Working Diagnosis:
Quadriceps hematoma due to a bleeding disorder

Treatment:
As a collegiate athlete there is a recurrent risk of injury, therefore the hematologist recommended FFP prior to games or giving FFP only with injury. There is no good guidance on what to do in these cases as FXI deficiency is rare. Through shared decision making, the decision was made to treat by giving FFP only in case of an injury.

Outcome:
The athlete completed physical therapy with quick resolution of symptoms. He never required FFP. He played in his first game of the season 2 weeks after his formal diagnosis of Factor XI deficiency. One month later, a right lower extremity MR angiogram showed no structural vascular abnormality and a resolution of the hematoma with residual fascial thickening/inflammation.

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Author's Comments:
Factor XI (FXI) deficiency is a rare clotting factor disorder with a prevalence of 1 in 1,000,000. It differs from hemophilia A or B by its autosomal inheritance (recessive) pattern and variable bleeding tendency. Severe FXI deficiency is defined as activity level less than 20%. Patients with this disorder usually have an elevated aPTT in the setting of a normal PT. Clinical symptoms include bleeding provoked by post-injury, epistaxis, and heavy menstrual bleeding. There are no factor products for FXI available in the USA. Instead, this disorder is typically treated with fresh frozen plasma (FFP) prior to procedures or with injury.

Editor's Comments:
Congenital clotting factor deficiencies are rare but lethal blood disorders that are often seen in certain ethnic populations or in communities with increased rates of consanguinity.

As sports medicine/team physicians, it is imperative that we maintain a high index of suspicion for these issues in athletes of certain ethnic backgrounds. If a history of a bleeding disorder is known in an athlete, it is important that a plan is in place in case the athlete ever gets injured.

References:
Jayakrishnan T, Shah D, Mewawalla P. Hemophilia C: a case report with updates on diagnosis and management of a rare bleeding disorder. J Hematol. 2019;8(3):144-147. doi:10.14740/jh522

Lewandowska MD, Connors JM. Factor XI deficiency. Hematol Oncol Clin North Am. 2021;35(6):1157-1169. doi:10.1016/j.hoc.2021.07.012

Mandal S, Gami S, Shah S. A case report on an extremely rare disease: factor XI deficiency. Cureus. 2020;12(10):e10746. doi:10.7759/cureus.10746

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