Imaging Studies

Hemophilic arthropathy usually presents with joint line narrowing, spurs, subperiosteal new bone formation, and occasionally, bone loss or deformity. A number of classification systems have been developed to rate the severity of the radiographic changes in hemophilic arthropathy. The system published by Arnold and Hilgarter³ has been extensively used in the literature and includes five stages as detailed in Box 78-2 (see Figs. 78-1 through 78-4).

FIGURE 78-1 A and B, Stage II hemophilic arthropathy with overgrowth of the ends of the bones, particularly the radial head. The joint space is maintained.

FIGURE 78-2 A, An example of stage III arthropathy demonstrating subchondral cysts in the distal humerus, the capitellum, and the trochlea. B, The joint spaces are fairly well preserved in the lateral view; however, there is some narrowing of the ulnohumeral joint space and opacification of the synovium (arrow).

FIGURE 78-3 A, Radiographs of the same patient shown in Figure 78-2 taken 5 years later show progressive changes with loss of the joint space narrowing and loss of cartilage (stage IV). B, Again the arrow shows opacification of the synovium.

FIGURE 78-4 A and B, Stage V arthropathy showing marked loss of joint space with extensive enlargement of the epiphysis. Some degree of contracture is evident by the incomplete extension visible on the anteroposterior film.

More recently, the World Federation of Hemophilia has adopted the radiographic scoring and classification system proposed by Peterson et al³² and based on thefollowing eight aspects: osteoporosis, hypertrophy of the endplate, loss of joint space, irregular subchondral surface, subchondral cysts, erosion of the joint surface, incongruity of the joint surfaces, and deformity of the joint. The score ranges from 0 (no radiographic abnormalities) to 13 (severe arthropathy).

Some authors have identified three main patterns of joint involvement.^19,43 Patients with involvement of predominantly the medial side of the joint present with ulnohumeral joint narrowing and medial spurring, which may irritate the ulnar nerve. Involvement of the lateral side of the joint is associated with radial head enlargement, posterolateral elbow pain, and restriction of pronation and supination. Finally, global involvement of the joint is associated usually with more severe stiffness affecting all planes of motion.

As with other inflammatory conditions, magnetic resonance imaging has been used to more precisely evaluate abnormalities of the articular cartilage, soft tissues, and synovium and to monitor the progression of the arthropathy.⁴⁶ Several scoring systems based on magnetic resonance findings have been developed to identify patients at risk for the development of severe arthropathy and to prevent articular changes by the use of more intensive medical treatment.^25,26

Laboratory Studies

The evaluation of patients with hemophilic arthropathy should be completed with coagulation studies and laboratory tests to detect HIV or hepatitis C infections, when indicated.

Medical Management

The treatment of hemophilia requires correction of the coagulation defect by replacement of the deficient factor. Patients with mild hemophilia A or Von Willebrand’s disease may benefit from treatment with desmopressin, which releases factor VIII from endothelial storage sites. At present, recombinant concentrates of factors VIII and IX are the products of choice for factor replacement. The regular administration of replacement therapy with the object of reducing spontaneous bleeding is a logical approach. The goal is to maintain the factor VIII or IX level above 1%. This can be achieved by factor concentrate administration two or three times a week. Some physicians recommend factor replacement for all patients, whereas others favor treating only those patients with frequent bleeding episodes. Starting treatment at a younger age seems to protect against later development of hemophilic arthropathy.¹⁷

Replacement therapy is also the treatment of choice of bleeding episodes. The desired factor level is a function of the severity and location of the bleeding episode. Joint or muscle bleeding episodes are treated to achieve factor levels of 30% to 50%. Replacement therapy is also critical when surgery is considered.¹⁰ Most orthopedic surgery can be managed with initial levels of 80% to 100%, followed in a few days by minimum levels of at least 30%. Joint manipulation under anesthesia requires levels of at least 50%. The number of units required to obtain these titers is calculated based on the body weight and the volume of distribution, which is 1.5 for factor VIII and 1.2 for factor IX. Factor levels should be checked to ensure the effectiveness of the calculated dose. Patients with factor VIII inhibitor require a specific approach; if the inhibitor titer is below 5 BU, recombinant VII factor is administered. If the inhibitor titer is greater than 5 BU, there are three treatment options: porcine factor VIII, factor VIII inhibitor bypassing activity (FEIBA), or recombinant factor VIIa.

