A neonatal presentation of factor V deficiency: A case report

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.

Use of pharmacokinetic modelling to individualize FFP dosing in factor V deficiency

“…Results of the PK modelling for FV activity in FFP (Table ) revealed a peak plasma concentration (Cmax) of 16% (IU dL −1 ), a plasma clearance (CL) of 0.05 ml kg −1 h −1 and an apparent half‐life (t½) of 13.5 h for off‐set in FV activity, a value consistent with ranges previously reported in the literature .…”

“…Ideally, for assessing the kinetics of all coagulation products, sampling should be performed at frequent intervals, and extended over a period of at least 2–2.5 times the half‐life (t½) of the factor under study . Half‐life values for FV, reported in the literature, range from 12 to 36 h . Given the interpatient variability of the t½ of other coagulation factors (FVIII and VIX), it is recommended that the t½ of the factor in question be determined in the individual clinical scenario .…”

Factor V Deficiency Associated with Congenital Cardiac Disorder and Intracranial Hemorrage

“…In most patients bleeding symptoms first developed during the Fig. 1 CAT scan of the patient showing subdural hematoma first 6 years of life [11,12]. A case of severe factor V deficiency associated with multiple episodes of intracranial bleeding which presented at birth was reported.…”

Factor V deficiency: a concise review

“…Most patients are only treated episodically for bleeding and before invasive procedures [16]. However, case reports are available of severely affected patients presenting early in life who require routine prophylactic FFP infusions [21,24,29]. For procedures and acute haemorrhage, the goal of therapy is to maintain FV levels above 20%.…”

“…None of the patients in the North American Registry, including those with FV activity <1%, required prophylaxis [16], and the Iranian cohort appeared to have a more benign course than patients with haemophilia A and B with comparable factor activity levels [11]. The most severe cases appear to be patients who present in the perinatal period with intracranial haemorrhage [21,23,24]. Owren’s index case, Mary, died in 2002 at the age of 88 years [3].…”