Rehabilitation

Past treatment for hemophilia and von Willebrand disease

Typical hemophilia-related bleeding episodes, as well as the hereditary characteristics of the disease, were described in a part of the Jewish Talmud, the Tosefta, in second century BCE.

John Conrad Otto in 1803 and Leggs in 1872 described chronic muscle and joint problems in hemophilic patients. However, it was König who in 1892 characterized the clinical stages of the development of hemophilic arthropathy, considered to be different from other types of arthritis. The use of therapeutic measures then was essentially unimaginable, considering the average life expectancy of a hemophiliac was approximately 11 years and there was no effective way to stop bleeding.

Towards the end of the 19th century and beginning of the 20th century, the occurrence of hemophilia in several royal families sparked an interest in studying the disease. However, there are very few articles about specific rehabilitation efforts.

In 1962, Biggs and McFarlane proposed changing the direction of hemophilia therapy, suggesting it include both hematologic and orthopedic aspects. This thinking, along with advances in replacement therapy, has given rise to the development of a present-day multidisciplinary approach to treating hemophilia.

Hospital Donostia´s Rehabilitation Service

According to the World Health Organization, rehabilitation is a coordinated effort of medical, educational and professional measures designed to give a patient back as much of their independence and functional capacity as possible. A hemophilic patient can develop musculoskeletal problems that give rise to a disability that requires therapy to a greater or lesser extent.

Objectives for the treatment and rehabilitation of hemophilia should include not only functional recovery from lesions, but also the prevention of bleeding and health through exercise. Physical therapy is generally geared towards recovery from acute episodes. However, lesions become chronic with recurrent bleeding and the loss of function requires more complex objectives. For this reason, the rehabilitation team is a multidisciplinary unit that includes a rehabilitation physician, physiotherapist, orthopedist and sometimes an occupational therapist.

There are no specific rehabilitation techniques for a hemophilic patient, but there is a series of determinants used in evaluating risk/benefit. These include various forms of

kinesitherapy (movement therapy),

hydrotherapy (therapy using water),

cyrotherapy (cold treatment therapy),

electrotherapy (therapy using different types of currents),

ultrasound and other orthopedic mechanisms.

With more than twenty years of experience in treating hemophilia, Hospital Donostia’s Rehabilitation facilities offers patients excellent medical equipment and heath services. In the 1990s, the department’s team of professionals pushed for and achieved a major improvement in the therapeutic assistance it provided its hemophilic patients. The result has been immediate clinical evaluation, better treatment techniques and much less paperwork.

The Rehabilitation department always works closely with Hematology and the Orthopedic Surgery Unit whenever a patient requires surgery. The team responsible for treating hemophilia and von Willebrand patients includes the following persons: 1 rehabilitation physician (Dr. Margarita Lecuona Navea) 1-2 physiotherapists as needed (Ms. Carmen Grijalba Legaz and Ms. Maria Josefa Martínez Artola) 1 orthopedist 1 occupational therapist (if necessary)

Sports

Sport and physical activity constitute a fundamental part of a hemophilic patient’s overall treatment and should be a part of their life from early childhood, as building strong muscles provides good joint protection, which reduces spontaneous bleeding episodes.

Today’s comprehensive hemophilia treatment programs allow a hemophilic individual to be more independent, confident and responsible. At the same time, these afford them the opportunity to participate in sport activities, something considered unimaginable in the past.

Until the end of the 1960s, treatment consisted of keeping hemophilic patients as inactive as possible so as to prevent bleeding episodes. Consequently, they suffered a loss in muscle tone, which in the end provoked more bleeding into the joints and articular lesions.

The majority of people currently involved in treating hemophiliacs are convinced that sport and physical activity are important. However, their opinions differ regarding which sports are permissible and which are too dangerous. It is important for preschoolers to participate in preschool physical education programs because vigilance on part of the teachers assures avoiding activities or apparatus that could cause injury.

During the first years of elementary school, the games children play are generally not very rough. As a result, in playing they can develop agility, strength, coordination and resistance, all of which are essential for maintaining a healthy physical and mental state. In order to prevent injury, it is important to warm up the body before starting any type of sport activity.

Extrinsic factors such as body weight, speed, number of repetitions, equipment, etc., as well as intrinsic factors such as dysmetria of the lower limbs, alignment anomalies, muscular imbalances, weakness or inflexibility can provoke, either by themselves or in combination with others, injury due to overload. Important factors that come into play when children do sport activities include flexibility, stretching, doing repetitions and taking breaks. Most doctors recommend sports such as swimming, ping-pong, golf, walking and fishing and advise against any type of contact sport (karate, wrestling, etc.) and skateboarding.

