Autoimmune Hepatobiliary Disease in Trisomy 21

Abstract

Two patients with abnormal liver biochemistry are presented with hepatobiliary disorders rarely described in trisomy 21. The first was considered to have primary sclerosing cholangitis (PSC) and Crohn's disease. Liver biochemistry was normal after six months' treatment with ursodeoxycholic acid and diarrhea resolved after sulfasalazine. The second patient had autoimmune hepatitis that responded to immunosuppression. Autoimmune hepatobiliary disorders, highlighted by this report, occur in trisomy 21 but are rare. A high index of suspicion for these potentially treatable disorders is required.

Crohn's disease in a child with Down syndrome

“…Kaushik et al . reported an adult patient with DS associated with CD and hepatobiliary disease 6 . The case we have described confirms the possibility of an association between CD and DS.…”

“…Over the years, a number of reports have been published regarding the coexistence of various autoimmune diseases in patients with DS 6,9 . However, little is known about the relationship between these pathologies and CD.…”

“…However, it has been reported that the incidence of CD in childhood is rising 4 . Associations between CD and Down syndrome (DS) have rarely been reported 5−7 …”

Crohn's Disease and Primary Sclerosing Cholangitis: A Case Report and Review of the Literature

“…For patients with end-stage PSC, liver transplantation remains the only effective treatment. One report described a CD patient with PSC who had an active terminal ileal ulcer that improved after liver transplantation (12). However, there are other reports of increased rates of colon cancer after liver transplantation (15).…”

“…This risk for cholangiocarcinoma and hepatocellular carcinoma is higher in patients with PSC associated with CD than those with PSC alone with an estimated annual incidence of 0.5%-1% (17,36). Two cases with diagnosed PSC associated with CD have been reported to have been complicated by the appearance of hepatocellular carcinoma (12,17). Some practice guidelines have recommended that patients with PSC and CD should have periodic CA 19-9 testing, abdominal ultrasound examinations and annual surveillance colonoscopies with multiple random biopsies for the detection of dysplasia (37,38).…”