CHAPTER 71
Hemophilia
Introduction/Etiology/Epidemiology
• Hemophilia encompasses a variety of genetically determined coagulation factor deficiencies, although family history is not always present (Table 71-1).
• Hemophilia results in prolonged bleeding, often after minimal or no trauma.
• Newborns and infants usually present with excessive bleeding after circumcision or hematomas after vaccinations.
• Toddlers present with excessive thick bruises with round, indurated centers, and with large intramuscular hematomas from minor falls or trauma.
• Factor levels determine clinical presentation and guide therapy and activity recommendations.
• Factor levels less than 1% can present with spontaneous hemarthrosis or hematoma.
• Factor levels between 1% and 5% of normal can lead to bleeding with relatively minor trauma.
• Factor levels between 5% and 40% of normal produce only a small risk of hemorrhage with daily activities.
Signs and Symptoms
• Hemarthrosis
— Most common in the elbow, knee, and ankle joints
— Acute symptoms are pain, swelling, and stiffness caused by a distended joint capsule.
Table 71-1. Etiology and Inheritance Patterns of Common Hemophilia Subtypes
| Subtype | Etiology | Inheritance Pattern |
|---|---|---|
| Hemophilia A (“Classic hemophilia”) | Factor VIII deficiency | X-linked recessive 70% positive family history |
| Hemophilia B (“Christmas disease”) | Factor IX deficiency | X-linked recessive |
| Hemophilia C | Factor XI deficiency | Autosomal recessive |
| von Willebrand disease (most common bleeding disorder) | von Willebrand protein deficiency or dysfunction | Autosomal dominant Spontaneous hemarthrosis occurs rarely and is usually asymptomatic |
— Examination reveals a distended joint with limited passive and active range of motion and often tense, shiny overlying skin.
• Intramuscular hematomas
— Present as thick, round, indurated bruises with tense, shiny overlying skin
— Can lead to a compartment syndrome, characterized by severe pain that is out of proportion to the apparent trauma or other physical findings
■Severe pain with gentle passive range of motion is typically the clinical hallmark of compartment syndrome. Since these changes can evolve rapidly, it is important to re-examine patients frequently over time.
■In children, the presence of the 3 As (increasing anxiety, agitation, and analgesia) is an indication for an emergent orthopaedic evaluation.
Differential Diagnosis
• Acute hemarthrosis
— Septic arthritis
— Intra-articular injury
• Intramuscular hemorrhage
— Pyomyositis
— Intramuscular abscess
— Muscle tear
— Tendon rupture
Diagnostic Considerations
• The patient with hemophilia presenting with acute pain typically has an acute bleed, either into a joint (hemarthrosis) or into a muscle (hematoma).
• Evaluate carefully for any signs of infection, which is typically secondary from having seeded the underlying hemarthrosis/hematoma with bacteria. Failure to identify infection in this setting can result in disastrous consequences.
• Radiographs (at least 3 views of the affected joint) should be obtained in any case of joint effusion or in uncertain presentations to rule out intra-articular fracture, ligament tear, loose bodies, or osteochondral lesions.
• Repeated intra-articular hemorrhage can lead to characteristic radiographic joint changes (Table 71-2).
•
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