treatments, which are summarized in Table 3. The therapy should be continued until the physical and functional objectives proposed have been achieved .
We will now analyse the conservative treatment of the musculoskeletal problems which occur most frequently in people with haemophilia, that is haemarthroses, synovitis, damage to joint cartilage and muscle bruising. The practical and theoretical principles of rehabilitation are equally applicable to both young and adult patients, those with circulating inhibitors and those without.
Treatment of haemarthroses
The first and fundamental treatment is clotting factor replacement therapy. It is known that if the intravenous infusion is performed immediately after the appearance of the first symptoms, or at least during the first 2 h after their onset, the amount of bleeding will be limited . When there is a massive amount of intra-articular blood, arthrocentesis (joint aspiration) must be performed as soon as possible . We must not forget other measures such as immobilization in the functional position for 3–4 days, local cryotherapy and recommendations for avoiding overloading the limb. For example, in the case of a leg, a compression bandage or static splint should be used and walking should be permitted using walking sticks to reduce the load. In addition, oral medication could be used to control pain.
Early, once the bleeding has stopped, a supervised and customized programme of rehabilitation should be prescribed in order to prevent any possible functional sequelae. Once 24 h have passed, isometric exercises can be started and then repeated for short periods. In the case of the knee, mobilization of the kneecap will be necessary in order to prevent any adhesions in the extensor apparatus. Ultrasound or short-wave treatment may be used – always in pulsed form – as well as analgesic electrical stimulation [transcutaneous electrical nerve stimulation (TENS)] to reduce pain . On days following this, assisted kinesitherapy is advisable in order to increase the range of movement in the joint. Concentric and eccentric isotonic exercises should be progressively introduced in order to improve muscle trophism, preferably in the open kinetic chain and then in the closed kinetic chain. Electrical muscle stimulation may also be used, if necessary. Finally, coordination and proprioception exercises are added .
Treatment of synovitis
Synovitis must be treated as soon as possible to prevent the appearance of recurrent haemarthrosis . In principle, conservative treatment is recommended, which involves 3–6 months of factor VIII/IX replacement therapy (secondary prophylaxis). However, the inflammatory process of synovitis suggests that it is advisable to combine the conservative treatment with physical therapy. Use of anti-inflammatory drugs (COX-2 inhibitors) is also recommended. Topical NSAIDs provide symptomatic relief and can be applied through massage therapy, iontophoresis and sonophoresis.
Kinesitherapy treatments should also be used with the fundamental objective of maintaining or improving mobility, muscle trophism, proprioception and the pattern of movement. If muscle control is poor, electrical stimulation may be used. Ultrasound and various electrotherapy treatments – always in pulsed form – are considered useful for treating synovitis.
Radiosynovectomy, also known as radiation synovectomy, is advisable if, after 6 months, synovitis persists or haemarthrosis reoccurs despite the replacement and rehabilitation therapy . Today, it seems commonly accepted that radiation synovectomy is the treatment of choice, as it acts directly on the synovial membrane. This consists of an intra-articular injection of a radioactive substance with the aim of stabilizing the synovial membrane of the joint in order to reduce the haemarthroses . Radiation synovectomy is performed using radioactive isotopes; the most commonly used are phosphorus-32 (32P), yttrium-90 (90Y) and rhenium-186 (186Re). These nonsurgical techniques are especially important for patients with circulating inhibitors. Surgical synovectomy (arthroscopic) is only indicated if three consecutive radiation synovectomy treatments, at an interval of 6 months, fail to reduce the frequency of the haemarthroses .
Treatment of damage to joint cartilage
We have already mentioned that haemophilic arthropathy includes, in addition to synovitis, damage to the joint cartilage which is visible in radiographs in the form of a reduction of the space in the joint, marginal erosions, subchondral cysts and joint deformity. In addition, haemophilic arthropathy is associated with atrophy and loss of muscle strength . In these cases, the objective of the treatment is to alleviate the pain, improve articular and muscular stability, stabilize the joint, control the alignment of axes, reduce impact when loaded, improve joint function and reduce the impact of the disability .
As a conservative treatment, chondroprotective drugs such as chondroitin sulfate or glucosamine sulfate and intra-articular injections of hyaluronic acid and dexamethasone can also be used . However, the role of these drugs is still controversial .
Physical therapy implies a multidisciplinary approach which includes physiotherapy, occupational therapy, the use of orthoses, technical aids, adaptations to the home and assistance in integrating into society and work and education . Kinesitherapy, hydro-kinesitherapy, thermotherapy, ultrasonotherapy and electrotherapy techniques , all of which must be applied by an experienced therapist, are very useful. The electrotherapy treatments usually include a wide variety of techniques (TENS, interferential, magnetic therapy, laser, etc.) which can be used for the various symptoms of haemophilic arthropathy. The benefits of 30–60 min of physical activity per day are also known.
The orthoses most frequently prescribed for haemophilia patients are elbow, knee and ankle braces to stabilize joints; dynamic stretching orthoses to improve flexion deformities; lifts for patients with legs of different lengths; external or internal wedges to improve the support of the rear part of the foot; and plantar orthoses (inlays or inserts) to reduce the pressure on the metatarsals in cases of excessive pressure on the heads of the metatarsals. For arthropathy of the ankle, it may also be advisable to use protective pads to absorb the impact of the heel and/or orthopaedic shoes designed to hold the ankle better .
