musculoskeletal complications of hemophilia: the joint

TREATMENT OF HEMOPHILIA 

MARCH 1997 • NO 6 

MUSCULOSKELETAL 

COMPLICATIONS OF 

HEMOPHILIA: THE JOINT 

Marvin S. Gilbert 

Mount Sinai Medical Hospital 

New York, U.S.

Published by the World Federation of Hemophilia (WFH) 

© Copyright World Federation of Hemophilia, 1997 

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recommendations of the World Federation of Hemophilia, its Executive Committee, or its staff. 

Treatment of Hemophilia Monographs 

Series Editor 

Dr. Sam Schulman

Musculoskeletal Complications of Hemophilia: 

The Joint 

Marvin S. Gilbert 

Orthopedics is the medical specialty that deals with afflictions of the locomotor system, that is 

to say, disorders of the bones, joints, muscles and peripheral nerves. It is of interest that the 

word orthopedics has no direct relationship to any of these structures, but is derived from the 

Greek “ortho” (straight) and “pedia” (child). Literally, the word means “straight child”. It is 

in hemophilia that it is most appropriate in that the orthopedist is asked to straighten the bent 

limbs of the child. However, because of hematological advances of the past decade, it has 

become our aim to prevent the child from ever becoming bent, to keep the child straight so 

that he or she can participate in all the normal activities of his or her peers. 

In the early 1800s, arthritic joints were reported in persons with hemophilia, but it was not 

until 1868 that Volkmann stated that in hemophilia "bleeding into joints occurred either 

spontaneously or following minimal trauma." In 1892, König, an orthopedic surgeon, 

attempted to operate on several affected knees, but was not able to control bleeding by 

surgical means alone. The demise of the 

patients allowed him to study the joint and 

he was the first physician to show that the 

arthritis associated with hemophilia is 

directly linked to bleeding into the joint. 

The orthopedic community seemed to 

abandon hemophilia following König's 

failures until the 1950s when Henry Jordan 

tried to stop bleeding and correct 

contractures with casts and braces. In the 

1960s, factor replacement became reality 

and many orthopedic interventions, 

including physical therapy, surgical tendon 

lengthening, joint replacement and 

arthroscopy could be used to alleviate the 

effects of past bleeding. The challenge of 

the next century is to prevent any of these 

musculoskeletal complications from ever 

occurring. 

Normal Knee Joint 

Illustration by Bernard P. Woschek

The Acute Bleeding Joint (Acute Hemarthrosis) 

The most common sites of bleeding in hemophilia are the joints and muscles of the arms and 

legs. The vast majority of bleeding occurs into the joints of the extremities, although bleeding 

may occur into most any joint. There appears to be a predilection for large joints, namely the 

ankles, knees, hips, elbows and shoulders. Spontaneous bleeding into joints is limited to 

persons with severe hemophilia. Bleeding may occur following trauma in patients with mild 

and moderate hemophilia. Clinical manifestations of factor VIII and factor IX deficiency are 

indistinguishable. 

I would like to point out why bleeding occurs into the joint cavity and the reasons that the 

characteristic arthritis termed "hemophilic arthropathy" develops following recurrent bleeding 

into the joint. 

König pointed out that there were three clinical stages to the development of hemophilic 

arthropathy. He termed the first the “recurrent bleeding” stage. Following this, there is an 

inflammatory response and he termed this the panarthritis stage. The third and last stage he 

called the fibrosis stage and contracture commonly known as arthritis. He was able to point 

out that bleeding is not a common manifestation of the last stage. 

Margaret Swanton followed a series of hemophilic dogs and in 1959, she described the 

natural history of bleeding into a joint. A diffuse hematoma first develops in the synovium 

which eventually extends into the joint cavity. Following reabsorption of the bleeding, there 

is an inflammatory response in the synovial tissue. This causes the tissue to swell and become 

filled with blood vessels. Recurrent bleeding then occurs and the synovium begins to produce 

enzymes which cause further inflammation within the joint. Eventually the bleeding causes 

destruction of the synovium and it is replaced with scar tissue. This is referred to as fibrosis. 

However, following the bleeding, the iron that is left deposited in the joint and the enzymes 

that are produced by the synovium begin to cause changes in the smooth cartilage that lines 

the end of the bones. The cartilage breaks down and becomes roughened. These changes 

eventually result in an arthritic and destroyed joint. 

