Differential Diagnosis for a Child with Low Factor 8

• Single Most Likely Diagnosis
  • Hemophilia A: This is the most common cause of low factor 8 levels in children, an X-linked recessive disorder that leads to deficiency of factor VIII, a crucial protein in the blood clotting process.
• Other Likely Diagnoses
  • Von Willebrand Disease: Although this condition primarily affects von Willebrand factor, it can also lead to a decrease in factor VIII levels due to the close relationship between von Willebrand factor and factor VIII in the clotting cascade.
  • Acquired Hemophilia A: A rare condition where the body's immune system produces antibodies against factor VIII, leading to its deficiency. This can occur in children, though it's more common in adults.
  • Liver Disease: Certain liver conditions can affect the production of clotting factors, including factor VIII, though this would typically be accompanied by other signs of liver dysfunction.
• Do Not Miss Diagnoses
  • Disseminated Intravascular Coagulation (DIC): A serious disorder in which the proteins responsible for blood clotting become overactive, leading to the formation of small blood clots in various blood vessels throughout the body. This condition can consume clotting factors, including factor VIII, and is life-threatening if not promptly treated.
  • Vitamin K Deficiency: Essential for the production of several clotting factors, vitamin K deficiency can lead to a decrease in factor VIII levels among others. This is particularly concerning in newborns or in cases of malabsorption.
• Rare Diagnoses
  • Factor VIII Inhibitors due to Other Conditions: Certain conditions, such as lymphoproliferative disorders or drug-induced, can lead to the production of inhibitors against factor VIII, mimicking acquired hemophilia A.
  • Congenital Factor VIII Deficiency not due to Hemophilia A: There are rare cases where factor VIII deficiency is not caused by hemophilia A, such as in combined factor V and VIII deficiency, which is due to a defect in the lectin mannose binding 1 (LMAN1) or multiple coagulation factor deficiency (MCFD2) genes.