Hemophilia

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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