Editors: Frassica, Frank J.; Sponseller, Paul D.; Wilckens, John H.
Title: 5-Minute Orthopaedic Consult, 2nd Edition
Copyright ©2007 Lippincott Williams & Wilkins
> Table of Contents > Hemophilia
Hemophilia
Paul D. Sponseller MD
BasicsDescription
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This disorder of clotting factor results in easy bleeding.
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Secondary effects may occur in any system (most importantly brain, joint, muscle, and nerve) secondary to bleeding (1).
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Depending on its severity, it usually is diagnosed in early childhood.
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Classification (1–3):
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Severe: <1% clotting factor activity
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Moderate: 1–5% clotting factor activity
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Mild: >5% clotting factor activity
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Synonyms: Hemophilia A (Classic Hemophilia [factor VIII deficiency]); Hemophilia B (Christmas Disease [factor IX deficiency])
General Prevention
Prevent the development of “target joints” by a home maintenance program and by observing activity restrictions (1).
Epidemiology
Incidence
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The combined incidence of hemophilia is ~1 per 10,000 population (1).
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Males are affected much more commonly than are females.
Prevalence
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75% of this group have hemophilia A (4).
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12% of this group have hemophilia B (4).
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The rest have rare deficiencies in other coagulation factors.
Risk Factors
Positive family history
Genetics
Hemophilia A and B are both inherited as sex-linked
recessive disorders, leading to the typical picture of multiple
affected males on the maternal side of a family.
recessive disorders, leading to the typical picture of multiple
affected males on the maternal side of a family.
Etiology
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Hemophilia A: Defect in gene for factor VIII
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Hemophilia B: Defect in gene for factor IX
DiagnosisSigns and Symptoms
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In patients with severe hemophilia,
failure to clot after circumcision, immunizations, or lip lacerations
sustained in falls often brings the diagnosis to light. -
In persons affected more mildly, major cuts or surgery may be required to show the defect.
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Later problems include repeated episodes of bleeding in a joint or muscle, possibly with only mild trauma.
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The joints most affected include the knee, ankle, and elbow.
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Once a joint has sustained a bleeding episode, it is much more likely to be affected again; this is called a “target joint.”
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The internal bleeding episodes are noted 1st because of pain, before swelling occurs.
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Muscle bleeding is noted because of
swelling and nerve compression, most commonly affecting the psoas
muscle and the femoral nerve. -
Repeated bleeding episodes eventually cause degenerative change, with stiffness and pain in a target joint over several years (2).
Physical Exam
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Check all major joints for effusion and ROM.
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Remember that knees, ankles, shoulders, and elbows are the joints most commonly involved.
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Note that the presence of an effusion in an ankle is heralded initially by obliteration of the “hollow” around the malleoli.
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In examining the knees, document the symmetry of flexion and the presence or absence of the normal hyperextension of 5–10°.
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Look for apparent enlargement of the
joints, secondary to epiphyseal hypertrophy of hyperemia or atrophy of
the surrounding muscles. -
Observe the patient’s gait.
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Ask the patient to keep a log of joint bleeding to allow detection of a target joint.
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Look for any neurologic sequelae of
bleeding, such as hemiparesis from a previous intracranial hemorrhage
or neuropathy from a femoral or sciatic hemorrhage.
Tests
Lab
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Factor levels should be quantitated in terms of percentage of normal.
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It takes a surprisingly small percentage of normal factor VIII (as little as 5–10%) to preserve normal clotting function.
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If factor levels do not rise with replacement as expected, an inhibitor should be suspected (1,3).
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This inhibitor is an antibody to factor VIII and is a relative contraindication to any elective surgery.
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For all patients with hemophilia, the clinician should be aware of the status of the following:
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Hepatitis
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Inhibitor
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HIV
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Pathological Findings
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On gross examination of a hemophilic joint, the synovium is brown and appears velvety.
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The joint surface loses its luster and, with advanced disease, becomes eroded in rivet-like tracts.
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On light microscopy, the synovial lining
of the joint is hypertrophic and hypervascular; the hypervascularity
renders it more likely to bleed with additional trauma. -
Eventually, the synovium becomes fibrotic, thus accounting for the loss of motion.
Imaging
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Plain radiographs show the following sequence of changes in a hemophilic target joint (2):
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1: Soft-tissue swelling and osteopenia
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2: Epiphyseal enlargement, followed by joint space narrowing and irregularity
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3: Degenerative arthritis
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Differential Diagnosis
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von Willebrand disease
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PVNS
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Transient inhibitor of coagulation
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Thrombocytopenia
P.175
TreatmentGeneral Measures
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For acute bleeding episodes:
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Factor replacement
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Rest and brief immobilization followed by ROM exercises
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Synovectomy for chronic hemarthropathy (1,5)
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Arthroplasty (or occasionally, arthrodesis) for painful end-stage joint disease (6,7)
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Factor replacement and observation for psoas bleeding causing femoral neurapraxia
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For compartment syndrome, decompression as in any other situation
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Home maintenance programs, which have shown benefit in terms of decreasing joint bleeding and damage:
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Should be considered if the patient and family are capable of handling it
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When a hemorrhage does occur, factor should be infused immediately.
