Etymed
hemophilia
Definition
A genetic disorder characterized by the inability of blood to clot properly due to a deficiency in clotting factors
Clinical context
A 16-year-old male presents to the emergency department with severe joint swelling and pain after a minor fall. His brother has a similar history of excessive bleeding following minor injuries. Physical examination reveals hemarthrosis with no signs of trauma. Laboratory studies show normal platelet count but prolonged partial thromboplastin time. What is the most likely diagnosis? What is the underlying pathophysiology of this condition?
Mnemonic
Hemophilia: Heroes Have Inherited Illnesses - Hemophilia is a hereditary bleeding disorder with 'heroic' clotting factor deficiencies, particularly factor VIII (hemophilia A) and factor IX (hemophilia B).