Severe vitamin deficiencies in pregnancy complicated by progressive familial intrahepatic cholestasis

Amanda Caroline Mahle, Bernard David Morris, Zane Frazer, Christopher Novak

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Article numbere240248
JournalBMJ case reports
Issue number3
StatePublished - Mar 10 2021


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

ASJC Scopus subject areas

  • Medicine(all)


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