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If a large joint effusion develops,
aspiration and irrigation should be considered, once adequate factor
replacement has been achieved. -
Rest and compression also should be recommended.
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Medical Treatment
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Factor replacement
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Rest and brief immobilization
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Factor replacement and observation for a psoas hemorrhage causing femoral neurapraxia
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Decompression for compartment syndrome
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Discouragement of the use of salicylates and other NSAIDs, except acetaminophen
Special Therapy
Radiotherapy
Synovectomy of target joints may be accomplished by
injection of a radionuclide, which may decrease the frequency of
bleeding episodes (5).
injection of a radionuclide, which may decrease the frequency of
bleeding episodes (5).
Physical Therapy
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May assist in monitoring ROM in target joints
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Also indicated after a major bleeding episode or surgery
Medication
First Line
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Avoid use of NSAIDs for pain because their antiplatelet action may facilitate bleeding.
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Disalcid and Tylenol are acceptable.
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When aspirating a hemarthrosis,
instilling bupivacaine with epinephrine as well as corticosteroid may
help to arrest the risk of rebleed and the joint inflammatory response.
Surgery
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Synovectomy (removal of hypertrophic synovial lining to decrease bleeding in target joints):
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May be done through the arthroscope in some joints
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May even be done nonsurgically, using injected radioisotopes in high-risk or juvenile patients
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Knee replacement arthroplasty involves replacement of joint surface with metal and plastic articulation to relieve pain.
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Ankle fusion can be done for end-stage degeneration in this joint.
Follow-upPrognosis
Life expectancy may be diminished by catastrophic bleeding and infectious diseases.
Complications
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Neurologic: Bleeding into the central nervous system or major peripheral nerves
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Joints: Stiffness, contracture, and arthritis
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Compartment syndrome
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Blood-borne infections
Patient Monitoring
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Ideally, patients should be followed in a
multidisciplinary fashion by specialists in hematology, orthopaedics or
physical therapy, and dentistry. -
Social work may be helpful in obtaining needed services and medical coverage.
References
1. Luck JV, Jr, Silva M, Rodriguez-Merchan EC, et al. Hemophilic arthropathy. J Am Acad Orthop Surg 2004;12:234–245.
2. Arnold WD, Hilgartner MW. Hemophilic arthropathy. Current concepts of pathogenesis and management. J Bone Joint Surg 1977;59A: 287–305.
3. Hvid I, Rodriguez-Merchan EC. Orthopaedic surgery in haemophilic patients with inhibitors: an overview. Haemophilia 2002;8:288–291.
4. Cornwall R, Dormans JP. Diseases of the hematopoietic system. In: Morrissy RT, Weinstein SL, eds. Lovell and Winter’s Pediatric Orthopaedics, 6th ed. Philadelphia: Lippincott Williams & Wilkins, 2006:357–404.
5. Siegel HJ, Luck JV, Jr, Siegel ME. Advances in radionuclide therapeutics in orthopaedics. J Am Acad Orthop Surg 2004;12:55–64.
6. Goddard NJ, Rodriguez-Merchan EC, Wiedel JD. Total knee replacement in haemophilia. Haemophilia 2002;8:382–386.
7. Kamineni
S, Adams RA, O’Driscoll SW, et al. Hemophilic arthropathy of the elbow
treated by total elbow replacement. A case series. J Bone Joint Surg 2004;86A:584–589.
S, Adams RA, O’Driscoll SW, et al. Hemophilic arthropathy of the elbow
treated by total elbow replacement. A case series. J Bone Joint Surg 2004;86A:584–589.
MiscellaneousCodes
ICD9-CM
958.2 Hemophilia
Patient Teaching
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Stress sports restrictions, especially sports involving contact or twisting.
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Advise that the school be notified of the patient’s sports restrictions.
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Encourage substitute pastimes.
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Offer genetic counseling early at diagnosis.
Prevention
Consider a home maintenance program.
FAQ
Q: What is the role of synovectomy in arresting the progression to arthritis?
A:
Synovectomy may decrease the frequency of bleeding episodes and slow
the progression toward arthritis, but it does not totally arrest the
process.
Synovectomy may decrease the frequency of bleeding episodes and slow
the progression toward arthritis, but it does not totally arrest the
process.