The clinical picture of joint bleeding is characterized by pain, swelling and limitation of 

motion. Frequently the patient states that he knows he is bleeding prior to any of these 

findings. This period has been termed the “aura”. It may be accompanied by mild stiffness 

and sometimes the patient describes a feeling of tightness or tingling. It is believed that this 

corresponds to the time when the bleeding is limited to the synovium. Once the bleeding fills 

the joint, it becomes warm, swollen and tense. Limitation of motion and secondary muscle 

spasm follow. When treatment is started early, the bleeding will stop quickly and the 

symptoms may recede quickly. However, it is very common for the symptoms to resolve 

slowly and at times the bleeding may recur despite what seems to be adequate treatment. 

A joint that displays a tendency towards recurrent bleeding has been termed a "target joint" by 

Aronstam. Once a target joint is established, complete resolution is possible, but more 

commonly there is a slow response to treatment and arthritis will develop. 

2

No joint hemorrhage is so minor that treatment may be deferred or postponed, and no plan of 

treatment is complete unless it includes replacement of the missing clotting factor to a level 

sufficiently high to stop the bleeding. This level must be maintained long enough to stop the 

bleeding and to prevent recurrence. At the present time, episodic replacement therapy is the 

mainstay of treatment in hemophilia. Most spontaneous hemarthroses respond to a single 

infusion of factor VIII or factor IX, which achieves a level of 30% to 40%. If swelling or 

spasm is present, treatment to levels of 50% is usually required and the infusions may have to 

be repeated at 12- to 24-hour intervals. Many patients are on programmes of home care. 

Follow-up for minor bleeding episodes that respond to a single infusion of factor can be left 

to the discretion of the educated and motivated person or family with hemophilia, but 

physician evaluation is required if the joint of bleeding does not respond within 12 to 24 

hours. 

Minor hemarthroses may not require immobilization, but some individuals find relief from 

elastic bandages, foam rubber splints or slings. Some people find that ice helps in the relief of 

pain. Severe hemarthroses, in which there is swelling, spasm or infection of the joint, should 

be treated with splinting in a position of comfort. Prefabricated splints, bulky compression 

dressings, or home-made plaster splints can be used. Attempts at correcting the deformity 

should be deferred until bleeding has been stopped; this will be discussed in the next section. 

Rest is required for resolution of the acute symptoms, but, in the long run, rest will lead to 

limitation of motion and muscle atrophy. Therefore, joint rehabilitation must be started as 

soon as possible, beginning with isometric exercises. As soon as the acute symptoms subside, 

muscle strengthening and range of motion exercises must be started. 

Bleeding into the joint does result in pain. Analgesics may be required to alleviate this and 

should be carefully monitored by the treating physicians. Any aspirin-containing compound is 

contraindicated because of the risk of further bleeding due to inhibition of platelet function. 

Intramuscular injections should be avoided. The use of narcotics may be required when the 

pain is severe, but indiscriminate use must be discouraged because of the chronic nature of 

the bleeding and the risk of addiction. Oral steroids have been shown to decrease the 

inflammatory processes associated with bleeding and are used at many hemophilia centers. 

Despite the well-known complications, few problems have been associated with their use for 

three to four days following an acute bleeding episode. Recommended regimens include 

Prednisone, 1 to 2 mg/kg/day, for three to four days. Non-steroidal anti-inflammatory 

medications (NSAIDS) have not proven very beneficial in decreasing the acute inflammatory 

reaction and probably should be avoided in acute bleeding episodes because of their 

inhibition of platelet function and the potential to enhance bleeding. Their judicious use, 

however, may be helpful in controlling arthritic pain and will be discussed in the next section. 

Aspiration or removal of blood from the joint with a syringe and needle can be considered. 

Theoretically, the early removal of blood from the joint should result in a more rapid response 

to treatment and should be beneficial in delaying or eliminating the development of arthritis. 

The disadvantages are that the patient must either come to a physician's office or to a hospital 

3

emergency room. A secondary problem is that young children will frequently delay reporting 

a hemarthrosis to their parents because “they don't want to be stuck with a needle in the 

joint”. The definite indications for aspiration include: (1) a tense and painful joint which has 

not responded to factor replacement within 24 hours; (2) pain which seems out of proportion 

to the physical or clinical findings; (3) evidence of neurovascular or skin compromise; and (4) 

a joint in which the pain pattern is unusual or there is an elevated temperature. The last 

criterion requires that a septic joint be ruled out. 

Contraindications to aspiration include the presence of an inhibitor that cannot be controlled 

and local factors, such as an open wound or infected overlying skin. When aspiration is 

performed, it should be done at the time of factor replacement when levels of 50% are 

achieved. A large bore needle, at least 16-gauge, should be used as small clots frequently clog 

smaller needles. Immobilization with a plaster splint or compression dressing helps relieve 

symptoms and may prevent recurrent bleeding. A second infusion of factor, 12 to 24 hours 

after the aspiration, is frequently recommended. 