If the conservative treatment fails or the deformities cannot be reduced, surgery will be necessary. In terms of surgery, in order to alleviate the symptoms of arthropathy, the following may be performed: joint debridement using arthroscopy, alignment osteotomy, whole joint prothesis (knee, hip) and arthrodesis (ankle). In these cases, a specific rehabilitation programme after surgery is indicated.
Treatment of muscle bruising
The initial treatment consists of applying clotting factor replacement therapy, pain medication, rest, ice and placing the limb in an antalgic position during the first 48 h. It is not advisable to aspirate the muscle haematoma. On some occasions, the use of soft traction may be necessary to prevent any shortening of the muscle. TENS and pulsed-mode ultrasound may also be applied. Passive kinesitherapy may be necessary in order to recover the range of movement in the joint. Muscle control exercises will progressively become appropriate, depending on the amount of pain. Isotonic contractions should preferably be performed in the open kinetic chain and then in the closed kinetic chain. Likewise, the work should initially be concentric and then eccentric. Electrical muscle stimulation and hydro-kinesitherapy techniques may be very useful. The therapy must always be complemented with proprioception exercises and exercises to improve limb function. If the clinical symptoms of the haematoma are accompanied by paresis of any peripheral nerve due to compression neuropathy, a treatment must be applied for that injury.
Physical activity recommendations in persons with haemophilia
Under ideal haemostatic control conditions (primary prophylaxis), people with haemophilia can achieve good physical condition which will allow them to enjoy both physical activity and a daily life without limitations. Currently, children undergoing primary prophylaxis are quite close to this ideal situation.
It is known that after submaximal physical exercise, significant changes occur in fibrinogen, factor II and factor VII, that is the clotting parameters improve in patients whether they have severe or mild haemophilia . Additionally, the reduced physical activity of patients with haemophilia is associated with reduced aerobic capacity and weaker muscle strength . Additionally, problems in a given joint lead to lack of use, which will result in muscular hypotrophy and a change in the type of muscle fibre . This weakness in muscles and joint instability increase a patient's vulnerability to mechanical demands, increasing the risk of injury and establishing a damaging vicious circle . Additionally, haemophilia patients with a history of haemarthrosis have biomechanical changes (kinetic and kinematic) to the walking cycle and moderate balance mechanism dysfunctions, which imply a greater risk of falling [35,47]. Physical limitations reduce the load on bones, which may lead to bone demineralization .
Medical attitudes to haemophilia patients participating in sports have been very varied and have generally been linked to the different modes of haematological therapy. Until 1970, haemophilia patients were not advised to undertake physical activities. Clinicians’ opinions on physical exercise and sports have been changing, and currently favour these activities . It is certainly known today that patients with haemophilia can and must be motivated to perform physical activities. Additionally, developing good physical condition considerably reduces the risk of spontaneous haemorrhages in joints, brain haemorrhage, cardiopathies, diabetes and high blood pressure. Regular physical activity also assists in maintaining good general physical condition by providing normal musculoskeletal function, which is a factor that protects against bleeding in muscles and joint . Physical exercise and taking part in sports improves not only a patients’ physical well being but also their psychological and emotional state. Although patients with haemophilia still experience psychosocial barriers to physical activity, with the right social environment and medical support, they can be as physically active as healthy people of the same age . This positively influences the perception of patients about their quality of life.
For these physical activities to be carried out, safety conditions must be taken into account. The most important are to ensure at least a minimum level of clotting factor through prophylactic treatment and to have a good knowledge of a patient's physical state in order to select the most suitable sport in each case [4,49].
The factors which contribute to the development of an appropriate physical condition are potency, muscle volume, speed of contraction, endurance and coordination. The factors which influence the choice of sport are the patient's tastes, the ability, previous experience and the attitude of others taking part. It is very important for participants to learn the basic skills of the sport and train habitually with a trainer or coach and with suitable equipment and protection .
Recommended sports include walking, cycling and swimming . Others are badminton, bowls, cycling, dancing, fishing, golf, hiking, sailing, table tennis, diving and yoga . High-impact sports, however, which may lead to bleeding, are not advisable. The American Pediatric Society has set out three groups of sports with patients with haemophilia in mind, classifying them as high-risk, medium-risk and low-risk sports. There are, however, some haemophilia patients who play contact sports for years (classified as high risk) and have no incidents of bleeding. In recent years, therefore, new classifications have arisen based on new criteria, which emphasize that the decision on whether or not to take part in a sport depends more on the patient's individual characteristics than on their clinical status. The new parameters used for recommending a sport to a haemophilia patient are summarized in Table 4.
Some authors have suggested that more studies are needed on the role of physical education in the treatment of patients with clotting disorders . It is also necessary to bear in mind that there are no completely safe sports, as all have their own advantages and disadvantages . Additionally, modern haemophilia therapies will probably broaden the range of possible sports .
A knowledge of the musculoskeletal damage caused by haemophilia (haemarthrosis, synovitis, arthropathy and muscle bruising) is essential for providing a suitable and customized treatment. Physical medicine and rehabilitation techniques, which are based on physical means, are intended to reduce the impact which the above-mentioned injuries and their consequences or sequelae can have on the quality of life of patients with haemophilia. Prophylactic haematological treatment makes it possible to advise patients to take part in a sport, provided that certain basic safety conditions are obeyed.
Conflicts of interest
The authors have no conflicts of interest.
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Keywords:© 2013 Lippincott Williams & Wilkins, Inc.
haemophilia; physical medicine; rehabilitation; treatment