Complete spectrum of AMA-M2 positive liver disease in north India

Purpose This study describes the clinical, histological, and genetic profile of AMA-M2 positive liver disease in north India. Methods Over 13.5 years, 11,221 patients suspected of AiLD (autoimmune liver disease) and negative for viral markers were screened for autoantibodies, ANA, ASMA, AMA, and LKM, by indirect immunofluorescence. Of these patients, 135 were AMA positive and 132 AMA-M2 positive. Clinical presentation of most of these patients was neither typical of AIH nor PBC. Sera of these patients were further tested for gp 210 and Sp 100. Fifty consecutive consenting patients were typed for HLA class II alleles DR and DQ and their clinical, biochemical, histology and genetic profiles were reviewed to characterize the disease spectrum in north India. Results Only 22 of 50 patients had liver histology reports, and could be categorized on the basis of the criteria by Chazouillers et al. Of these 22, 13 had overlap syndrome, eight had classical PBC, whereas one had probable PBC. The remaining 28 could not be suitably categorized due to lack of liver histology. HLA DRB1*03 was found to be significantly associated with the disease in North Indian population. Conclusion This 13.5-year study demonstrates a definite rising annual incidence of AMA-M2-positive liver disease in north India. Complete evaluation of 50 patients indicated that a hepatitic variant of PBC (PBC-AIH), which is significantly associated with DRB1*03, predominates in north India.