[An uncommon cause of hematemesis in children: factor XI deficiency]

Area of Science:

• Hematology
• Genetics
• Pediatrics

Background:

• Congenital factor XI deficiency (hemophilia C) is a rare inherited bleeding disorder.
• It is notably prevalent in the Ashkenazi Jewish population.
• Bleeding tendencies can range from mild to absent, often triggered by surgery or trauma.

Observation:

• A 5.5-year-old girl presented with acute abdominal pain, vomiting, and hematemesis.
• Initial biological tests revealed a significantly prolonged activated partial thromboplastin time (aPTT) of 113 seconds.
• The prolonged aPTT was attributed to a constitutional factor XI deficiency, with measured levels at 2.7%.

Findings:

• The patient's condition showed spontaneous clinical improvement.
• Severe factor XI deficiency was confirmed as the underlying cause of the bleeding symptoms.
• The case demonstrates a favorable natural progression despite severe deficiency.

Implications:

• This case underscores the variable clinical presentation of factor XI deficiency.
• It highlights the importance of considering rare bleeding disorders in pediatric gastrointestinal bleeding.
• Early diagnosis and monitoring are crucial for managing congenital factor XI deficiency.