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News

Importance of genetics in primary sclerosing cholangitis

First-degree relatives of patients with primary sclerosing cholangitis have a 100-fold increased risk of developing primary sclerosing cholangitis compared with the general population, finds February's issue of Journal of Hepatology.

News image

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Dr Bergquist, Dr Lindberg, Dr Saarinen, and Dr Broomé undertook a study in order to investigate the familial occurrence of autoimmune diseases in a large group of patients with primary sclerosing cholangitis (PSC).

The research team included a total of 145 patients with PSC who had been treated at Huddinge University Hospital between 1984 and 1999.

For every patient with primary sclerosing cholangitis and inflammatory bowel disease (IBD, n=126), the researchers randomly selected a control patient with IBD (n=126), matched for age, sex and type of IBD.

The researchers asked all patients and controls to answer a questionnaire comprising information about autoimmune diseases among first-degree relatives.

The researchers identified 22 index cases with PSC from 21 families with a first-degree relative with either chronic liver disease and/or IBD.

The prevalence of PSC among first-degree relatives was 1%.
In siblings the prevalence was 2%
Journal of Hepatology

The research team found that 5 patients with PSC had a first-degree relative with PSC (3%).

In addition, the researchers noted that the prevalence of PSC among first-degree relatives was 1%. In siblings the prevalence was 2%.

The researchers found that the prevalence of first-degree relatives with autoimmune diseases outside the liver was similar in PSC patients and controls.

Dr Lindberg concluded, "First-degree relatives of patients with PSC have a PSC prevalence of 0.7%."

"This represents a nearly 100-fold increased risk of developing PSC compared with the general population, supporting the hypothesis that genetic factors are of importance for development of PSC."

Journal of Hepatology; 2005: 42 (2): 252-56
25 January 2005

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