First episode of benign recurrent intrahepatic cholestasis type 2 after use of oral contraceptives

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G.P.M. Luiken, S.C.E. Schuit, D. Sprengers, J. Alsma

Voorzitter(s): prof. dr. M.M.E. Schneider, UMCU, Utrecht & dr. L.J.M. de Heide, Zorgroep Noorderbreedt, Leeuwarden

Woensdag 22 april 2015

15:00 - 16:00u in Zaal 0.4

Categorieën: parallelsessie (case reports/research)

Parallel sessie: Parallelsessie 3: Case reports/research

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Introduction:
Cholestasisis a frequently encountered problem. We present a case of cholestasis caused by a first episode of benign recurrent intrahepatic cholestasis type 2 (BRIC2) after use of oral contraceptives (OC).

Case report:
A 16-year-old female presented with jaundice, itching and fatigue. She had been using ethinylestradiol /levonorgestrel for 3 months, and used desloratidin for hay fever. Family history was unremarkable.

Apart from jaundice, physical examination was unremarkable. Laboratory results showed elevated levels of bilirubin (157 µmol/l), conjugated bilirubin (136 µmol/l), aspartate aminotransferase (80 U/l), alanine aminotransferase (116 U/L) and bile acids (60 µmol/l). Other liver function tests were normal. Antibodies against hepatitis viruses, cytomegalovirus and Ebstein-Barr virus, and extensive immunologic testing were negative. Ultrasonography of the liver was normal.

OC is a rare cause of cholestasis, and an underlying genetic disorder was suspected.

Urine coproporphyrines showed a ratio of coprophorphyrin-1 to coprophorphyrin-3 of 60%: 40%,

consistent with Dubin Johnson syndrome(DJS). However, genetic analysis of the ABCC2 gene, the culprit in DJS, revealed no mutations. A novel heterozygous mutation in the ABCB11-gene (c.1308+1 G>A) was found, consistent with a structural abnormality in the bile salt export pump, as seen in BRIC2. This particular mutation has never been described before. The course of this disease is benign, the risk of recurrent cholestasis during oral contraceptive use or pregnancy is high.

Conclusion:
We present a patient with jaundice during use of OC due to a first episode of BRIC2 caused by a novel mutation in the ABCB11-gene.