Abstract Title

Bleeding diathesis in a patient with a novel mutation in SERPINF2: A case study of alpha-2 antiplasmin deficiency

Presenter Name

Elissa Dunlap

RAD Assignment Number

1826

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Abstract

Background: Alpha-2 antiplasmin is a serine protease inhibitor that inactivates plasmin and prevents premature breakdown of fibrin clots. Deficiency of this enzyme can lead to spontaneous bleeding and hemophilia-like symptoms, despite normal coagulation and platelet function studies. We present a case of congenital alpha-2 antiplasmin deficiency to emphasize the importance of recognizing a patient with bleeding symptoms despite normal coagulation assays and to report a novel SERPINF2 gene mutation as a cause of this disorder.

Case Information: A 7-month-old patient presented with a hemarthrosis of the right knee that was assumed to be septic arthritis, despite negative cultures of the bloody synovial fluid. She experienced significant bruising and spontaneous hematomas, necessitating a hematologic consultation. Complete blood count (CBC), Von Willebrand Factor (VWF) activity and antigen, prothrombin time (PT), partial thromboplastin time (PTT), thrombin time, platelet function analysis, and fibrinogen levels were all normal. At 3 years of age, she had a second suspected hemarthrosis of the right knee, prompting the following tests: plasminogen activator inhibitor-1 levels, euglobulin lysis time, factor XIII activity and platelet aggregation studies. All tests showed normal results. In addition, she had two episodes of hemorrhage after a tooth extraction, both instances required red blood cell and fresh frozen plasma transfusions. Whole exome sequencing revealed a novel homozygous mutation in the SERPINF2 gene. Alpha-2 antiplasmin activity was then measured atA), has not been previously reported in patients with alpha-2 antiplasmin deficiency. Family history was positive for consanguinity. These findings suggest that this mutation has likely been present in several generations of this patient’s family and follows the pattern of an autosomal recessive disorder.

Conclusions: This case highlights the difficulties in diagnosing bleeding disorders that involve the fibrinolytic pathway. The previously unreported pathogenic mutation of the SERPINF2 gene may provide valuable insight into the molecular mechanisms of alpha-2 antiplasmin deficiency.

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Bleeding diathesis in a patient with a novel mutation in SERPINF2: A case study of alpha-2 antiplasmin deficiency

Background: Alpha-2 antiplasmin is a serine protease inhibitor that inactivates plasmin and prevents premature breakdown of fibrin clots. Deficiency of this enzyme can lead to spontaneous bleeding and hemophilia-like symptoms, despite normal coagulation and platelet function studies. We present a case of congenital alpha-2 antiplasmin deficiency to emphasize the importance of recognizing a patient with bleeding symptoms despite normal coagulation assays and to report a novel SERPINF2 gene mutation as a cause of this disorder.

Case Information: A 7-month-old patient presented with a hemarthrosis of the right knee that was assumed to be septic arthritis, despite negative cultures of the bloody synovial fluid. She experienced significant bruising and spontaneous hematomas, necessitating a hematologic consultation. Complete blood count (CBC), Von Willebrand Factor (VWF) activity and antigen, prothrombin time (PT), partial thromboplastin time (PTT), thrombin time, platelet function analysis, and fibrinogen levels were all normal. At 3 years of age, she had a second suspected hemarthrosis of the right knee, prompting the following tests: plasminogen activator inhibitor-1 levels, euglobulin lysis time, factor XIII activity and platelet aggregation studies. All tests showed normal results. In addition, she had two episodes of hemorrhage after a tooth extraction, both instances required red blood cell and fresh frozen plasma transfusions. Whole exome sequencing revealed a novel homozygous mutation in the SERPINF2 gene. Alpha-2 antiplasmin activity was then measured atA), has not been previously reported in patients with alpha-2 antiplasmin deficiency. Family history was positive for consanguinity. These findings suggest that this mutation has likely been present in several generations of this patient’s family and follows the pattern of an autosomal recessive disorder.

Conclusions: This case highlights the difficulties in diagnosing bleeding disorders that involve the fibrinolytic pathway. The previously unreported pathogenic mutation of the SERPINF2 gene may provide valuable insight into the molecular mechanisms of alpha-2 antiplasmin deficiency.