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Case report
Severe vitamin deficiencies in pregnancy complicated by progressive familial intrahepatic cholestasis
  1. Amanda Caroline Mahle,
  2. Bernard David Morris,
  3. Zane Frazer and
  4. Christopher Novak
  1. Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
  1. Correspondence to Ms Zane Frazer; zfrazer1{at}jhmi.edu

Abstract

Progressive familial intrahepatic cholestasis (PFIC) is a rare disease of impaired bile acid excretion which can lead to nutritional deficiencies. Vitamin deficiencies during pregnancy can result in adverse maternal and fetal outcomes. A 20-year-old primiparous woman at 30 4/7 weeks with PFIC type 2 presented with worsening cholestasis, coagulopathy and fat-soluble vitamin deficiency. She developed visual deficits and was found to have severe vitamin A deficiency. Her coagulopathy and visual deficits improved following vitamin K and A supplementation, respectively. She delivered at 32 2/7 weeks following preterm labour. This case highlights several unique aspects in the care of pregnant women with liver disease. These patients are at risk for fat-soluble vitamin deficiencies which can result in significant coagulopathy and rarely, visual deficits due to vitamin A deficiency. Prompt treatment is necessary to prevent permanent sequelae.

  • liver disease
  • malnutrition
  • vitamins and supplements
  • pregnancy
  • congenital disorders

https://doi.org/10.1136/bcr-2020-240248

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    Footnotes

    • Contributors All of the authors on this case report were involved in the direct care of the patient discussed. CN was the attending maternal fetal medicine physician; BDM and ACM were chief residents on service over the course of the patient’s admission and ZF was the medical student on service during the patient’s admission. All authors contributed to the write-up of this case.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.