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Recurrent Early Onset Severe Obstetric Cholestasis in a Patient With Two Variants in the ABCB4 Gene: A Case Report
1Speciality Registrar in Gastroenterology, Worthing Hospital University Hospital Sussex NHS Foundation Trust, Sussex, England
2Consultant in Gastroenterology and Hepatology, Worthing HospitalnUniversity Hospital Sussex NHS Foundation Trust, Sussex, England
Hepatology Forum 2023; 4(3): 142-144 DOI: 10.14744/hf.2023.2023.0008 PMCID: PMC10564254
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A 36-year-old patient presented with severe early-onset obstetric cholestasis on a background of having pre-term induction of labor at 33 weeks during her only previous pregnancy. The patient had significantly abnormal liver biochemistry with a bilirubin of 78 µmol/L, ALP of 318 u/L, ALT of 280 µmol/L, and bile acid levels of 420 µmol/L. The patient received ursode-oxycholic acid 750 mg 3 times a day, rifampicin 500 mg twice a day, aspirin 150 mg once a day, and metformin 500 mg 3 times a day. However, despite this, the patient still suffered from intractable pruritus and her bile acid level was still above the 100 µmol/L target that the obstetrics team was aiming for to avoid early delivery at 32 weeks. Due to the nature and severity of her cholestasis, the patient had a number of investigations done postnatally in-cluding genetic analysis, which confirmed that the patient was heterozygous for a pathogenic variant of the ATP-binding cassette subfamily B member 4 gene (c.959C>T [p.Ser320Phe]) and also a variant of unknown significance (c.1679C>T [p.Thr560Met]).