Case study: Undiagnosed coeliac disease

A blood test for coeliac disease provided the diagnosis. By Dr Harry Brown

The patient previously had a colonoscopy and endoscopy
The patient previously had a colonoscopy and endoscopy

A 64-year-old male patient presented with a long-standing unpredictable and irregular bowel habit.

Recently there had been a definite change in his bowel habit, to a mixture of constipation and loose stools, but it was difficult to pin down exactly when this happened.

His wife had made him attend because her mother had died some years ago from bowel cancer.

The patient was otherwise well and denied any current rectal bleeding or other symptoms. His appetite was fine; there was no weight loss and no abdominal pain. He had no significant family history except his mother, who had recently died from an unknown liver complaint.

He worked as a hospital porter and had some reasonable medical knowledge because he had previously worked as a paramedic.

Previous GI work-up

According to his records, it was nearly three years since the last time he was investigated for GI problems. At that time he presented with a few isolated episodes of rectal bleeding and altered bowel habit.

He went on to have a colonoscopy and sigmoidoscopy, which revealed some haemorrhoids that were subsequently banded. He also had some random colonic biopsies, which were normal. He was subsequently discharged. He had no further rectal bleeding after this episode.

A few weeks after his lower GI work-up, the patient complained of indigestion. After this had lasted for several weeks, he had an endoscopy. This showed gastritis and Helicobacter pylori was isolated from his stomach biopsy. He received the appropriate therapy.

At this time his FBC, U&Es and LFTs were normal, although his glucose was slightly raised. A subsequent fasting glucose was normal. No other blood tests were performed and no other diagnoses were considered.

The patient had delayed seeking medical advice this time because he assumed he would need a repeat colonoscopy and endoscopy, and he found his previous experience of these procedures disagreeable.

I explained that it was likely he would need another colonoscopy, but I suggested some routine blood tests initially and he agreed to that.

A surprising blood result

About a week later, I saw his results and to my surprise, his tissue transglutaminase antibody was positive.

I referred the patient to the coeliac clinic and a histological diagnosis substantiated the serological findings. He was started on a gluten-free diet under the supervision of the dietitian. His bowels have now returned to a more normal pattern.

Looking back at his records, no coeliac serology was performed the first time, simply because it did not seem relevant with the overall clinical picture apparent at that time.

Chronic condition

Coeliac disease is a chronic inflammatory condition of the small intestine with a partially genetic basis. Environmental factors also play a significant part in the aetiology.

It involves a reaction to gluten, found not just in wheat, but in barley and rye as well. A person with the appropriate genetic make-up generates an immunological response when exposed to gluten, which results in characteristic microscopic features witnessed on biopsy specimens taken from the mucosa of the small intestine.

This condition can have a number of presentations. Children can present as failure to thrive. The incidence in women is greater than in men. Some patients may have no symptoms at all, whereas others may present with malabsorption, diarrhoea and nutritional deficiencies which can, for example, manifest as iron-deficiency anaemia.

Other patients may present with vague symptoms, such as being tired all the time, or unexplained GI symptoms. Some newly diagnosed patients may have no symptoms, although they may have unappreciated nutritional or metabolic problems only detected by blood tests.

After diagnosis

About one in 10 affected patients have dermatitis herpetiformis, an itchy rash which can blister.

Neuropsychiatric problems, such as peripheral neuropathy and depression, and impaired fertility may occur but are not common.

Patients with coeliac disease are at risk of GI malignancy and metabolic bone disorders such as osteoporosis due to malabsorption of vitamin D and calcium.

Clinicians should have a high index of suspicion and a low threshold for screening for coeliac disease. There remains a large pool of undiagnosed disease.

Coeliac disease may also affect family members and NICE recommends screening first-degree relatives by serology after the index case is confirmed.

The cornerstone of management is a gluten-free diet. This is a lifelong commitment, which can lead to problems with compliance.

Dietitians and patient self-help groups (such as Coeliac UK, can offer advice.

  • Dr Brown is a GP in Leeds. With acknowledgment to Dr Richard Shenderey, consultant in gastroenterology, Airedale General Hospital, Keighley, West Yorkshire.


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