Members of three families had primary sclerosing cholangitis and chronic ulcerative colitis. In each family, 2 siblings were affected; in one instance, they were twin brothers. All 6 individuals had primary sclerosing cholangitis and 5 also had ulcerative colitis. These cases represent the first reported instances of the familial occurrence of both primary sclerosing cholangitis and chronic ulcerative colitis; illustrate the typical clinical, laboratory, radiologic, and pathological features of primary sclerosing cholangitis; and support the hypothesis that genetic factors may play a role in the etiology of this obscure disorder.
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