Autoimmune hepatitis and coeliac disease. Simultaneous onset of both diseases

We present a patient who developed autoimmune hepatitis (AIH) and coeliac disease simultaneously, requiring both immunosuppressant therapy and a gluten-free diet to achieve remission of both diseases.

The case concerns a 50-year-old male patient, non-smoker and occasional consumer of alcohol, with no medical or surgical prior history of interest who, after a Mediterranean cruise, developed diarrhoea without blood, mucous or pus. A complete blood count was performed that revealed hypertransaminasaemia (GPT 352 U/l, GOT 318 U/l, GGT 64 U/l), with negative serology (HAV, HCV, Epstein–Barr virus, CMV), negative stool cultures and faecal parasites, as well as normal thyroid function and iron profile. Liver enzymes were normal in a prior blood panel. The abdominal ultrasound was also normal. The patient also had dyspepsia with persistent diarrhoea. More precise lab tests were performed, which were positive for ANA (1/80) and anti-transglutaminase (248 U/ml), and revealed elevated IgG and IgA levels (18.63 g/l and 5.19 g/l, respectively). The genetic testing was positive for HLA-DR 3 and HLA-DQ 2. A gastroscopy was performed with biopsies of the second portion of the duodenum (AP: finding of intraepithelial lymphocytes and subtotal/total villous atrophy in assessed fragments of the distal duodenum) and liver biopsy (AP: periportal hepatitis with intense inflammatory activity, with moderate interface hepatitis, moderate lobular inflammatory activity with focal necrosis and fibrosis forming septa and focal architectural distortion. No steatosis or iron deposit). The pre-treatment score for AIH was 17.

After confirming the two diagnoses, treatment was started with prednisone 30 mg, azathioprine 50 mg and a gluten-free diet. The prednisone dose was gradually reduced, with normal hepatic enzyme and anti-tissue transglutaminase antibody levels four months after the introduction of treatment. IgG levels normalised at two months. After completing eight months of a tapering regimen of corticosteroids and experiencing side effects such as the onset of moon face, corticosteroid treatment was suspended, while azathioprine and the gluten-free diet were maintained. Five years after the initial onset of symptoms and following a liver biopsy that confirmed histological remission of AIH, azathioprine was finally suspended, maintaining a gluten-free diet as the only treatment. Since then, all ultrasound scans, blood tests and pathology studies have been normal. The patient is currently asymptomatic and undergoes regular check-ups for both AIH and gluten-sensitive enteropathy (coeliac disease).

It is not uncommon for a single person to have several different autoimmune diseases.¹ It has been shown that genetic predisposition can give rise to various autoimmune diseases, as they often share the same genetic loci. This is true of coeliac disease and AIH, as both conditions express similar gene combinations that encode HLA class II molecules in chromosome 6.² The prevalence of coeliac disease in adult patients with AIH is 10% higher than in the general population.³ Coeliac disease has been associated with autoimmune liver diseases (AIH, primary sclerosing cholangitis, primary biliary cholangitis) as well as hepatitis B and C, non-alcoholic steatohepatitis, Wilson's disease, cirrhosis and portal hypertension and hypertransaminasaemia associated with coeliac disease.²

However, the unusual feature of this case is that both diseases manifested simultaneously, rather than one preceding the other (which is more common). This raises the question of whether the same trigger may have been responsible for two different autoimmune diseases. The simultaneous onset of both processes is less common in adults than in children.⁴

In recent years, research has been focussed on the potential benefits of a gluten-free diet to manage or improve liver enzyme levels in AIH.⁵ For example, one published study that compared two patient groups found that more patients from the group with AIH and coeliac disease who started a gluten-free diet achieved disease remission (or were treatment-free) than from the group with AIH but with no coeliac disease (33% remission in the first group vs. 8% in the second).⁴ Patients with AIH and coeliac disease who follow a gluten-free diet seem to be less likely to relapse after suspending immunosuppressant therapy compared to patients with AIH not associated with coeliac disease.^2,4

As coeliac disease and AIH may occur simultaneously, the initial diagnosis of one of these processes should lead to screening for the other. Finally, following a gluten-free diet seems to have a beneficial effect on AIH in patients who have coeliac disease and AIH.