Developmental Haemostasis for Factor V and Factor VIII Levels in Neonates: A Case Report of Spontaneous Cephalhaematoma

Abstract

Combined factor V and VIII deficiency is a rare bleeding disorder. Diagnosis of congenital coagulation factor deficiency in a neonate is challenging due to "immaturity" of the hemostatic system. A 2-day-old baby girl presented with spontaneous cephalhematoma. She was found to have persistent abnormal coagulation tests and finally diagnosed as combined factor V and VIII deficiency. Interestingly, factor V and factor VIII in developmental hemostasis are quite similar with adult levels in newborn, and hence early diagnosis is possible. An investigation to detect underlying hemostatic defects is recommended in newborns with spontaneous cephalhematoma.

Guideline for the diagnosis and management of the rare coagulation disorders

“…F5F8D very rarely presents with bleeding in neonates (Abdullah et al , ). FV and FVIII activities in healthy term neonates are 0·36–1·08 and 0·61–1·39 iu/ml, respectively, with FV activity increasing further within 1 week (Andrew et al , ).…”

Combined Deficiency of Coagulation Factors V and VIII: An Update

“…Although most F5F8D diagnosis occurred in children and adults, a successful diagnosis of F5F8D was reported in a 2-day-old infant with spontaneous cephalhematoma. 11 The 9-year-old sibling of the proband had been symptom free since birth, despite laboratory findings of F5F8D, 11 highlighting the variability of bleeding symptoms and possibly contributing to the underdiagnosis of this disorder. FV deficiency (parahemophilia) combined with type 1 von Willebrand disease can also present with decreases in FV and FVIII levels, due to the indirect effect of von Willebrand factor deficiency on FVIII stability.…”