Severe Refractory Coeliac Disease with Response Only to Parenteral Nutrition

Abstract

Refractory coeliac disease (RCD) is characterised by recurrent or persistent malabsorptive symptoms and villous atrophy, despite strict adherence to a gluten-free diet for at least 6 months and where other causes of malabsorption including malignancy have been excluded. There is limited evidence and guidance on the effective management of these patients. We describe a case of severe RCD in our hospital, with symptoms controlled effectively only by total parenteral nutrition (TPN). This 68-year-old woman initially presented to the clinic with persistent non-bloody diarrhoea and vomiting. A diagnosis of coeliac disease was confirmed with a positive tissue transglutaminase assay and histology. A strict gluten-free diet was ineffective and she represented 6 months later with 13 kg weight loss (16.7%), ongoing abdominal pain and diarrhoea, with bowels opening 16 times a day. She was oedematous, had an albumin of 12 g/l and required hospital admission. She was treated for pancreatic insufficiency and presumptively for small bowel bacterial overgrowth with no resolution of symptoms. We ruled out infectious causes and investigated for small bowel malignancy; all results were negative. Small bowel enteroscopy showed ulcerative jejunitis. She was given 5 days of TPN, following which her symptoms improved and albumin normalised. This was sustained with symptom resolution and weight gain seen at follow-up. TPN successfully and rapidly induced remission in this case. Thus, a short period of TPN should be considered as a potential component of management in patients with severe RCD.

Serum Citrulline and Ornithine: Potential Markers of Coeliac Disease Activity

“…Since 2000, Crenn et al presents citrulline as a possible laboratory indicator of intestinal failure and diseases associated with villous atrophy (21,22). There is a strong correlation between serum citrulline levels and the severity of small bowel failure (which is well and precisely defined), but the diagnosis of intestinal failure remains relatively rare (12,17) and uncomplicated coeliac disease is not a common cause of intestinal failure (13,15). Although citrulline has been the subject of other published studies (22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40) describing its relationship to intestinal diseases (plasma concentrations reliably reflect the total functional mass of enterocytes) (22,(36)(37)(38)(39)(40)(41), its determination is not well defined in routine clinical practice.…”

“…Literature data suggest the utility of plasma citrulline levels to monitor disease severity in patients with extensive and/or destructive involvement of the small intestinal mucosa (including complicated forms of coeliac disease such as refractory coeliac disease, ulcerative jejunoileitis and T-cell lymphoma-associated enteropathy), which can lead to small bowel failure and/or malabsorption syndrome (12,13), rather than for patients with uncomplicated forms of coeliac disease (22,56). All patients included in our study had previously diagnosed coeliac disease and were treated with a gluten-free diet with significant clinical effect (no patient had clinically active disease).…”

“…Villous atrophy is not specific to coeliac disease and may accompany several other enteropathies (1,8). Although usually uncomplicated forms of coeliac disease do not primarily lead to significant intestinal dysfunction (12,13), the disease can lead to malabsorption syndrome, including iron, trace element and vitamin deficiencies, and malnutrition. When intestinal function is reduced below the minimum necessary for absorption of macronutrients and/or water and electrolytes, so that intravenous supplementation is required to maintain health and/or growth, we speak of intestinal failure (12,(14)(15)(16)(17)(18).…”