Perinatal Management of Patients at High Risk of Homozygous Protein C Deficiency

Severe congenital protein C deficiency: the use of protein C concentrates (human) as replacement therapy for life-threatening blood-clotting complications

“…In such cases the much more elaborate molecular analysis of the protein C gene may be helpful. This analysis from amniotic fluid or chorion villus biopsy may also be considered in pregnancies with a high risk for homozygous protein C deficiency of the fetus (ie, both parents heterozygous or consanguineous) (Barnes et al 2002). …”

“…The fact that thrombosis occurs so late during pregnancy suggests the possibility of a transplacentar passage of some protein C, which is a rather small protein, from the mother to the fetus. It has further important impact on the management of mothers with a high probability of bearing a child with homozygous protein C deficiency (Manco-Johnson and Nuss 1992; Barnes et al 2002). …”

“…In such a case, prophylactic protein C replacement after elective cesarian section in the 34th gestation week has been suggested, as fetal retinal vein thrombosis usually occurs late in pregnancy (Manco-Johnson et al 1992; Hattenbach et al 1999; Barnes et al 2002). Another theoretical approach may be a prophylactic protein C substitution of the (heterozygous) mother to high normal levels, assuming the possibility of a transplacentar crossing of protein C, but this has never been performed in practice.…”

Long-term Follow-up of Homozygote Protein C Deficiency After Multimodal Therapy

“…1 Further cases have been reported; however, it remains an extremely rare condition presenting with neonatal purpura fulminans, as well as ophthalmologic, neurological, or renal complications due to thrombosis, which often occur in utero. [2][3][4][5][6] The condition is associated with extremely high rates of morbidity and mortality with the optimal treatment being highly complex, poorly understood, and often limited by cost and product supply. 7 We present the case of a boy with homozygous protein C deficiency, successfully treated with a unique sequential multimodal therapy until liver transplantation at 3 years of age.…”

Severe fetal ischaemic brain injury caused by homozygous protein C deficiency

“…Curative liver transplantation has been reported . A pregnancy known to be affected with or at high risk of homozygous PC deficiency may be managed expectantly with an induction of labour at 34 weeks gestation and immediate post‐delivery administration of PC replacement therapy . Mortality is high, and most survivors have neurological deficits irrespective of PC therapy .…”