Severe factor V deficiency presenting with intracranial haemorrhage during gestation

Abstract

We present a case of intracranial haemorrhage detected by ultrasound at 36 weeks gestation in a foetus who was ultimately diagnosed with severe factor V deficiency. An abnormality of the foetal heart rate, auscultated at a routine antenatal visit, prompted an investigation that led to an ultrasound examination and detection of an intracranial haemorrhage and low amniotic fluid volume. An intrauterine foetal demise was averted. The clinical scenario in this case raises the issue of how often a stillbirth with intracranial haemorrhage may result from unrecognized factor deficiency.

Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms

“…Homozygous and compound heterozygous persons have FV levels lower than 10% and present with a lifelong hemorrhagic diathesis whose severity is poorly correlated with the plasma FV level. 21 Although a few cases of neonatal intracranial hemorrhage have been reported, [22][23][24] many patients with undetectable FV experience only mild to moderate bleeding 21 and do not require routine prophylaxis. The reason for the relatively mild clinical presentation of many FV-deficient patients is presently unknown.…”

Congenital Factor V Deficiency: Moroccans Cases

“…Intracranial or gastrointestinal tract hemorrhages are rare (6%) and are limited to patients with undetectable FV; they occur mainly in the perinatal period [3,8].…”

Evaluating for Suspected Child Abuse: Conditions That Predispose to Bleeding

“…66 Intrauterine subdural hematomas have been reported, as have spontaneous intraparenchymal hemorrhages. 72,73 Fiftypercent of heterozygous patients also had bleeding. Skin and mucous membrane bleeding were the most common manifestations, and none experienced ICH.…”