Table 2

Case histories of the four patients with both PBC and coeliac disease

Age Sex Symptoms and signs Initial investigations Subsequent investigations and outcome
51FDiarrhoea, pruritus, weight loss, pigmentation, steatorrhoeaHb 11.3 g/dl; MCV 76 fl; ferritin < 5 ng/l; folate 1.6 ng/ml; AP 1813 U/l; bilirubin 18 μmol/l; AST 89 U/l; γ-GT 582 U/l; albumin 35 g/l; AMA 1/1000; ANF 1/40; liver biopsy: PBC, grade 4 cirrhosis; duodenal biopsies: subtotal villous atrophyGluten exclusion led to rapid resolution of diarrhoea and weight gain, repeat duodenal biopsy at 9/12: minimal partial villous atrophy, liver disease progressed: liver transplant at three years after initial presentation, currently well
57FDiarrhoea, abdominal pain, weight loss, hepatosplenomegalyHb 8.8 g/dl; MCV 76 fl; vitamin B12130 ng/l; folate 2.3 ng/ml; ferritin 6 ng/l; faecal fat 30 g/day; AP 36.5 KA units; AST 164 U/l; AMA 1/2560; liver biopsy: PBC, grade 3 cirrhosis; duodenal biopsies: subtotal villous atrophyWell for nine years then developed CRST syndrome and hyperslenism, repeat duodenal biopsies: partial villous atrophy, repeat LFTs: AP 540 U/l; AST 47 U/l; albumin 31 g/l, multiple transfusions required for hypersplenism, died of pneumonia 15 years after initial presentation
32FPruritus, anorexia, weight lossHb 8 g/dl; MCV 66 fl; AP 794 U/l; AST 85 U/l; bilirubin 17 μmol/l; albumin 34 g/l; duodenal biopsy: subtotal villous atrophy; liver biopsy: non-specific inflammationGluten exclusion and haematinic supplements resulted in weight gain, pruritus persisted; LFTs remained abnormal, started oral contraceptive: developed jaundice; resolved on stopping, LFTs remained abnormal; repeat duodenal biopsy: good response to gluten exclusion, AMA 1/1024, review of previous liver biopsy: PBC, four years after initial presentation: xanthelasmata, spider naevi, jaundice, hepatospenomegaly, started on ursodeoxycholic acid: LFTs improved, currently asymptomatic
51MOsteoporosisAP 1131 U/l; AST 77 U/l; γ-GT 904 U/l; liver biopsy: minimal portal tract inflammation onlyNo diagnosis at first, over next 10 years developed pruritus, weight loss, pigmentation, splenomegaly, LFTs worsened, endoscopy revealed varices, repeat liver biopsy: PBC, grade 4, ERCP: consistent with cirrhosis, AMA still negative, iron deficiency anaemia developed, low vitamin B12, duodenal biopsies: subtotal villous atrophy, antireticulin antibodies positive, gluten exclusion resulted in improved well being, repeat duodenal biopsy: mild partial villous atrophy only, LFTs did not change after gluten exclusion
  • Hb, haemoglobin; MCV, mean cell colume; AP, alkaline phosphatase; AST, aspartate aminotrnasferase; γ-GT, γ-glutamyltransferase; AMA, antimitochondrial antibody; ANF, antinuclear factor; LFT, liver function test; PBC, primary biliary cirrhosis; ERCP, endoscopic retrograde cholangiopancreatography.