Dr. Kevin Yip

Dr Kevin Yip
Orthopaedic Surgeon
MBBS(UK), FRCS(EDIN), FAM(SING), FHKCOS(ORTHO)

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Hemophilia

Basics
Description
  • This disorder of clotting factor results in easy bleeding.
  • Secondary effects may occur in any system (most importantly brain, joint, muscle, and nerve) secondary to bleeding.
  • Depending on its severity, it usually is diagnosed in early childhood.
  • Classification:
    • Severe: <1% clotting factor activity
    • Moderate: 1-5% clotting factor activity
    • Mild: >5% clotting factor activity
  • 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.
 
Epidemiology
Incidence
  • The combined incidence of hemophilia is ~1 per 10,000 population.
  • Males are affected much more commonly than are females.
Prevalence
  • 75% of this group have hemophilia A.
  • 12% of this group have hemophilia B.
  • 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.
 
Etiology
  • Hemophilia A: Defect in gene for factor VIII
  • Hemophilia B: Defect in gene for factor IX
Diagnosis
Signs and Symptoms
  • 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.
  • Later problems include repeated episodes of bleeding in a joint or muscle, possibly with only mild trauma.
  • The joints most affected include the knee, ankle, and elbow.
  • Once a joint has sustained a bleeding episode, it is much more likely to be affected again; this is called a target joint.
  • The internal bleeding episodes are noted 1st because of pain, before swelling occurs.
  • 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.
Physical Exam
  • Check all major joints for effusion and ROM.
  • Remember that knees, ankles, shoulders, and elbows are the joints most commonly involved.
  • Note that the presence of an effusion in an ankle is heralded initially by obliteration of the hollow around the malleoli.
  • In examining the knees, document the symmetry of flexion and the presence or absence of the normal hyperextension of 5-10°.
  • Look for apparent enlargement of the joints, secondary to epiphyseal hypertrophy of hyperemia or atrophy of the surrounding muscles.
  • Observe the patient’s gait.
  • Ask the patient to keep a log of joint bleeding to allow detection of a target joint.
  • 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
  • Factor levels should be quantitated in terms of percentage of normal.
    • It takes a surprisingly small percentage of normal factor VIII (as little as 5-10%) to preserve normal clotting function.
  • If factor levels do not rise with replacement as expected, an inhibitor should be suspected.
    • This inhibitor is an antibody to factor VIII and is a relative contraindication to any elective surgery.
  • For all patients with hemophilia, the clinician should be aware of the status of the following:
    • Hepatitis
    • Inhibitor
    • HIV
Pathological Findings
  • On gross examination of a hemophilic joint, the synovium is brown and appears velvety.
  • The joint surface loses its luster and, with advanced disease, becomes eroded in rivet-like tracts.
  • 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
  • Plain radiographs show the following sequence of changes in a hemophilic target joint:
    • 1: Soft-tissue swelling and osteopenia
    • 2: Epiphyseal enlargement, followed by joint space narrowing and irregularity
    • 3: Degenerative arthritis
Differential Diagnosis
  • von Willebrand disease
  • PVNS
  • Transient inhibitor of coagulation
  • Thrombocytopenia
Treatment
General Measures
  • For acute bleeding episodes:
    • Factor replacement
    • Rest and brief immobilization followed by ROM exercises
  • Synovectomy for chronic hemarthropathy
  • Arthroplasty (or occasionally, arthrodesis) for painful end-stage joint disease
  • Factor replacement and observation for psoas bleeding causing femoral neurapraxia
  • For compartment syndrome, decompression as in any other situation
  • Home maintenance programs, which have shown benefit in terms of decreasing joint bleeding and damage:
    • Should be considered if the patient and family are capable of handling it
    • When a hemorrhage does occur, factor should be infused immediately.
    • 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.
Medical Treatment
  • Factor replacement
  • Rest and brief immobilization
  • Factor replacement and observation for a psoas hemorrhage causing femoral neurapraxia
  • Decompression for compartment syndrome
  • 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.
 
Physical Therapy
  • May assist in monitoring ROM in target joints
  • Also indicated after a major bleeding episode or surgery
Medication
First Line
  • Avoid use of NSAIDs for pain because their antiplatelet action may facilitate bleeding.
    • Disalcid and Tylenol are acceptable.
  • 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
  • Synovectomy (removal of hypertrophic synovial lining to decrease bleeding in target joints):
    • May be done through the arthroscope in some joints
    • May even be done nonsurgically, using injected radioisotopes in high-risk or juvenile patients
  • Knee replacement arthroplasty involves replacement of joint surface with metal and plastic articulation to relieve pain.
  • Ankle fusion can be done for end-stage degeneration in this joint.
Follow-up
Prognosis
Life expectancy may be diminished by catastrophic bleeding and infectious diseases.
 
Complications
  • Neurologic: Bleeding into the central nervous system or major peripheral nerves
  • Joints: Stiffness, contracture, and arthritis
  • Compartment syndrome
  • Blood-borne infections
Patient Monitoring
  • 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.
Miscellaneous
Codes
ICD9-CM
958.2 Hemophilia
 
Patient Teaching
  • Stress sports restrictions, especially sports involving contact or twisting.
  • Advise that the school be notified of the patient’s sports restrictions.
  • Encourage substitute pastimes.
  • 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.

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