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.
FH: 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
READING RESOURCES
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
· Chapter 14: Cancer in Children, including Summary Review
· Chapter 20: Alterations of Neurologic Function in Children (stop at Childhood tumors); Summary Review
· Chapter 34: Alterations of Cardiovascular Function in Children (stop at Defects decreasing pulmonary blood flow); Summary Review
· Chapter 37: Alterations of Pulmonary Function in Children (stop at Congenital malformations); Summary Review
· Chapter 40: Alterations of Renal and Urinary Tract Function in Children, including Summary Review
· Chapter 43: Alterations of Digestive Function in Children, including Summary Review
· Chapter 46: Alterations of Musculoskeletal Function in Children (stop at Avascular diseases); (start at Cerebral palsy) (musculoskeletal tumors in children); Summary Review
· Chapter 48: Alterations of the Integument in Children, including Summary Review
· Chapter 50: Shock, Multiple Organ Dysfunction Syndrome, and Burns in Children, including Summary Review
U.S. National Library of Medicine. (2019). Normal growth and development. Retrieved from https://medlineplus.gov/ency/article/002456.htm
