Abetalipoproteinemia complicating the puerperium

Abstract

Background: Abetalipoproteinemia is a rare, autosomal recessive disease, in which the absence of beta-lipoprotein results in the malabsorption of fat-soluble vitamins. There are few reported complications from abetalipoproteinemia during pregnancy. We present a case of untreated abetalipoproteinemia complicating the puerperium.

Case: A 23-year-old, gravida 3, para 0020 woman presented to an outside facility in labor, and her delivery was complicated by postpartum hemorrhage and a large vulvar hematoma. She was coagulopathic and transferred for suspected disseminated intravascular coagulation. Her preexisting medical history was not appreciated by the transferring facility.

Conclusion: Abetalipoproteinemia in pregnancy is rare. Untreated disease conveys multi-system organ dysfunction and has ramifications in labor and delivery. Clinicians must elicit a comprehensive medical history to properly manage complications in the puerperium.