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Case study: personal diagnosis of Coeliac Disease


Brief description

While classical gastrointestinal symptoms are widely recognised in Coeliac Disease, many individuals present with subtle or non specific features, which can delay diagnosis. This case study offers a unique perspective: a practising gastroenterology dietitian diagnosed with coeliac disease, highlighting clinical, psychological and practical challenges, and reflecting on the implications for dietetic practice.

Case presentation

1. Patient Background and Referral

A 30 year old female gastroenterology dietitian working in an acute teaching hospital was identified with abnormal blood results during routine investigations in primary care. She had no significant past medical history and was working full time in a specialist role at the time of diagnosis.

2. Presenting History

Routine blood tests demonstrated low iron levels, prompting further investigation by the GP, including coeliac serology. Tissue transglutaminase IgA (tTG IgA) was significantly elevated. Prior to this, there had been no gastroenterology referrals or investigations.

The patient perceived herself to be largely asymptomatic. On retrospective reflection, symptoms included long standing fatigue and intermittent mild abdominal bloating and discomfort, previously attributed to the menstrual cycle. There was no reported altered bowel habit, significant pain or weight loss. Symptoms were not severe or disruptive enough to prompt healthcare consultation.

3. Investigations and Diagnosis

An OGD with duodenal biopsies was performed in February 2025. Histology demonstrated diffuse intraepithelial lymphocytosis, increased inflammatory infiltrate in the lamina propria, and one biopsy fragment suggestive of subtotal villous atrophy. In conjunction with markedly raised tTG IgA, a diagnosis of coeliac disease was confirmed.

4. Anthropometry

  • Weight: 48 kg at time of diagnosis
  • Height: 1.64 m
  • Body mass index: 17.8 kg/m²

Weight had remained stable throughout adulthood, although there was a long standing difficulty gaining weight. Weight remained stable following diagnosis and dietary treatment.

5. Biochemistry

Initial blood tests demonstrated iron deficiency, reduced transferrin saturation and low Vitamin B12, consistent with malabsorption. Coeliac serology was markedly elevated (>250 U/mL) at diagnosis, with a progressive reduction over follow up at six and ten months. Improvements were also seen in iron indices following dietary treatment and supplementation. Renal function and electrolytes remained normal throughout. These findings supported mucosal healing and dietary adherence, although some micronutrient levels declined following cessation of supplementation, reinforcing the need for ongoing monitoring.

6. Dietary Assessment

Prior to diagnosis, the patient followed no dietary restrictions and consumed a nutritionally varied diet. Following diagnosis, a strict gluten free diet was implemented immediately. Despite professional expertise in managing coeliac disease, the practical application proved challenging. Significant time was spent re learning label reading, identifying hidden gluten sources, and addressing cross contamination. Support resources, reputable online literature and coeliac support groups were used, demonstrating that professional knowledge does not remove the complexity of living with the condition.

7. Psychosocial Factors

The diagnosis came as a shock. As a specialist dietitian, the patient was acutely aware of the lifelong nature of the condition and its potential complications. While motivated to adhere strictly to treatment, psychological readiness lagged behind clinical understanding. Concerns centred around eating out, holidays and loss of spontaneity around food. Although supported by her partner, there was a clear emotional adjustment period, characterised by anxiety, grief around food choices and fear of social restriction.

A worried young woman sits on a sofa, hands covering her mouth, with shelves of plants in the background

8. Dietetic Intervention and Follow Up

A strict gluten free diet was maintained, supported by education, careful planning and use of specialist resources. Vitamin D, Vitamin B12 and iron supplementation was continued during the initial period of intestinal healing. Some supplements were later discontinued once biochemical improvement was demonstrated.

Dietary adherence remained strict. Weight was stable, coeliac serology had reduced substantially, and micronutrient status had improved. Eating out and travel were maintained but required extensive planning. Repeat OGD biopsies after 1 year showed normal duodenum with no villous atrophy.

Reflection and Learning

This case reinforces that coeliac disease does not always present with classical gastrointestinal symptoms. Subtle symptoms such as fatigue may be normalised and overlooked even by those working within this specialist area of healthcare. Importantly, it highlights the psychological burden of a lifelong dietary diagnosis and the gap between clinical knowledge and lived experience.

The experience has directly influenced clinical practice, increasing emphasis on the emotional impact of diagnosis, validation of patient concerns, and recognition that adherence is socially and psychologically demanding. While often described as “diet managed”, this case demonstrates that strict lifelong dietary treatment carries a significant personal burden requiring empathetic, ongoing dietetic support.

Sources

Claire Morgan RD, London

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