Clinical features

Spontaneous bleeding or delayed-onset bleeding (joints, muscular and soft tissue, mucosa) in response to different degrees of trauma

• Repeated hemarthrosis (e.g., knee joint) → hemophilic arthropathy (i.e., destruction of the joint due to repeated hemarthrosis)

  • Typically develops by early adulthood

  • Most commonly involves the knees, ankles, and elbows

• Recurrent bruising or hematoma formation

• Oral mucosa bleeding, epistaxis, excessive bleeding following small procedures (e.g., dentist procedures)

• Hemophilia C does not typically manifest with spontaneous bleeding, hemarthrosis, or deep tissue bleeding.

• CNS (e.g., headache, neck stiffness)

• Gastrointestinal tract (e.g., melena, hematemesis)

• Genitourinary system (e.g., hematuria)

• Female carriers may show mild symptoms.

• The degree of bleeding and, therefore, severity of hemophilia depends on residual factor activity levels; normal reference activity is > 50%

Hemarthrosis of the knee

The left knee is grossly enlarged with purple-brown discoloration. There is also an oblique scar spanning lateral to medial, likely due to previous knee replacement surgery.

These findings are consistent with a periprosthetic hemarthrosis.

Hemarthrosis in hemophilia

MRI knee (T2-weighted; left: coronal plane; right: sagittal plane)

A large joint effusion with suprapatellar extension is accompanied by high signal intensity representing hemorrhage (black arrows) and intermediate-to-low signal intensity representing synovial thickening (white arrow).

Hemarthrosis is a common occurrence in patients with severe hemophilia.