High Molecular Weight Kininogen Deficiency

• Summary of Laboratory Results: Patient's aPTT was prolonged, PT was normal. A (1:1) mixing study for aPTT was performed which showed correction. Assays were performed for the factors in the intrinsic pathways (VIII, IX, XII, XI, Prekalikrein, and HMWK) to find the specific factor deficiency. HMWK level was found to be low. Other factors were within normal range.
  
  
• Diagnosis: HMWK deficiency
  
  
• Recommendation/ Comments: This disorder is not associated with any bleeding problems. No treatment is needed.