Choosing a sport is well within the competence of a hemophilic individual and is a decision that should be made individually, even if this decision can lead to error. At no time should they be forced to participate in the sport they have chosen. The role of the doctors and family in this decision making process is to provide factual information. It is understandable that hemophilic patients and their family members have difficulty in choosing an appropriate sport, especially since there is a lot of contradictory information regarding this issue. As a general rule of thumb, those with severe hemophilia should avoid all contact sports and use replacement therapy when doing sports that have some sort of risk factor, even though many patients currently receive prophylactic therapy. As mild or moderate hemophiliacs are less prone to random bleeding episodes, they can carry out more aggressive activities without the risk of bleeding.

Orthopedic Surgery

Surgery is important in treating a hemophilic patient when there is a particular functional problem to correct and when other, more conservative measures have failed. Deciding whether or not to undergo surgery should be an individual decision. It is vital that treatment be a coordinated effort among the surgeon, the hematologist and the rehabilitation physician. The most frequent surgical techniques used on hemophilic patients include synovectomies, tendon lengthening, arthrolysis, joint debridement, osteotomies, arthrodesis and joint replacements. ·

Synovectomy Consists of surgically excising the hypertrophic synovial membrane damaged from recurrent hemarthrosis. Before undergoing a synovectomy, it is worth evaluating the possibility of synoviorthesis. This is a less aggressive technique that entails injecting a radioactive drug, osmic acid or antibiotic such as rifampicin into the joint cavity in order to provoke fibrosis of the synovial membrane and reduction pain and bleeding.

Tendon Lengthening Done most often on the popliteus tendon to correct knee flexion contractures and on the Achilles tendon to correct equinus feet. ·

Arthrolysis A technique performed on young hemophiliacs who do not require a total knee replacement or who suffer advanced knee arthropathy. Alleviates joint pain and postpones joint replacement surgery. ·

Osteotomy Young people with hemophilia sometimes experience malalignment of the knee or ankle joints and need an alignment osteotomy to correct the problem. This procedure consists of fracturing the deformed bone in the necessary spot in order to realign the joint.

Arthrodesis A joint-fusion procedure currently only done on people with severe arthropathy of the ankles in order to alleviate pain and restore movement ability.

Joint Replacement Hip and knee replacements are the most common procedures performed on hemophilic adults. Less common are shoulder, elbow or ankle replacements most likely because they have not had the same success rate. Starting rehabilitation shortly after surgery is often necessary for improving mobility, alleviating pain, recovering maximal functional capacity of the joint and, in general, helping hemophilic patients return to their normal lifestyle.

Recommendations and precautions

Hemarthrosis, synovitis and hematomas are the most common musculoskeletal lesions occurring in hemophilia A and B patients. Many studies cite these lesions as being the primary cause of blood-derivative consumption (83 - 87%). Furthermore, these lesions are considered to be the most serious and crippling hemophilia-related pathologies because they considerably affect a patients normal daily activities.

The first signs of hemophilia-related bleeding appear during infancy, coinciding with the phase when children start becoming independent (standing up, crawling, walking, etc). Rarely is neonatal hemophilia observed. There is a direct correlation between the severity and frequency of bleeding episodes and the blood levels of the deficient clotting factor.

Hemarthrosis

Defined as blood within a joint space usually, though not necessarily, as the result of trauma. Commonly occurs in people with severe hemophilia. Often occurs in target joints, such as the knees, elbows and ankles. These joint have a significant amount of synovial tissue, their stability depends on ligaments and strong muscles and they have a special type of articular mechanism. Frequency of occurrence varies with patient age and hemophilia severity; the younger the patient, the greater the severity. Hemarthrosis can be classified as either acute or chronic depending on how long the incident lasts. Acute hemarthrosis can occur spontaneously or following trauma. The first symptom is often characterized by sharp joint pain that worsens with movement, followed by swelling, warmth and impaired mobility. The affected joint naturally tends to adopt the least painful position.

The first step to take involves replacement therapy, which can be done either at home or in the hospital and gives clear, immediate results. A rehabilitation physician should evaluate the lesion within the first 24 hours and inform the hematologist of its severity and the therapeutic techniques that will be used. In this way, the hematologist can determine the adequate infusion doses and the length of treatment.

The second step entails joint therapy, bearing in mind whether the hemarthrosis was a first-time occurrence or a repeated episode. With respect to the former, its severity is determined and if necessary, joint aspiration (arthrocentensis) can be used to relieve elevated articular pressure.

The steps to take whether or not joint aspiration is required are the following:

Rest the joint for no more than 48 hours in its functional position or, if unable to do so, in the least painful one. The affected joint should be splinted or dressed with compressed bandages.

Do isometric exercises as long as they do not cause pain.

