Hemophilic arthropathy refers to the changes in joints caused by recurrent bleeding into joint due to a bleeding disorder called hemophilia.
Hemophilia is a genetic disorder characterized by abnormality of the coagulation mechanism due to functional deficiency of a specific blood factor, namely VIII or IX.
The estimated incidence is between 0.8-1 per 10,000 male births.
There are various types of hemophilia
- Hemophilia A
- Congenital deficiency of factor VIII or antihemophilic factor or antihemophilic globulin.
- Constitutes 80 percent of cases
- X linked
- Manifests in the males
- Females are asymptomatic female carriers
- Hemophilia B
- Deficiency of factor IX (plasma thromboplastin component or Christmas factor)
- 15% of the cases
- X-linked recessive gene.
- Von Willebrand’s Disease
- Both factor VIII deficiency and platelet functional abnormality
- Autosomal dominant trait
- Occurs males and females
- Relatively mild disorder
Hemophilia is characterized by repeated episodes of bleeding. The severity varies from patient to patient and depends on levels of the deficient factor.
- Plasma factor level 25-50% of normal
- Excessive bleeding occurs only after major trauma or during surgery.
- Plasma factor level – 5-25 percent of normal
- Minor injury or an operative procedure results in excessive bleeding
- Moderately Severe
- Plasma factor level- 1 to 5 percent of normal
- Severe bleeding occurs after a minor injury
- Very Severe
- Plasma levels of factor <1%
- Repeated spontaneous bleedings into joints and doft tissue bleeding
Pathophysiology of Hemophilic Arthropathy
Joints are the most frequent sites of repeated bleeding followed by muscles and soft tissues.
The weight-bearing joints are most commonly affected.
Different joints that are involved are given below in order of decreasing frequency
The vertebral column is rarely involved.
Following injury, the synovial vessels rupture, and blood accumulates in the joint. Bleeding continues until the intraarticular hydrostatic pressure exceeds that of the arterial and capillary pressure in the synovium. This causes ischemia of the synovium and subchondral bone.
With repeated hemorrhage, hyperplasia and fibrosis of the synovium ensue.
Pannus [thickened synovial tissue] formation erodes the hyaline cartilage peripherally which leads to loss of joint motion and contractural deformity occurs.
Subchondral bone cysts are formed due to local ischemia.
An attempt to repair may lead to asymmetrical growth, resulting in valgus or varus deformity.
Early closure of physis may lead to limb shortening.
Osteoporosis and muscle atrophy are common.
The final phase of hemophilic arthropathy is fibrous ankylosis.
Clinical features of hemophilic arthropathy depend on the severity of hemorrhage and whether the bleeding in the joint is acute, subacute, or chronic.
- Acute pain and swelling of the joint
- Capsule distention due to bleeding causes severe pain
- Joint is seen in position of minimum discomfort
- For example knee is in flexion
- Hip is kept in 30 to 65 degrees of flexion, 15 degrees of abduction, and 15 degrees of lateral rotation.
- Develops after several episodes of bleeding into the joint
- Pain is minimal
- The synovium is thickened and boggy
- Restriction of joint motion is moderate.
- Develops after months of initial bleeding
- Progressive destruction of the joint occurs
- Leads to a fibrotic, stiff, totally destroyed joint.
General findings on X-ray are
- Joint effusion[when hemarthrosis is present]
- Osteoporosis around the joints [due to increased blood circulation or hyperemia]: from hyperemia
- Enlargement of the epiphyses [due to hyperemia]
- Degenerative changes [secondary degenerative disease]
- Symmetrical loss of joint cartilage involving all compartments
- Periarticular erosions
- Subchondral cysts
Specific findings in different joints
- widened intercondylar notch
- Squared inferior margin of the patella
- Bulbous femoral condyles with flattened surfaces
- Radial head enlargement
- Trochlear notch widening
- Talar tilt due to the undergrowth of the lateral side of the tibial epiphysis
MRI is good for early detection of the disease.
It shows thickened synovium, joint effusion, cartilage loss, and erosions.
A bone scan is sensitive for detecting the scope of skeletal involvement. They can be used to monitor treatment response
Classification of Hemophilic arthropathy
The classification is based on radiographs.
- Stage I
- Soft-tissue swelling
- No bony abnormalities.
- Stage II
- Overgrowth and osteoporosis of the epiphysis
- joint integrity is maintained, no narrowing
- No bone cysts
- Parallels the clinical stage of subacute hemophilic arthropathy.
