Scenario 3: Hemophilia
8-month infant is brought into the office due to a swollen right knee and excessive bruising. The parents have noticed bruising about a month ago but
thought the
bruising was due to the attempts to crawl. They became concerned when the baby woke up with a swollen knee. Infant up to date on all immunizations, has
not
had any medical problems since birth and has met all developmental milestones.
H: negative for any history of bleeding disorders or other major genetic diseases
PE: within normal limits except for obvious bruising on the extremities and right knee. Knee is swollen but no warmth appreciated. Range of motion of knee
limited due to the swelling.
DIAGNOSIS: hemophilia A.
Question
What is the pathophysiology of Hemophilia