Summerskill-tygstrup syndrome K83.1

Rare, autosomal recessive inherited disorder caused by a mutation in the FIC1 gene (chromosome 18)

FIC1 encodes a protein that is probably an ATPase that transports amniophospholipids across membranes. BRIC1 is allelic to PFIC1 and is caused by mutations in the ATP8B1 gene (18q21). ATP8B1 encodes a P-type ATPase that is expressed on the channel membrane of hepatocytes and in other epithelia. BRIC2 is allelic to PFIC2 and is caused by mutations in the ABCB11 gene (2q24) (Sohn MJ et al. 2019). The ABCB11 gene codes for the liver-specific bile salt export pump (BSEP). The disease-causing mutations in BRIC are generally missense mutations.

children or young adults (mostly before the 3rd year, 80% before the 20th year)

Intermittent intrahepatic occlusive jaundice in children and young adults with pruritic jaundice of the sclera and mucous membranes, in more severe cases also skin jaundice. In addition, fatigue, loss of appetite, nausea, itching and sensitivity to pressure in the right upper abdomen are observed. Episodes with symptom-free intervals of months to years.

Transaminasen↑↑↑. Increase in alkaline phosphatase and direct Bilirubins↑↑↑ (cholestasis parameter); gamma-GT. mostly normal.

Cholestasis without changes Hepatocytes, usually only minor portal infiltrations

BRIC may be associated with hepatitis E, nephrolithiasis, diabetes or pancreatitis (Choudhury A et al 2017).

In cases of severe cholestastic symptoms, symptom relief can be achieved by endoscopic nasobiliary drainage Choudhury A et al (2017).

The forecast is relatively good. Rare is the development of cirrhosis of the liver.

1. Choudhury A et al (2017) Endoscopic nasobiliary drainage: an effective treatment option for benign recurrent intrahepatic cholestasis (BRIC). BMJ Case Rep pii: bcr-2016-218874.
2. Son MJ et al (2019) Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations.Pediatric Gastroenterol Hepatol Nutr 22:201-206.
3. Walensi M et al (012) Long-term therapy of a patient with summerskill-walshe-tygstrup syndrome by applying prometheus® liver dialysis: a case report. Case Rep Gastroenterol 6:550-556.
4. Zimmer V et al (2017) Benign recurrent intrahepatic cholestasis (BRIC)-like episode associated withATP8B1 variation underlying protracted cholestatic course of acute hepatitis E virus infection. Dig Liver Dis 50:206-207.