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  3. Management
  4. Complications of coeliac disease
  5. Non responsive and refractory coeliac disease

Non responsive and refractory coeliac disease

Non responsive coeliac disease

The majority of individuals with coeliac disease report a rapid clinical improvement after starting a gluten free diet and symptoms usually improve within a few weeks. However, there are a number of people with coeliac disease who do not respond to the gluten free diet or who respond initially and then see a recurrence in their symptoms.

Failure to respond to a gluten free diet in coeliac disease usually occurs because of ongoing gluten ingestion and it is important that this is ruled out before considering alternative diagnoses.

The next step is to review the certainty of the original diagnosis.

Other reasons for ongoing symptoms include:

  • co existent inflammatory bowel disease
  • microscopic or inflammatory colitis
  • small bowel bacterial overgrowth
  • lactose intolerance
  • functional bowel disorders

Refractory coeliac disease is a very rare complication of coeliac disease that is associated with an increased risk of malignancy.

Refractory coeliac disease

Symptoms of refractory coeliac disease (RCD) include persistent severe diarrhoea, abdominal pain and sudden unexplained weight loss. The true prevalence of RCD is unknown but estimates suggest that around two to five per cent of people with coeliac disease may have RCD.

A diagnosis of RCD is extremely rare before 30 years of age and in most cases it is diagnosed over the age of 50. It is estimated that RCD affects two to three times as many women as men and this is consistent with the increased prevalence of coeliac disease in women compared to men.

Diagnosis

RCD is diagnosed if the original diagnosis of coeliac disease has been confirmed, and exposure to gluten and any co existing conditions have been excluded as the cause of continuing symptoms. People with RCD should be referred to a specialist centre for further investigation.There are two types of RCD which are diagnosed from Polymerase Chain Reaction (PCR) analyses of small intestinal biopsies.

  • Type 1 RCD – there is polyclonal expansion of T-cells as shown by polyclonality of the T-cell receptor loci
  • Type 2 RCD – defined as the presence of monoclonality of the gamma T-cell receptor (TCR).

Complications

RCD is associated with a higher risk of complications and mortality, especially with Type 2 RCD. People with Type 2 RCD are at an increased risk of developing malignancy, particularly enteropathy-associated T-cell lymphoma (EATL) and prognosis is poor. Aberrant intraepithelial lymphocytes in Type 2 RCD are considered a premalignant cell population from which enteropathy T-cell lymphoma can evolve. Nutrition will be impaired because of ongoing malabsorption.

Treatment

Due to the rarity of RCD limited clinical trials have been carried out. Treatments are based on case reports, observational reports and expert opinion.

When a patient is not responding to a gluten free diet it is essential that a dietitian performs a dietary evaluation. Regular dietetic input is important to assess nutritional adequacy and despite not responding to the diet it is essential that someone with RCD continues to follow a strict gluten free diet as part of their management plan.

Admission to hospital may be needed to monitor adherence to the gluten free diet. Nutritional treatment should include incorporating strategies to address any nutritional deficiencies.

Drug treatments may include steroids, immunosuppressive drugs, chemotherapy or a combination of these. However these have had varying results and whichever treatment is chosen ongoing review from the healthcare team is essential.

  • Type 1 – Prednisolone, budesonide or a combination of prednisolone and azathioprine can be given to induce clinical remission and mucosal recovery in most people with Type 1 RCD. In a few individuals with Type 1 RCD an elemental diet has been shown to induce long term immunopathologic, histologic and clinical improvement. However, more research is required before this can be considered a valid treatment option for Type 1 RCD.
  • Type 2 – Treatment for Type 2 RCD is more difficult and the consensus on treatment can vary. The majority of people with Type 2 RCD respond clinically to steroids however mucosal recovery is less likely and does not prevent the development of EATL. Due to the possibility of developing overt lymphoma, there is a need for close monitoring and follow up. Large randomised controlled trials which would require collaboration between several specialist centres are needed to provide an evidence base for the treatment of Type 2 RCD.

Rubio-Tapia A and Murray J A. (2010). Classification and management of refractory coeliac disease. Gut 59: 547-557.

Explaining RCD to patients

It can be difficult to explain RCD to your patients and they may find the diagnosis upsetting and worrying. More information about RCD aimed at our Members is available which may help to explain it more easily to your patients.

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