Background: Congenital factor VII deficiency is an autosomal recessive rare bleeding disorder, affecting 1 in every 500,000 people. It has never been reported to be combined with VACTERL association.

Aims: Case report of a newborn with congenital factor VII deficiency and congenital malformations consistent with VACTERL association.

Methods: The authors present a case report and a literature review of the topic.

Results: A preterm male neonate is delivered at 35 weeks of gestation, non-consanguineous parents, an antenatal diagnosis of severe polyhydramnios and duodenal atresia. At birth, with low weight, anterior anus and hypospadias. He was scheduled for surgical correction for duodenal atresia and anorectal malformation, coagulation tests revealed prolonged prothrombin time, he received two doses of vitamin K with persistence of prolongation. Studies confirmed moderate factor VII deficiency. He received activated recombinant factor VII (rFVIIa) (30 mcg/kg) from the preoperative period, continuing every 4 hours for 48 hours. There were no bleeding complications in the postoperative care or during follow-up care. In genetics consult evaluation, VACTERL association was confirmed.

Conclusions: Factor VII deficiency is a rare bleeding disorder, with clinical heterogeneity and different degrees of severity, requiring high clinical suspicion as well as adequate interpretation of coagulation tests. The evidence for rFVIIa in newborns with congenital FVII deficiency is very limited, therefore, the most important predictive tool is family and personal history of bleeding. Prophylaxis with recombinant factor VII is not commonly used and it should only be considered in patients at high risk of bleeding or severe bleeding. No other case reports or associations were found between clotting factor deficiencies, such as factor VII deficiency and congenital malformations like VACTERL association.

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/congenital-factor-vii-deficiency-and-vacterl-association-an-unusual-combination/