Mild Congenital Factor V11 FV11 Deficiency Presenting with Recurrent Minor TraumaRelated Bleeding in a Toddler A Rare Case Report and Mini Review

Background: Congenital factor VII (FVII) deficiency is a rare, inherited, coagulation disorder, which is due to decreased levels or dysfunction of factor VII, a major component of the extrinsic coagulation pathway. It is estimated that it is one in every three to five lakh people. Clinical manifestations are wide, with either asymptomatic laboratory abnormalities or life-threatening bleeding manifestations. Mild forms of the disorder frequently remain unnoticed in early childhood, as symptoms can be limited to frequent bruising or to mucosal bleeding. It is essential to identify it early to ensure appropriate management and to avoid bleeding complications in trauma or surgical procedures. Case Presentation: A 2-year-old male patient who was the first child born in the first generation of same-sex twins to nonconsanguineous parents reported constant contusions and hematomas on the forehead after minor trauma during playing at home. The child also experienced multiple sporadic cases of epistaxis and two cases of excessive bleeding after minor foot injuries during the process of play with barefoot. No family or major systemic illness history, or bleeding disorder history. Lab analysis showed normal clotting time, bleeding time and platelet count. Factor assays revealed a mildly deficient activity of 53 IU/dL and 48 IU/dL levels of factor VII, but the rest of the coagulation factors, such as factors V, VIII, IX, and XII, were normal. These results were in line with non-progressive isolated congenital factor VII deficiency. Management and Outcome: The child was treated in a conservative way with parental counselling on how to avoid trauma and education about early identification of bleeding episodes. Minor bleeding episodes were recommended to receive supportive measures such as local pressure and recognition of antifibrinolytic therapy. The family was advised of the necessity of hemostatic assistance, preferably recombinant activated factor VII, before a surgical or invasive operation. The follow-up of the child showed that she was stable clinically, and her great bleeding was not observed. Discussion: The congenital factor VII deficiency shows a significant variation in phenotype, and there is no clear relationship between the severity of bleeding and the level of factor in the blood. Mild deficiency may present with mucocutaneous haemorrhage, including nasal bleed, easy bruising or sustained haemorrhage following minor trauma. Diagnosis should have a high index of suspicion and confirmation through coagulation factor assays. Management is individualised depending on bleeding severity, with recombinant activated factor VII considered the therapy of choice for significant bleeding. Conclusion: This case underscores the significance of considering mild congenital factor VII deficiency in children presenting with recurrent bruising and mucosal bleeding despite otherwise normal haematological parameters. Early recognition and appropriate counseling can help prevent bleeding complications and ensure safe management during surgical procedures. Keywords: Factor VII deficiency; rare bleeding disorder; congenital coagulation disorder; epistaxis; mild bleeding.