Case
A 25-year-old soldier currently serving in the Uganda People’s Defense
Force (UPDF) was referred for consultation to the hematology clinic due
to abnormal bleeding. One month earlier, he bled excessively after an
elective circumcision uneventfully performed by freehand. Bleeding
started 12 hours after surgery and lasted for two weeks. To manage the
bleeding, he was admitted to hospital, his wound explored, and an
incisional hematoma evacuated. During hospitalization, he received
intravenous tranexamic acid and vitamin K, plus intravenous antibiotics.
His vital signs remained normal throughout.
In the hematology clinic, the patient reported no history of painful
joint swelling, abnormal bruising, or bleeding and he had completed
rigorous military training without any problems. Additionally, none of
his family members including his mother, seven full siblings with 4
brothers, several maternal cousins, and three maternal uncles had
experienced abnormal bleeding, bruising, or joint deformity.
He was of normal stature, weighed 69.8kg; a height of 183.6 cm and a
normal body mass index (BMI) of 20.7m2. He had no
joint swellings, tenderness or deformity and no skin or mucous membrane
bruising. His circumcision wound was dry and clean.
Laboratory evaluation included haemoglobin of 14.8 g/dL; platelet count
257,000/µL; activated partial thromboplastin time (aPTT) 58 seconds
(reference range 27–43 seconds); prothrombin time (PT) 13.9 seconds
(reference range 11.5–15.5 seconds); and INR 1.25. Given his elevated
aPTT, a mixing study with normal plasma was done which demonstrated
correction of aPTT into the normal range (30 seconds). Subsequent factor
VIII activity assay was < 1% and factor IX assay 104%.
Similar results were obtained on repeat testing after one week in
another laboratory. He was enrolled in the hemophilia clinic, from where
he will receive on-demand treatment with factor VIII if he bleeds. He is
back in the military barracks and his superiors have been apprised of
his diagnosis and its implications.