Cholestasis, Benign Recurrent Intrahepatic, 1

Alternative Names

  • BRIC1
  • Summerskill Syndrome
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WHO-ICD-10 version:2010

Diseases of the digestive system

Disorders of gallbladder, biliary tract and pancreas

OMIM Number

243300

Mode of Inheritance

Autosomal recessive

Gene Map Locus

18q21.31

Description

Cholestasis, Benign Recurrent Intrahepatic, 1 (BRIC1) is characterized by intermittent episodes of cholestasis that can last from weeks to months.  During this period, affected individuals suffer from elevated levels of serum bile acids, cholestatic jaundice and pruritis.  Patients may also suffer from hepatomegaly, pancreatitis, conjugated hyperbilirubinemia, steatorrhea, malaise, irritability, nausea and vomiting.  Unlike the allelic disorder Cholestasis, Progressive Familial Intrahepatic, 1 (PFIC1), BRIC1 does not progress to end stage liver disease.  The period between episodes can last from weeks to years during which patients are symptom-free and exhibit no clinical or biochemical evidence of cholestasis.  The factors that trigger these episodes are not yet known.

The disease has a variable onset ranging from infancy to adulthood. The prognosis of the disorder also varies; while some patients have a mild and infrequent presentation, others may worsen over time, eventually developing PFIC1.  Diagnosis is made based on clinical findings, serum biochemistry, liver histology and genetic analysis.  Standard pharmacological treatments such as rifampicin and cholestyramine help provide temporary relief against pruritis and may induce remission of cholestasis in some cases.  Nutritional therapy and supplementation of fat-soluble vitamins may also be beneficial.  Other treatment options include nasobiliary drainage and extracorporeal liver support therapy such as MARS (Molecular Adsorbents Recirculation System).  Surgical options include ileal exclusion, partial internal biliary diversion, and external diversion with a button device.  However, in rare cases, patients with frequent severe episodes may require an orthotopic liver transplantation. 

Molecular Genetics

BRIC1 follows an autosomal recessive pattern of inheritance and is caused by mutations in the ATP8B1 gene.  This gene encodes a phospholipid translocase involved in the maintenance of lipid homeostasis and bile acid transport.  Homozygous and compound heterozygous mutations in ATP8B1 are associated with BRIC1.  Variants linked with BRIC1 are generally missense mutations that result in a moderate alteration in the structure or function of the ATP8B1 gene.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
243300.1.1United Arab EmiratesYesNM_001374385.1:c.379C>GHomozygousAutosomal, RecessiveAl-Shamsi et al. 2016
243300.1.2United Arab EmiratesYesNM_001374385.1:c.379C>GHomozygousAutosomal, RecessiveAl-Shamsi et al. 2016 Sibling of 243300.1....
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