- Stage III
- Minimal to moderate joint space narrowing
- Subchondral cysts
- Joint specifc changes
- Knee – widening of the intercondylar notch of the knee, squaring of patella
- Widening of the trochlear notch of the ulna.
- Articular cartilage is still preserved and hemophilic arthropathy is still reversible.
- Stage IV
- Destruction of articular cartilage
- Severe narrowing of the joint space
- More pronounced bony changes
- Stage V
- Total loss of joint space
- Fibrous ankylosis of the joint
- Marked incongruity of the joint structures
- Severe irregular hypertrophy of the epiphysis.
Treatment of Hemophilic Arthropathy
The main concern in hemophilic arthropathy is spontaneous bleeding. The aim of the treatment is to prevent bleeding by replacement of deficient factor with a concentrate of the clotting factors obtained from fresh frozen plasma. The factors given are
- For Factor VIII deficiency (hemophilia A and von Willebrand’s disease)
- Factor VIII and fibrinogen
- For factor IX deficiency (hemophilia B)
- High level of factor IX and low levels of factors, II, VII, and X.
Different severity of injuries require different target raise of plasma factor levels
- Joints, muscles, and soft tissue- 30 percent of normal.
- Severe hemarthrosis- 40 percent of normal.
Administration of the factor is continued for three to seven days following cessation of bleeding.
Inhibitors of factor VIII and IX develop with repeated replacements, necessitating the subsequent higher dosage.
Radioisotopes can be injected therapeutically into a joint to decrease bleeding and synovitis
The affected joint is temporarily immobilized in a position of rest and minimum intraarticular pressure.
Compression helps to create tamponade and reduce further bleeding but distal circulation should be carefully watched.
Under no circumstances should a circular plaster cast be used to avoid circulation compromise.
The limb should be elevated and cold compresses are applied [RICE Therapy]
Analgesics or sedatives are best avoided.
NSAIDs are contraindicated due to an inhibitory effect on platelets.
Repeated use of opioid drugs in addiction can be a problem with repetitive use. However, in case of need opioid drugs may be given but they should be used conservatively.
The joint should be aspirated and decompressed if there is severe hemarthrosis with marked distention of the joint capsule.
Aspiration of the joint should be performed under strict aseptic conditions. After the aspiration, the compression dressing and posterior splint are reapplied.
After cessation of bleeding, physical therapy to mobilize the joint is initiated. This involves
- Isometric muscle exercises
- Gentle active-assisted range of motion exercises.
The treatment depends on whether the arthropathy is acute or chronic.
Prolonged immobilization of the affected joint should be avoided, as this results in marked muscle atrophy and restriction of joint motion.
Chronic condition results after repeated acute hemophilic arthropathy. This condition is preventable in most cases by effective and immediate treatment of acute hemarthrosis.
In the management of chronic hemophilic arthropathy, physical therapy, traction, orthoses, traction, and surgery play an important role. Treatment needs to be individualized. The objective is to correct joint deformity and to restore function.
Chronic Hemophilic Arthropathy
- Relieves muscle spasm
- Increases range of motion.
- Plaster Cast
- A wedging cast applied when functional range of motion is not achieved after 2-3 weeks of traction
- Removed when full joint motion is achieved [7-10 days]
- Maintained in splint
If deformities caused by hemarthrosis cannot be corrected by conservative closed methods, surgical correction is indicated.
The factor level should be raised to 100 percent by infusion of factor concentrate in perioperative period.
Synovectomy is done to prevent progression of hemophilic arthropathy. It helps by
- Decreases the vulnerability to the trauma
- Hemophilic synovial tissue has a high level of fibrinolytic activity [Prolongs the bleeding].
- Hemosiderin deposition in the synovium interferes with the production of collagenases, which may cause the death of chondrocytes.
Synovectomy is indicated in
- Severe recurrent hemarthrosis- 2-3 major bleeding episodes
- Failure to respond to medical management for a period of at least six months.
- Radiographic Stage II or Stage III hemophilic arthropathy
In stages IV and V, synovectomy is not effective and contraindicated.
Total Joint Replacement
Total joint replacement in bilateral knees is indicated with Stage IV or Stage V arthropathy when persistent knee pain is present.
Total hip replacement is indicated in Stage IV or Stage V hemophilic arthropathy when pain is persistent with a severe disability not relieved by conservative measures. Arthroplasty of the elbow has been reported.
Arthrodesis of the ankle, subtalar and midtarsal joints in the foot, shoulder, or knee may be indicated when these joints are destroyed.