Abnormal fibrinolysis recognized by thromboelastography in a case of severe bleeding with normal coagulation and platelet function, leads to detection of a novel SERPINF2 variant causing severe alpha‐2‐antiplasmin deficiency
Abstract
A 15-year-old male presented to the orthopaedic clinic for evaluation of a chronic right thigh mass. A malignancy was considered but a bleeding disorder needed to be ruled out. The medical history revealed a significant bleeding history first presenting following circumcision at 10 days of life, requiring red blood cell transfusion. Over the years, prolonged bleeding from lacerations (sometimes for days) and following tooth eruption was noted as well as poor wound healing. He had one episode of haematuria but no history of umbilical cord bleeding, epistaxis, joint bleeds, intracranial haemorrhage or significant bruising. At 10 years of age he experienced trauma to his right thigh while riding a bicycle. This resulted in significant thigh swelling, treated with immobilization. The swelling decreased after a few months and he commenced activities. However, swelling in the right thigh region recurred on and off over the next 5 years. Several magnetic resonance imaging (MRI) scans in different hospitals did not lead to a clear diagnosis. Upon referral to our institution, the patient was walking with a limp and was unable to sit on hard surfaces secondary to severe pain: MRI revealed a right thigh mass measuring 10 9 9 9 21 cm, with an approximate volume of 1–2 l (Fig 1A,B). The family history revealed parental consanguinity (first cousins). Neither his parents nor his one sibling had any excessive bleeding symptoms. The patient showed no dysmorphic features; head and neck,…
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