Pregnancy complicated by refractory severe hypercholanaemia from sodium taurocholate co‐transporting polypeptide deficiency

Abstract

Sodium taurocholate co‐transporting polypeptide deficiency is a rare metabolic autosomal recessive condition resulting in critically elevated plasma bile acid levels. Hypercholanaemia in similar conditions such as intrahepatic cholestasis of pregnancy has been associated with an increased risk of adverse obstetric outcomes including stillbirth. We present the first case of Sodium taurocholate co‐transporting polypeptide deficiency in a current pregnancy in a patient with one previous stillbirth in the context of severe hypercholanaemia, where conventional treatments for cholestasis including ursodeoxycholic acid, rifampicin and cholestyramine were ineffective. Therapeutic plasma exchange and novel treatment with elobixibat were trialed with mixed results. The pregnancy resulted in an iatrogenic preterm delivery of a live infant at 32 weeks gestation.

A Recent Ten-Year Perspective: Bile Acid Metabolism and Signaling

“…The definite phenotype of this deviation has not been described; itching and signs of cholestasis, and other symptoms of liver damage are not typical [ 145 ]. This defect may be partially compensated by the function of organic anion-transporting polypeptide 1B1/1B3, but may have other effects in concomitant diseases, such as the cholestasis of pregnancy [ 145 , 146 ].…”

“…The effect of this defect on various diseases has not yet been studied. Plasmapheresis and the use of the ABST antagonist elobixibate are possible measures to reduce the level of bile acids in the blood, however, they need to be studied further [ 146 ].…”