Intra-articular injections with steroids may help control some of the inflammatory symptoms of hemophilic arthropathy. Oral steroids may be considered in patients with severe inflammatory symptoms. Physical therapy should also be recommended to preserve elbow flexion and extension as well as forearm pronation and supination. Self-adjustable static elbow splints may be beneficial to improve motion after acute hemarthrosis or in patients with chronic arthropathy.

Acute Hemarthrosis

The treatment of acute hemarthrosis is mostly medical, and includes factor replacement and analgesia. The goal of replacement therapy is to maintain levels of 50% to 100% (or increase the plasma level between 20% and 50%) until the bleeding stops. Prompt replacement therapy is advised at the earliest sign of bleeding, especially in younger patients, in order to prevent joint degeneration. Well-trained patients and families are able to administer their replacement therapy at home without examination by a physician, which might delay treatment.

As mentioned earlier, for patients with mild hemophilia A or type I Von Willebrand disease, intravenous or intranasal desmopressin acetate may help control the bleeding episode. Treatment of acute hemarthrosis with desmopressin should only be considered if a previous trial dose has demonstrated a reasonable rise in the missing factor. Desmopressin doses cannot be repeated more frequently than every 48 to 72 hours to avoid the development of tachyphylaxis.

Tense painful hemarthrosis may be aspirated under factor replacement coverage. The needle is introduced into the joint usually in the soft spot centered between the radial head, the tip of the olecranon, and the lateral epicondyle. Aspiration should not be performed until the clotting factor has been raised to at least 50%. Uncontrolled massive joint bleeding may be controlled through selective angiographic embolization of the affected blood vessels.³⁰ Acute ulnar nerve compression requiring surgical intervention has been reported as a complication of acute elbow hemarthrosis.²⁷

Established Arthropathy

Synovectomy, Radial Head Resection, and Contracture Release

Surgical débridement and synovectomy of the elbow joint is indicated when the hemophilic arthropathy fails to respond to replacement therapy and three synoviorthesis attempts or when limited motion impairs elbow function but the joint may still be salvaged.²⁴ The procedure involves synovectomy, resection of any contracted capsule, removal of osteophytes, recreation of the humeral fossae, and occasionally, radial head resection.

This procedure is most commonly performed through an open lateral approach or arthroscopically. Arthroscopic synovectomy has the potential of decreasing the rate of recurrent hemarthrosis and improving joint function while being associated with lower postoperative morbidity and fewer hospitalizations compared to open surgery (Fig. 78-5).⁴⁵ Several studies have confirmed these findings in the adult as well as the pediatric population.^13,22 In some series, the median bleeding frequency decline approached 85%.¹³

FIGURE 78-5 At present, arthroscopic synovectomy is effective in removing the diseased synovium.

The indications of radial head resection are controversial; it should be considered when radial head deformity and degeneration are believed to interfere with forearm rotation and responsible for lateral-sided elbow pain. Radial head resection may also allow a more complete synovectomy, and probably was one of the reasons for radial head resection before the advent of arthroscopic synovectomy.

There is some published information on the results of joint débridement for hemophilic arthropathy of the elbow. Kay et al²⁴ reported on 12 elbows treated with synovectomy and followed between 1 and 5 years. The average number of bleeding episodes over a 12-month period was decreased from 24 to 3. Five patients lost an average 28 degrees and six improved an average of 11 degrees of motion. Complications occurred in 25% of the cases. Le Balc’h et al²⁸ reported on 23 elbows followed for 18 to 70 months after synovectomy. Patient age ranged from 8 to 25 years of age. Moderate pain persisted in only three, pronation and supination improved in nine, and flexion-extension improved in 14 elbows. Four elbows presented recurrent bleeding. Interestingly, arthroscopic synovectomy has been shown to be cost effective in a small series of 11 patients who required arthroscopy of the ankle (seven cases), elbow (three cases) or knee (one case). In this group of patients, the average cost per month was $7500 before surgery and decreased to $900 after surgery.⁴²

Arthroplasty

Total elbow arthroplasty is considered for patients with severe joint destruction, provided they understand and are willing to comply with postoperative weight restrictions. Ideally, this procedure should be reserved for older patients.

