Emergency Medicine Quiz - RLQ Abdominal Pain Case

Congenital hemophilia A

Educational Objective:

Select the most likely hemophilia in an adult patient presenting with coagulopathy and bleeding into a muscle.

Key Point:

The presence of bleeding since early childhood and bleeding into muscles and joints in combination with a prolonged PTT suggests a congenital disorder of the clotting cascade. Except in certain Ashkenazi Jewish populations, hemophilia A is by far the most common of the congenital clotting cascade disorders.

Explanation:

Congenital clotting factor disorders that prolong the PTT include:

• hemophilia A (factor VIII deficiency – notice alliteration of “8” and “A”, most common disorder),
• hemophilia B (factor IX deficiency, also known as Christmas disease, rare disorder), and
• factor XI deficiency (very rare disorder).

One-third of cases of hemophilia present with no family history due to new mutations.

A succinct review of Hemophilia A medical facts can be found here.

A succinct review of Hemophilia B medical facts can be found here.

References:

Dupré AA. Disorders of Hemostasis. (Chapter 114) In: Walls R, et al. Rosen’s Emergency Medicine: Concepts and Clinical Practice. 9th ed., 2018: 1485-1496.e2)

Hunt BJ. Bleeding and coagulopathies in critical care. N Engl J Med. 2014;370(9):847-59.

Crookston K, et al. Coagulation. Hereditary bleeding disorders Factor VIII Deficiency (Hemophilia A) (Updated September 17,2020) (Accessed July 8, 2021)

Crookston K, et al. Coagulation. Hereditary bleeding disorders Factor IX Deficiency (Hemophilia B)   (Updated September 28,2020) (Accessed July 8, 2021)

Bolton-Maggs, PHB and Pasi KJ, Haemophilias A and B, Lancet. 2003; 361:1801-9.