Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch

Robert Holz; Andreas E Kremer; Dieter Lütjohann; Hermann E Wasmuth; Frank Lammert; Marcin Krawczyk

doi:10.1002/hep4.1144

Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch

Hepatol Commun. 2018 Jan 10;2(2):152-154. doi: 10.1002/hep4.1144. eCollection 2018 Feb.

Authors

Robert Holz¹, Andreas E Kremer², Dieter Lütjohann³, Hermann E Wasmuth⁴, Frank Lammert¹, Marcin Krawczyk^{1

5}

Affiliations

¹ Department of Medicine II, Saarland University Medical Center Saarland University Homburg Germany.
² Department of Medicine I Friedrich-Alexander-University Erlangen-Nürnberg Erlangen Germany.
³ Institute for Clinical Chemistry and Clinical Pharmacology University of Bonn Bonn Germany.
⁴ Medizinische Klinik, Luisenhospital Aachen Aachen Germany.
⁵ Laboratory of Metabolic Liver Diseases, Center for Preclinical Research Medical University of Warsaw Warsaw Poland.

Abstract

Benign recurrent intrahepatic cholestasis (BRIC) is a peculiar familial disease caused by mutations of the genes encoding hepatocanalicular flippase for phosphatidylserine (ATP8B1; BRIC type 1) or the bile salt export pump (ABCB11; BRIC type 2). Here, we report on a patient with nasobiliary drainage-refractory BRIC type 2 who improved under plasma separation and anion absorption therapy. We also suggest that nasobiliary drainage might be an ineffective approach in carriers of severe loss-of-function mutations of the bile salt export pump ABCB11. (Hepatology Communications 2018;2:152-154).