Use local cyrotherapy, keeping the joint protected at all times.

Lesion improvement after the 2nd or 3rd day determines whether or not to keep the joint immobilized during the day (it is kept immobile at night). Controlled articular movement is increased using different forms of kinesitherapy until joint function is fully recovered.

Electrotherapy and hydrotherapy are also commonly employed during this recovery period.

Synovitis

Inflammation of the synovial membrane that always occurs after an intra-articular bleeding episode.

This condition is considered the underlying cause of recurrent bleeding and the origin of hemophilic arthropathy. It is manifested by the swelling of soft areas of the joint and varying degrees of muscular hypotrophy.

In most cases there is altered joint function and almost no pain.

Replacement therapy as previously described should be complemented with the use of steroid-free anti-inflammatories and an individualized muscle-building kinesitherapy program that is progressively longer and more intense. A sport activity that may help attain physiotherapeutic objectives, as well as the prescription of a corrective or protective orthopedic appliance, should also be considered.

Therapy starts at the hospital only after the patient has adequately recovered. Rehabilitation should work specific muscle groups with repetitions, being sure to progressively increase resistance. Afterwards, it is best the patient continue rehabilitation at home.

Periodic check-ups allow for making any necessary modifications and checking the patient is doing the exercises properly. If after six months the problem persists, other more aggressive therapies would be considered, such as synoviorthesis or a surgical synovectomy.

Hemophilic Arthropathy

Joint bleeding is the underlying factor in hemophilic joint deterioration. Articular degeneration and progressive synovial fibrosis are mainly caused by the deposition of hemosinderin and a secondary inflammatory component in the synovium over time.

Muscular hypotrophy and the loss of mobility are two of the primary indicators of chronicity, followed by a possible onset of mechanical pain and joint deformity. Radiologic examination is used to determine the status of this condition.

The main objective of rehabilitation at this stage is to try to minimize lesions and stop their progression. Physical therapy techniques will essentially included isometrics, stretching and exercises that serve to relax contractured muscles. Essential therapeutic measures involve the use of protective or corrective splints, as well as mechanisms for attenuating pain, such as electrotherapy, thermotherapy and hydrotherapy. In order to decide what surgical techniques are best for each specific case, it is crucial there exist utmost collaboration with the Orthopedic Surgery Unit.

Hematomas

Muscle hematomas are the second most frequent bleeding-related incidents in a hemophilic patient’s musculoskeletal system. Severity is determined by their size and location and in many cases the etiological cause of superficial hematomas is unknown.

Symptoms are much less obvious than those of hemarthrosis. The first signs might include localized discomfort and it can take 48 to 72 hours for pain to reach its maximum intensity depending on where the pain occurs and how much tension there is between the muscle and its fascia. The degree of immobility and the least painful position will depend on the severity and location of the hematoma. The most severe hematomas are those which occur in the psoas-iliac muscle, calves and forearms because they can injure neighboring nerves and cause a compartmental syndrome. An ultrasound is the most useful tool for determining the size, shape, location and evolution of the hematoma. ·

Replacement therapy is the first step to take and should be administered as early as possible in order to quicken healing time and avoid further complications. · Aspiration of the hematoma should never be attempted.

Rehabilitation consists of the following:

Immobilization of the affected area within the first 24 hours in the functional position, or if unable to do so, in the least painful position. In the hours following, progressive splints are used to obtain the functional position with as little muscle tension as possible.

Local cyrotherapy, which acts as a vasoconstrictor and is analgesic. o Isometric exercises for the affected muscle and the adjacent ones, followed by progressive correction exercises of the problem positions.

Ultrasound vibrations are often used on solid or mixed-density hematomas.

Electrical stimulation and biofeedback techniques are useful for regaining muscle strength.

Prevention

We believe prevention is the most important objective in any treatment program. This of course requires a utmost collaboration effort between patient and therapy team. The scope of our treatment program encompasses the following:

Periodic evaluation of the affected extremity in order to provide the patient and their family with an early diagnosis of and solution to the underlying pathology.

Prescription of individualized physical therapy programs that are fun, simple, painless and easy to do at home. Periodic revisions to check proper program execution and make any necessary modifications. The end goal is the assimilation of certain healthy habits that keep the affected extremity fit in order to prevent or reduce articular bleeding.

Advice on recommended physical activities tailored to the patient´s personal preferences and physical condition. As much as is possible, children should not be isolated or overprotected in their family, school or recreational environments.Achieving this requires a strong working relationship with the unit’s psychologist, who carries out all necessary meetings and activities outside of the hospital.

Proper instruction and adjustment of protective devices such as helmets, knee and elbow pads, etc. in certain physical activities.