title: Characteristics of primary biliary cirrhosis in British Columbia's First Nations population.
abstract: Primary biliary cirrhosis (PBC) is a rare, autoimmune liver disorder characterized by progressive destruction of intrahepatic bile ducts, that results in portal inflammation, scarring, cirrhosis and, eventually, liver failure. Although considered rare in Canadian populations, it is the leading indication for referral for liver transplantation in British Columbia's First Nations population. Previously, an expanded review of all cases referred to the British Columbia Transplant Society for PBC was carried out comparing the demographics of those of First Nations descent with those not of First Nations descent. The review suggested that the rate of referral for transplantation was eight times higher for those of First Nations descent compared with those of other descent (P=0.0001), and a disproportionate number of the First Nations cases lived on Vancouver Island (48% of cases versus 18% expected, P<0.05). Additionally, the age of referral was significantly younger (45.9 versus 54.3 years) for those of First Nations descent and there are fewer First Nations men referred (1:34) than expected. For the purpose of the present report, 28 symptomatic cases were ascertained separately and reviewed in a clinical study to delineate the features of this population.
  
  
  RESULTS
  Although available liver biopsy reports were consistent with PBC, not all cases were antimitochondrial antibody-positive (18% negative). There was a family history of PBC confirmed by medical records in 33% of cases. There were five multiplex families identified, one with seven affected individuals. Detailed family histories revealed a recurrence risk of 4% for PBC for all first-degree relatives older than 21 years of age, but 10% when considering only women. Other autoimmune conditions coexisted in PBC patients in 79% of all cases. Arthritis was most frequent (60%), with thyroid disease (16%) and systemic lupus erythematosus (12%) also present. Additionally, a history of autoimmune diseases (arthritis, systemic lupus erythematosus and thyroid disease) was present in 21% of first-degree relatives. A strong genetic predisposition to PBC and other autoimmune diseases, combined with common environmental factors, is postulated in this population. Further study is underway to identify these factors.
authors.affiliation: Department of Genetics, University of British Columbia, 4500 Oak Street, Vancouver, BC, Canada V6H 3N1. larbour@cw.bc.ca
authors.forename: Laura
authors.initials: L
authors.lastname: Arbour
authors.forename: Rosemarie
authors.initials: R
authors.lastname: Rupps
authors.forename: Leigh
authors.initials: L
authors.lastname: Field
authors.forename: Paul
authors.initials: P
authors.lastname: Ross
authors.forename: Anders
authors.initials: A
authors.lastname: Erikson
authors.forename: Harvey
authors.initials: H
authors.lastname: Henderson
authors.forename: Warren
authors.initials: W
authors.lastname: Hill
authors.forename: Eric
authors.initials: E
authors.lastname: Yoshida
mesh_terms: D000328:Adult; D001327:Autoimmune Diseases / Q000208:ethnology; D001955:British Columbia / Q000453:epidemiology; D015897:Comorbidity; D020022:Genetic Predisposition to Disease; D006801:Humans; D007198:Indians, North American; D008105:Liver Cirrhosis, Biliary / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics; D016031:Liver Transplantation; D008875:Middle Aged; D010375:Pedigree; D012017:Referral and Consultation / Q000706:statistics & numerical data