Familial occurrence of autoimmune liver disease with overlapping features of primary biliary cholangitis and autoimmune hepatitis in a mother and her daughter

Abstract

We encountered two patients with overlapping features of primary biliary cholangitis and autoimmune hepatitis within the same family. A 68-year-old woman presented at our hospital from a previous medical institution because of the diagnosis of primary biliary cholangitis. Her 49-year-old daughter was admitted with liver dysfunction 4 years later. When compared, these two related patients were found to have overlapping features of primary biliary cholangitis and autoimmune hepatitis. Their human leukocyte antigen haplotype was DRB1*04:05/DRB1*15:02. The clinical and biochemical findings of these two patients immediately improved following treatment with a combination of prednisolone and ursodeoxycholic acid, in accordance with the Japanese guidelines. It is extremely important to identify such pathological conditions as quickly as possible, particularly with the appearance of severe liver dysfunction due to liver cirrhosis, as observed in our case. The Japanese guidelines are considered to be a realistic and useful clinical policy for the swift and efficient treatment of patients with overlapping features of primary biliary cholangitis and autoimmune hepatitis. We suggest that our two patients presented with a genetic predisposition to autoimmune liver disease with overlapping features of primary biliary cholangitis and autoimmune hepatitis within the same family.

Keywords: Autoimmune hepatitis; Familial; Overlap syndrome; Primary biliary cholangitis.

Fig. 1

Clinical course of case 1 (mother). Following diagnosis with an autoimmune liver disease with overlapping features of primary biliary cholangitis and autoimmune hepatitis, the patient was treated with a combination of 600 mg/day ursodeoxycholic acid (UDCA) and 5 mg/day prednisolone (PSL) in accordance with the Japanese guidelines, resulting in the gradual improvement of both clinical and biochemical findings. Key: ANA antinuclear antibody, AMA-M2 anti-mitochondrial antibody-M2

Fig. 2

Liver histology for case 2 (daughter). a Liver biopsy showing severe chronic hepatitis with marked interface hepatitis (×2). b Magnified view of the liver biopsy showing dense lymphocytic/lymphoplasmacytic infiltrations in portal tracts and severe piecemeal necrosis (arrow, ×5). c Liver biopsy showing the absence of bile duct lesions, indicative of chronic nonsuppurative cholangitis and periductal granuloma (×20). d Severe intralobular necrosis and degeneration of hepatocytes (arrowhead, ×20)

Fig. 3

Clinical course of case 2 (daughter). Liver biopsy was performed on the day of admission. Following diagnosis with an autoimmune liver disease with overlapping features of primary biliary cholangitis and autoimmune hepatitis, the patient was treated with a combination of 600 mg/day ursodeoxycholic acid (UDCA) and 30 mg/day prednisolone (PSL) in accordance with the Japanese guidelines, resulting in an improvement of both clinical and biochemical findings within 1 month. Liver function has remained normal ever since, despite the subsequent tapering of PSL. Key: ANA antinuclear antibody, AMA anti-mitochondrial antibody, AMA-M2 anti-mitochondrial antibody-M2