Hemarthrosis revealing congenital factor XI deficiency

Area of Science:

• Hematology
• Genetics
• Orthopedics

Background:

• Congenital factor XI deficiency (Rosenthal syndrome/hemophilia C) is an inherited bleeding disorder.
• It commonly presents with mild bleeding post-trauma or surgery.

Observation:

• A 32-year-old patient experienced a 2-year history of knee pain and swelling.
• Knee aspiration revealed blood-tinged fluid, prompting further investigation.

Findings:

• The patient was diagnosed with severe factor XI deficiency.
• Treatment with fresh frozen plasma proved effective.
• Factor XI deficiency was also identified in the patient's sister.

Implications:

• Bilateral knee hemarthrosis can be the primary manifestation of congenital factor XI deficiency.
• This case underscores the importance of considering bleeding disorders in patients with unexplained joint bleeding.
• Early diagnosis and appropriate management are crucial for patients with factor XI deficiency.