Overlap syndrome: Report of a case and review of the literature.

Introduction and Objectives

Autoimmune liver disorders, like autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing cholangitis, are characterized by an atypical immune response that targets bile duct damage in primary biliary cholangitis and significant portal and lobular lymphoplasmacytic inflammation in autoimmune hepatitis. Most patients have no difficulty distinguishing between the two entities. However, certain individuals exhibit symptoms of a confluence of two autoimmune liver disorders, referred to as Overlap Syndrome.

We present the case of a woman who has been diagnosed with primary biliary cholangitis with some features of autoimmune hepatitis.

Materials and Patients

A 48-year-old woman presents with a 3-year history of jaundice, night-time pruritus, fatigue, and a 10-kilogram weight loss. Her medical record includes arterial hypertension for one year of evolution and weekly consumption of 50 g of alcohol for 20 years.

Results

Blood analysis showed BT 1.4, BD 0.63, TGO 236, TGP 220, FA 2505, DHL 441, AFP 1.89, CA19-9 6.43, and a negative viral panel. Liver ultrasonography showed early-stage liver cirrhosis. Endoscopy revealed erosive gastritis. A percutaneous liver biopsy showed portal and periportal nonspecific chronic inflammation with localized necrosis. The patient was prescribed ursodeoxycholic acid TID and prednisone 50 mg QD based on the initial suspicion that he had primary biliary cholangitis. At a subsequent appointment, she presented AST 132, ALT 114, FA 583, GGT 474, positive ASMA, and ANA 1:160. The diagnosis of an overlap syndrome between primary biliary cholangitis and autoimmune hepatitis was made in accordance with the Paris criteria. The patient received prednisone 25 mg QD, azathioprine 50 mg QD, and ursodeoxycholic acid TID.

Conclusions

In the present case report, the patient's condition progressed, manifesting symptoms indicative of chronic liver injury. Immunosuppressants and ursodeoxycholic acid were administered according to guidelines, improving symptoms and biochemical indicators. Liver biopsies and noninvasive methods for liver fibrosis staging and disease progression deserve further investigation.

Autoimmune liver disorders are distinguished by an atypical immune reaction that targets the hepatocytes or bile ducts. Certain individuals exhibit symptoms of a co-occurrence of two medical conditions, referred to as Overlap Syndrome, which is associated with more severe outcomes. These outcomes include Crohn's disease, Sjögren's syndrome, cirrhosis, and hepatocellular carcinoma.

The variability of presentation and clinical characteristics in autoimmune liver disorders has made Overlap Syndrome classification, diagnosis, and treatment debated. The Paris criteria (Chazouillères 1998) are the most practical option for implementation due to their inherent simplicity and precision. Nevertheless, certain guidelines recommend against the utilization of the Paris criteria due to certain limitations. Future studies and validation of diagnostic and prognostic scores are needed for effective and timely therapy.

Ethical statement

The identity of the patients is protected. Consentment was obtained.

Declaration of interests

None

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.