The results of total elbow arthroplasty for hemophilic arthropathy in two separate institutions have been reported recently. Five patients underwent seven elbow arthroplasties at Oxford using several designs, including the Kudo, Souter, and Coonrad-Morrey prostheses.^7,23 There were significant improvements in pain and function at an average follow-up of 2 years. Complications included deep infection requiring resection, ulnar nerve palsy, and axillary vein thrombosis.

Kamineni et al²³ recently reviewed the results of five total elbow arthroplasties performed at the Mayo Clinic for hemophilic arthropathy. The mean age of the patients was 39 years (range, 25 to 58 years). All patients had concurrent HIV infection. At a mean follow-up of 5.8 years (range, 1 to 11 years), one patient developed uncontrollable hemorrhage and was eventually diagnosed with a deep infection requiring implant removal. One additional late hematogenous deep infection could be controlled by joint débridement and polyethylene exchange. At most recent follow-up, pain and motion were improved significantly in all four patients with a surviving implant (Fig. 78-6). Radiographic loosening was evident in one of the four cases.

FIGURE 78-6 Lateral radiograph 18 months after total elbow arthroplasty for hemophilic arthropathy.

Pseudotumors

The treatment of pseudotumors is somewhat controversial and depends on the location and severity of the symptoms. Rapidly growing lesions in the distal part of the skeleton in children usually respond better to nonoperative treatment, whereas slowly growing lesions in the proximal part of the skeleton in adults usually leads to bone erosions and fail to respond to nonoperative treatment.^2,36

Hemophilic pseudotumors are initially treated with intensive replacement therapy during 6 weeks. If the pseudotumor regresses by 25% to 50%, nonoperative treatment may be continued. Otherwise, consideration should be given to percutaneous drainage or surgicalremoval. Small pseudotumors may be drained and injected with fibrin glue.⁶ Surgical resection if larger pseudotumors is associated with good results.³⁶

Vaso-occlusive Crisis

Repeated painful vaso-occlusive crises are the hallmark of sickle cell disease. However, their prevalence is highly variable. In a prospective observational study of 3578 patients, the average rate of painful crises per patient-year was 0.8; however, almost 40% of all patients had no episodes of pain, whereas 5% of the patients accounted for one third of all episodes.³³

The clinical presentation of a vaso-occlusive episode in a bony structure is dominated by an acute onset of deep-seated pain, often described by the patient as “typical sickle cell pain.” Mild erythema and warmth, as well as local tenderness, usually are present, and many patients have a low-grade fever. Pain may vary from mild (i.e., barely interfering with normal lifestyle) to excruciating. The long bones are affected most commonly, but virtually any bony structure may be affected. In a study of 192 children with sickle cell disease, the bones more commonly affected were the humerus (38%), tibia (23%), and femur (19%).

Septic Arthritis and Osteomyelitis

The risk of bacterial infection is increased in children with sickle cell disease due to an early decrease in splenic function, genetic polymorphisms of binding proteins, and human leukocyte antigen (HLA) class II alleles.⁴¹ Areas of infarcted bone or bone marrow are typical sites for infections.⁴ Osteomyelitis is usually due to Salmonella or other gram-negative organisms such as Escherichia coli.⁴ Staphylococcus aureus, the most common cause of osteomyelitis in normal hosts, probably accounts for only one fourth of all cases in sickle cell disease. Septic arthritis is less common than osteomyelitis. The clinical presentation of osteomyelitis and septic arthritis often is similar to a vaso-occlusive crisis, and the exact diagnosis is often difficult to make. In general, infectious episodes are more likely to be associated with fever, longer lasting pain, and decreased range of motion.

