Autoimmune hepatitis–autoimmune cholangitis overlap syndrome and autoimmune thyroiditis in a patient with celiac disease

ABSTRACT BACKGROUND: Autoimmune hepatitis (AIH) is a rare chronic inflammatory liver disease associated with a loss of immunological tolerance to self-antigens. Susceptibility to AIH is partially determined by the presence of genes related to human leukocyte antigen (HLA), mainly allelic variants of DRB1. OBJECTIVE: The purpose of this study was to investigate the frequencies of the polymorphisms in HLA-DRB1 gene in children and adolescents with type 1 AIH and type 1 AIH overlap syndrome with autoimmune cholangitis (overlap syndrome, OS) in comparison to healthy sex and age-matched individuals (control group). METHODS: This is a cross-sectional study of 25 pediatric patients diagnosed with type 1 AIH and 18 with OS. Fifty-seven healthy individuals were included as controls. The polymorphisms of the HLA-DRB1 gene were evaluated by PCR and included HLA-DRB1*03, HLA-DRB1*04, HLA-DRB1*07, and HLA-DRB1*13. RESULTS: Our results showed that the presence of the allele HLA-DRB1*13 increased the chance of autoimmune cholangitis (OR=3.96, CI 1.07 to 14.61, P=0.04). The HLA-DRB1*04 and HLA- DRB1*07 have no association with the AIH and autoimmune cholangitis in a young sample. CONCLUSION: This work demonstrates an association of the main polymorphisms in the HLA-DRB1 gene to AIH with or without cholangitis in a Brazilian sample.

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Autoimmune hepatitis/autoimmune cholangitis — a new overlap syndrome?

Journal of Hepatology ◽

10.1016/s0168-8278(00)81171-x ◽

2000 ◽

Vol 32 ◽

pp. 220

Author(s):

B. Walewska-Zielecka ◽

A. Habior ◽

W. Zych

Keyword(s):

Autoimmune Hepatitis ◽

Overlap Syndrome ◽

Autoimmune Cholangitis

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Primary Biliary Cirrhosis – Autoimmune Hepatitis Overlap Syndrome Associated with Dermatomyositis, Autoimmune Thyroiditis and Antiphospholipid Syndrome

Journal of Gastrointestinal and Liver Diseases ◽

10.15403/jgld.2014.1121.cpa ◽

2015 ◽

Vol 24 (1) ◽

pp. 101-104 ◽

Cited By ~ 5

Author(s):

Cristina Pamfil ◽

Elisabeta Candrea ◽

Emese Berki ◽

Horațiu I. Popov ◽

Pompilia I. Radu ◽

...

Keyword(s):

Primary Biliary Cirrhosis ◽

Autoimmune Hepatitis ◽

Antiphospholipid Syndrome ◽

Autoimmune Thyroiditis ◽

Overlap Syndrome ◽

Biliary Cirrhosis ◽

Muscle Enzymes ◽

First Case ◽

Autoimmune Pathology

Autoimmune liver diseases may be associated with extrahepatic autoimmune pathology. We report the case of a 52-year old woman who initially presented to the gastroenterology department for extreme fatigue, pale stools, dark urine and pruritus. Laboratory tests showed significant cholestasis and elevation of aminotransferase levels. Immunological tests revealed positive antinuclear (ANA=1:320) and antimitochondrial antibodies (AMA=1:40) with negative anti-smooth muscle and liver kidney microsomal type 1 antibodies. The biopsy was compatible with overlap syndrome type 1. The patient was commenced on immunosuppressive therapy according to standard of care (azathioprine 50mg, ursodeoxycholic acid and prednisone 0.5mg/kg), with moderate biochemical improvement. She subsequently developed proximal symmetrical weakness and cutaneous involvement and was diagnosed with biopsy-proven dermatomyositis. The immunosuppressive regimen was intensified to 150 mg azathioprine. At the three-month follow-up, her symptoms subsided and aminotransferases and muscle enzymes normalized. Upon further investigation the patient was diagnosed with autoimmune thyroiditis and antiphospholipid syndrome. To our knowledge, this is the first case of primary biliary cirrhosis - autoimmune hepatitis overlap syndrome associated with dermatomyositis, autoimmune thyroiditis and antiphospholipid syndrome.

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