The importance of physical therapy and the role of the therapist must be stressed. The aim is 

to increase function by maintaining range of motion, increasing muscle strength, and avoiding 

joint deformity. Prophylactic factor replacement may be required if the pain and swelling 

have not completely resolved. If there is any concern, factor replacement should be used prior 

to the first few physical therapy sessions. After a week or two, the exercises are usually 

continued by the patient without factor replacement. These exercises should be done at home 

on a regular basis. The programme of therapy should be individually tailored by the physical 

therapist to the patient's needs and lifestyle. 

The Chronic Swollen Joint (Recurrent Bleeding and Synovitis) 

If joint bleeding is not adequately treated, it tends to recur. The inflamed, swollen synovium 

bleeds more easily than normal synovium and causes further swelling and inflammation. This 

vicious cycle must be broken to prevent the iron within the blood and the enzymes from 

destroying the cartilage, leading to the development of arthritis. 

Synovitis or recurrent bleeding can be differentiated from an acute hemarthrosis in that the 

swelling does not respond to a single infusion of factor. The joint is less painful than with an 

acute hemarthrosis and the range of motion is frequently not limited. It must be remembered 

that cartilage has a limited ability to repair itself. The synovitis may not be painful, but the 

destruction is insidious and cumulative and, therefore, the condition must be treated as 

vigorously as a painful hemarthrosis. 

Prophylaxis, or preventative replacement of the missing clotting factor, for three to six 

months is indicated. The intermittent use of steroids helps reduce the inflammation within the 

joints. A dose of 1 mg/kg/day of Prednisone for one week should be followed by a dose of .5 

mg/kg/day for a second week. If the synovitis is recalcitrant, the course may be repeated in 

three to six weeks. 

4

Aspiration may be useful initially to control the swelling with the joint and should be 

undertaken after prophylaxis has been started but before steroids are used. Immobilization is 

useful at times but must be used in conjunction with physical therapy to prevent atrophy and 

loss of range of motion. 

A lack of response of the recurrent bleeding of synovitis after three to six months of 

prophylaxis and treatment is usually considered an indication for more aggressive 

intervention. Open surgical synovectomy, arthroscopic synovectomy and radioactive 

synovectomy should then be considered. The indications and management of these procedures 

will be considered in a later monograph. 

The Arthritic Joint (Hemophilic Arthropathy) 

Despite early and what seems to be adequate treatment, the progression of bleeding and 

synovitis to arthropathy have not been eliminated. Only prophylactic replacement of the 

missing clotting factor started soon after the first bleeding episode holds promise of doing 

this, but it is not economically or medically feasible in most parts of the world. To minimize 

the consequences of an hemarthrosis which has not responded or cannot be adequately treated 

with factor replacement, short-term immobilization should be considered. This can lead to 

further deformity. Isometric exercises should be started immediately and should quickly 

progress to more vigorous strengthening exercises and range of motion exercises. 

For recalcitrant joints, the temporary use of braces and splints have proven beneficial. A 

prefabricated sports brace can be useful. They usually have a hinge that can be locked and 

opened to allowed progressive motion, especially at the knee. A molded ankle-foot orthosis 

will frequently control pain and bleeding at the ankle. High shoes and orthoses can be 

inexpensive and have been used to minimize foot and ankle problems. Temporary splinting 

may be used to control pain and bleeding at the elbow, but long-term use is not feasible as it 

interferes with function. Again I must stress that physical therapy must be used in conjunction 

with all forms of splinting. 

If a flexion contracture has developed at the knee, cast correction is indicated. Serial casting, 

wedge casting and the use of desubluxation-type hinges have been successful in correcting 

these contractures. Serial casting can be used on an outpatient basis. Wedge casting works 

more quickly but usually requires that the patient be admitted to the hospital. A desubluxation 

hinge is used if there is any evidence of posterior subluxation or if the contracture is greater 

than 45º. Following correction, the patient is kept in a brace until physical therapy has 

strengthened the muscles around the knee, especially the quadriceps. This usually takes three 

to six months. 

5

The Future 

Until now, the role of the orthopedic surgeon in the care of the person with hemophilia has 

been to correct the ravages of bleeding into the joints, muscles and other structures in the 

extremities. It has become obvious that the only way to prevent musculoskeletal problems is 

to correct the hematological defects; these forms of relief will come from the hematologist 

and the geneticist. Until then we must work to maintain the normal function of the hemophilic 

joint and, by utilizing some of the principles outlined in this paper, it is hoped that the 

children throughout the world will be able to keep a “straight” stature. 

6

musculoskeletal complications of hemophilia: the joint

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