Avascular Necrosis and Arthropathy

Joint osteonecrosis is a well-described complication of sickle cell disease.²⁰ The femoral and humeral head are most commonly affected, but the distal humerus may also develop avascular necrosis. It usually presents with elbow pain and stiffness, which usually worsen as secondary degenerative changes ensue. Joint degeneration may also be secondary to microvascular and inflammatory changes in the synovium.³⁵ Finally, inflammatory conditions, such as rheumatoid or gouty arthritis, may coexist with sickle cell disease and contribute to degenerative articular changes.³¹

Imaging Studies

Plain radiographs may show various degrees of bone and joint involvement. Vaso-occlusive episodes may be associated with negative radiographs initially, but increased radiographic density is not uncommon in 1 or 2 weeks. Osteomyelitis may have a similar radiographic appearance. Avascular necrosis is characterized by increased density followed by subchondral fracturing and collapse with secondary degenerative changes. The radiographic appearance of sickle cell arthropathy with or without avascular necrosis may be indistinguishable from other inflammatory arthritis.

Magnetic resonance imaging helps diagnose avascular necrosis in the early stages and may play a role in differentiating osteomyelitis from areas of bone infarction or osteonecrosis.³⁵ Bone scans have also been used to identify infection with variable success.³⁸ Microbiologic studies are needed to confirm the diagnosis of osteomyelitis or septic arthritis and guide treatment based on the results of the cultures and sensitivities. When septic arthritis is suspected, joint aspiration should be performed. The diagnosis of osteomyelitis may require culture of surgical biopsies.

Vaso-occlusive Crises

Treatment of vaso-occlusive crises consists of hydration (100% to 150% of normal daily fluids), warm packs to the affected area, analgesics, and anti-inflammatory medication. Narcotics are usually needed to control the pain associated with vaso-occlusive crises. Patients with HbSS or HbS-beta(0) thalassemia and repeated episodes of vaso-occlusive crises should be considered for therapy with hydroxyurea, which may decrease the frequency of painful episodes in children and adults.⁸ The possible beneficial effects of other drugs such as azatidicine, magnesium pidolate, and clotrimazole derivatives is under investigation.

Septic Arthritis and Osteomyelitis

The treatment of septic arthritis and osteomyelitis is not different from treatment in normal hosts. Septic arthritis is best treated with open or arthroscopic débridement followed by the appropriate antibiotic medication. When open débridement is performed, our preferred approach is the same described for the so-called lateral column procedure, because it requires a relatively small incision and relatively minimal deep soft tissue dissection, preserves the lateral collateral ligament complex, and provides good exposure for débridement. However, arthroscopic débridement is our treatment of choice, although it requires experience with arthroscopic elbow surgery. Postoperatively, antibiotics are usually administered intravenously for a minimum of 6 weeks. Osteomyelitis may also require surgery, especially when extensive or associated with draining fistulas; however, osteomyelitis may respond to antibiotic therapy.

Synovitis, Avascular Necrosis, and Arthropathy

Early synovitis without extensive joint damage may respond to arthroscopic débridement. Avascular necrosis and end-stage arthropathy may require reconstructive surgery. Elbow arthroplasty is the treatment of choice for end-stage disease, provided that the patient understands and is willing to comply with postoperative restrictions to decrease the risk of mechanical failure. Distal humerus hemiarthroplasty is a very attractive option for patients without secondary degenerative changes at the proximal ulna and radius. Other reconstructive options, such as interposition arthroplasty or arthrodesis, are less attractive but may need to be considered in younger patients when higher physical demands are expected.

Surgery in Patients with Sickle Cell Disease

Caution is needed whenever a patient with sickle cell disease needs to undergo anesthesia and surgery. Any surgical procedure may be associated with changes in body temperature, oxygen tension, and pH, which may precipitate hemolysis and vaso-occlusive phenomenons. Care should be taken to maintain optimal oxygenation and pH and to avoid a decrease in either central or peripheral body temperature.