There is a high prevalence of primary biliary cholangitis (PBC) in first-degree relatives1

  • 63% concordance in monozygotic twins3
  • Familial clustering (disease occurring in more family members than would be seen by chance) occurs in PBC4
  • PBC affects all ethnic groups5
    • PBC may be more prevalent in women of Caucasian origin from Northern latitudes5,6

An NIH study of more than 1000 patients with PBC showed significantly higher prevalence in first-degree relatives regardless of concomitant disease.7

Cumulative Prevalence of Autoimmune Diseases in First-degree Relatives of PBC Cases

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Rheumatoid arthritis Autoimmune thyroid diseasea Primary biliary cholangitisa Systemic lupus erythematosus Raynaud syndrome Sjögren’s syndrome Scleroderma Polymyositis
26.0% 14.0% 6.0% 5.0% 3.0% 2.0% 1.0% 1.0%
22.0% 6.0% 1.0% 2.0% 2.0% 0.2% 1.0% 0.0%
Relatives of PBC cases (n=1032)
Relatives of control cases (n=1041)

 Relatives of PBC cases (n=1032)Relatives of control cases (n=1041)

Rheumatoid arthritis 26.0% 22.0%
Autoimmune thyroid disease 14.0% 6.0%
Primary biliary cholangitisa 6.0% 1.0%
Systemic lupus erythermatosus 5.0% 2.0%
Raynaud syndrome 3.0% 2.0%
Sjögren Syndrome 2.0% 0.2%
Scleroderma 1.0% 1.0%
Polymyositis 1.0% 0.0%


References:  1. Poupon R. Primary biliary cirrhosis: a 2010 update. J Hepatol. 2010;52(5):745-758. doi:10.1016/j.jhep.2009.11.027.  2. Lazaridis KN, Juran BD, Boe GM, et al. Increased prevalence of antimitochondrial antibodies in first-degree relatives of patients with primary biliary cirrhosis. Hepatology. 2007;46(3):785-792. doi:10.1002/hep.21749.  3. Selmi C, Mayo MJ, Bach N, et al. Primary biliary cirrhosis in monozygotic and dizygotic twins: genetics, epigenetics, and environment. Gastroenterology. 2004;127(2):485-492. doi:10.1053/S0016-5085(04)00841-8.  4. Abu-Mouch S, Selmi C, Benson GD, et al. Geographic clusters of primary biliary cirrhosis. Clin Dev Immunol. 2003;10(2-4):127-131. doi:10.1080/10446670310001626526.  5. Peters MG, Di Bisceglie AM, Kowdley KV, et al; for PUMPS Group. Differences between Caucasian, African American, and Hispanic patients with primary biliary cirrhosis in the United States. Hepatology. 2007;46(3):769-775. doi:10.1002/hep.21759.  6. Selmi C, Invernizzi P, Zuin M, Podda M, Gershwin ME. Genetics and geoepidemiology of primary biliary cirrhosis: following the footprints to disease etiology. Semin Liver Dis. 2005;25(3):265-280. doi:10.1055/s-2005-916319.  7. Gershwin ME, Selmi C, Worman HJ, et al; USA PBC Epidemiology Group. Risk factors and comorbidities in primary biliary cirrhosis: a controlled interview-based study of 1032 patients. Hepatology. 2005;42(5):1194-1202. doi:10.1002/hep.20907.