P0857 - Benign Recurrent Intrahepatic Cholestasis Type 2 Presenting With Worse Outcome During Pregnancy

Saatchi Kuwelker, MD¹, Allison Harrington, MD¹, Eric Lorio, MD², Juan Guerrero, MD^3
1UT Health San Antonio, San Antonio, TX; ²Tulane University School of Medicine, San Antonio, TX; ³University of Texas Health Science Center at San Antonio, San Antonio, TX

Introduction: Benign recurrent intrahepatic cholestasis (BRIC) is a part of a spectrum of familial intrahepatic cholestatic disorders (FIC) characterized by recurrent episodes of cholestasis, jaundice, and pruritus. BRIC type 2 is associated with an ABCB11 mutation that leads to elevations in alkaline phosphatase (ALP) and bilirubin with notable normalization of these levels between episodes. ABCB11 mutation is also associated with progressive familial cholestasis type II (PFIC2), a more severe form of FIC. BRIC in pregnancy has been poorly described. Here we report a case of a 30-year-old woman with BRIC 2 who presented with worsening liver function during two pregnancies necessitating preterm deliveries.

Case Description/Methods: A 30-year-old pregnant female with a history of BRIC type 2 presented for 1.5 months of worsening fatigue, pruritus, and jaundice. This mirrored a presentation 5 years prior, at which time she underwent preterm delivery at 28 weeks due to fetal distress in the setting of presumed intrahepatic cholestasis of pregnancy (ICP). After her first pregnancy, she presented twice more for cholestasis and was eventually diagnosed with BRIC type 2 based on her relapsing, remitting medical course, and a noted heterozygous ABCB11 mutation.

She was lost to follow-up for 2 years and this admission presented at 13 weeks gestation with fatigue and pruritus. Abnormal liver function tests (LFTs) (Table 1) were noted, and she was managed with ursodiol and rifampin prior to discharge. She was readmitted at 27 weeks gestation with recurrent symptoms and a cholestatic enzyme pattern before treatment with ursodiol, fat-soluble vitamins, and steroids, which had previously resolved her symptoms at the time of initial BRIC diagnosis. She reported mild symptom improvement but no decrease in LFTs. At 34 weeks, she returned in labor with fetal distress and worsening LFTs. She was taken for emergent delivery, and her liver enzymes improved modestly post-partum.

Discussion: There are no specific guidelines outlining the management of familial cholestasis in pregnancy. Guidelines for management of ICP recommend consideration of preterm delivery or termination of pregnancy with worsening liver function. As seen in our patient, BRIC type 2 may similarly cause worsening cholestasis, though it typically presents earlier in pregnancy than ICP. Therefore, pregnancy in BRIC 2 patients should warrant more aggressive management and closer follow-up, as pregnancy may serve as a catalyst for progression of BRIC2 to PFIC2.


Figure: Figure 1: Liver biopsy with arrows above showing feathery degeneration, a phenomenon occurring in periportal hepatocytes due to the detergent-like action of bile acids in intrahepatic cholestasis. Arrowheads demarcate bile deposition in the setting of bile stasis.

Weeks of gestation	13 weeks	27 weeks	34 weeks	Post Partum
Alkaline phosphatase (Units/L)	316	428	544	361
Aspartate transaminase (Units/L)	45	159	193	145
Alanine transaminase (Units/L)	35	70	136	128
Total bilirubin (mg/dl)	13.8	12.2	11.4	6.7
Direct bilirubin (mg/dl)	10.5	9.8	Not obtained	5.5
INR	1.2	4.4	2.2	1.4

Table: Table 1. Progression of liver function tests during pregnancy in a patient with BRIC 2


Disclosures:
Saatchi Kuwelker indicated no relevant financial relationships.
Allison Harrington indicated no relevant financial relationships.
Eric Lorio indicated no relevant financial relationships.
Juan Guerrero indicated no relevant financial relationships.


Saatchi Kuwelker, MD¹, Allison Harrington, MD¹, Eric Lorio, MD², Juan Guerrero, MD³. P0857 - Benign Recurrent Intrahepatic Cholestasis Type 2 Presenting With Worse Outcome During Pregnancy, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.