Abstract
BackgroundFactor V deficiency is a rare autosomal recessive coagulation disorder. Awareness of presenting features and management is important to avoid bleeding complications associated with mortality and neurodisability.Case presentationA 6-day-old Pakistani boy was admitted with bleeding from the left nipple. His parents were first cousins. A coagulation screen showed a prothrombin time of 41 s (control 14 s), a partial thromboplastin time of 132 s (control 33 s) and a normal thrombin time of 15 s (control 14 s). Factor V activity was <0.01 IU/ml. Oral tranexamic acid was started. At 5 weeks of age the child presented with irritability, lethargy and reduced feeding and a drop of hemoglobin to 5.6 g/dl. A cranial computed tomography scan showed a right intra-cerebral bleed extending from the frontal lobe to the parieto-occipital region with shift of the midline to the left. A regime of 20 ml/kg of fresh frozen plasma four times a week was instituted and has prevented further bleeds up to the present age of 21 months. Neurodevelopment remained normal.ConclusionThis case illustrates that in an unusually bleeding newborn of consanguineous parents rare severe homozygous bleeding disorders need to be considered. Nipple bleeding may be the first presentation of a congenital bleeding disorder. In cases of factor V deficiency where factor concentrates are not available long term use of fresh frozen plasma can prevent potentially life threatening bleeding.
Highlights
Factor V deficiency is a rare autosomal recessive coagulation disorder
We present to our knowledge the first case of nipple bleeding as the initial hemorrhagic manifestation of factor V deficiency in the neonatal period
Our report describes the 6th case of homozygous severe factor V deficiency presenting as bleeding in the early neonatal period reported in the English literature
Summary
Our report describes the 6th case of homozygous severe factor V deficiency presenting as bleeding in the early neonatal period reported in the English literature. Mild hemorrhagic manifestations of coagulation disorders in infants reported previously included umbilical stump bleeding, subcutaneous hematomas, epistaxis and gum bleeding [9]. This case illustrates that in an unusually bleeding newborn of consanguineous parents rare severe homozygous bleeding disorders need to be considered. Regular infusions at least every 48 hours are required in patients with a history of severe bleeding complications Despite such a regime it is difficult to achieve a factor V level >0.3 IU/ml without encountering problems of fluid overload because of the fact that FFP is not a concentrated treatment. Detection of the causative mutation is important as it facilitates genetic counselling of the parents and prenatal diagnosis in future pregnancies
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