Autoimmune hepatitis/primary biliary cirrhosis overlap syndrome developed in a patient with vitiligo and Hashimoto thyroiditis

Abstract

Autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC) are main autoimmune liver diseases. The term overlap syndrome describes the coexistence of two autoimmune liver diseases in the same patient, and AIH/PBC overlap is the most common form 1–3. Patients with AIH/PBC overlap also have other organ and nonorgan specific autoimmune diseases. In the may issue of the European Journal of Gastroenterology & Hepatology, Efe et al. 4 described this association in a large group of AIH/PBC patients. In this study, they found a 43.6% (31/71) prevalence of extrahepatic autoimmune diseases in patients with AIH/PBC overlap. Autoimmune thyroid diseases, Sjögren syndrome, celiac disease, psoriasis, and rheumatoid arthritis were the most commonly associated autoimmune diseases. To contribute additional information in this area of active investigation, we would like to present a case of AIH/PBC overlap that developed in a patient with Hashimoto thyroiditis and vitiligo. A 52-year-old man with a known history of both Hashimoto thyroiditis and vitiligo first presented to our clinic with fatigue, pruritus, and yellowish discoloration of the sclera and skin. Laboratory examinations yielded the following results: alanine aminotransferase 278 IU/l (0–54 IU/l), aspartate aminotransferase 228 IU/l (0–34 IU/l), alkaline phosphatase 512 IU/l (64–160 IU/l), γ-glutamyl transpeptidase 1315 IU/l (20–64 IU/l), total bilirubin 6.5 mg/dl (0.6–1.2 mg/dl), IgG 36.6 g/l (7–16 g/l), and IgM 3.5 g/l (0.4–2.3 g/l). Antinuclear antibody was positive at the titer of 1/320, smooth-muscle antibody was 1/320, antimitochondrial antibody (AMA-M2) was 1/160, and anti-double-stranded DNA (ds-DNA) was 3.4 (0.1–1.1). Findings on a subsequent liver biopsy were consistent with both AIH and PBC, with moderate interface hepatitis along with proliferation of the bile ducts. With a diagnosis of AIH/PBC overlap syndrome, the patient was started on a daily regimen of 30 mg prednisolone, 50 mg azathiopyrine, and 1250 mg ursodeoxycholic acid (UDCA). After remission was achieved, prednisolone was tapered slowly to a maintenance dose of 5 mg/day whereas azathioprine and UDCA were continued at the same doses. The overlap of AIH and PBC is a very rarely encountered clinical entity in clinical practice. Although still there is no consensus on diagnosis and therapy regimes, the Paris criteria suggested by Chazouillères et al.2 are widely used for the diagnosis of these patients. Our patient fulfilled the criteria of overlap syndrome and also showed concomitant AMA and ds-DNA seropositivity, which was found to be a highly specific serological marker of AIH/PBC overlap 5,6. Therapy of these patients includes UDCA combination with immunosuppressive or UDCA alone 1,7. For our patient, we preferred the combination therapy regime and this led to complete biochemical remission 3 months after the initiation of therapy. The coexistence of AIH and PBC with other autoimmune disorders has been well described in large population-based studies 8,9. However, until recently, this association has been described in only small case-based studies for patients with overlap syndromes 10–12. However, in the study by Efe et al.4, a high prevalence of concurrent autoimmune diseases have been reported in a large population of AIH/PBC overlap patients. This study highlighted the importance of considering the association of AIH/PBC overlap syndrome in patients with other known autoimmune disorders presenting with liver dysfunction or extended screening for existing autoimmune diseases during the routine assessment of patients with overlap syndrome. Acknowledgements Conflicts of interest There are no conflicts of interest.