Case Study - A cause of anaemia and tiredness found

The penny dropped when the patient revealed a key detail from her family history, explains Dr Harry Brown.

Biopsy via endoscope confirms the diagnosis of coeliac disease
Biopsy via endoscope confirms the diagnosis of coeliac disease

Mrs Smith was a 43-year-old housewife who was generally well and healthy but led a stressful life. She was divorced but in a stable relationship, had no children and was not a frequent attender at the surgery.

She had been diagnosed with irritable bowel syndrome but was not on regular medication. She worked long and irregular hours for an IT company. She occasionally drank alcohol and had a BMI of 29.

Mrs Smith attended the surgery complaining of feeling tired all the time for about three months. She woke up in the morning still feeling tired and not refreshed. I asked her if her lifestyle could have been contributing to her symptoms and she agreed that it was a possibility. She had attended because she wanted a blood test.

I asked if she had any blood tests in mind and she said no but felt as if she needed a check-up. There was nothing significant in the history and physical examination was unremarkable.

I noticed that her cervical smear was overdue and she needed an IUD check, so I suggested that she make an appointment to see the nurse for a cervical smear, IUD check and some routine blood tests.

Iron deficiency
Her blood tests came through a few days later. Of interest was that her Hb was 9.3g/dL, her MCV was 75fL and a blood film suggested iron deficiency. The rest, including U&Es, LFTs and TFTs, were normal.

Mrs Smith attended surgery a few days later and I delved deeper into the history. She had no obvious blood loss, she had an IUD in place and had had no periods for about two years. She denied taking OTC medications and I really had drawn a blank on the cause of her anaemia.

I finally asked about family history of illnesses and the only thing she could think of was that a cousin had an allergy to food. Mrs Smith said she thought it was to gluten. At that point the penny dropped that Mrs Smith probably had coeliac disease.

I commenced her on ferrous sulphate after she attended for some further blood tests, which included B12 and folate, ferritin, calcium and anti-tissue transglutaminase antibodies.

Unsurprisingly, these antibodies were positive (as were the endomysial antibodies) and I saw her the following week. The rest of her blood tests were normal, but the ferritin was low.

I explained it was likely that she had coeliac disease, and I referred her to the local coeliac service to confirm the diagnosis. I added that she would have a small bowel biopsy via endoscopy to obtain definitive histological diagnosis.

She was told not to start a gluten-free diet until advised by the specialists when the diagnosis was confirmed. This is important as blood tests are sometimes misleading. She had the characteristic changes of coeliac disease in her small bowel biopsy.

Food on prescription
Subsequently, Mrs Smith saw a dietitian to find appropriate foods for prescription and commenced on a gluten-free diet. She had a DXA scan to exclude osteoporosis, and it was normal.

When she then came to see me, I entered all her prescription food products onto her record so she could have a repeat prescription. I gave her a patient information leaflet on coeliac disease. This also had the contact details of the organisation Coeliac UK.

I saw her a month later. She had found the patient information leaflet helpful. She was reassured by the fact that the outlook is good when there is good compliance with a gluten-free diet.

I suggested that first-degree relatives might want to be screened by offering them serological testing, as recommended by NICE. She later told me that none of her relatives had tested positive. In Mrs Smith's family, only her and her cousin with the food allergy had coeliac disease.

  • Dr Brown is a GP in Leeds

Learning points

  • Coeliac disease can present at any age.
  • Have a high index of suspicion for this condition.
  • Osteoporosis and malignancy are complications of coeliac disease.
  • Around 1 per cent of the population may have coeliac disease.
  • Consider offering all people with type-1 diabetes blood tests for coeliac disease.

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