Background/Introduction Coeliac disease (CD) is a chronic immune-mediated disease of the small intestine that occurs in genetically susceptible individuals, characterized by an aberrant immune response to gluten. Originally considered as a malabsorption syndrome of childhood, CD is now recognised as a disease that can be diagnosed at any age, presenting itself through a wide variety of symptoms. Toddlers and young children with coeliac disease commonly present with diarrhoea, constipation, abdominal distension, irritability, malnutrition and other systemic symptoms. An acute presentation of protein losing enteropathy with generalised oedema in coeliac disease with no other manifestations of chronic GI disease is extremely rare and poorly described in published literature.

Aims We describe an unusual case of coeliac disease in a 4-year-old boy, with no preceding history of GI symptoms or malnutrition, presenting acutely with severe hypo-albuminemia and generalised oedema. Our aim is to raise awareness of this commonly prevalent disease in the differential diagnosis of hypo-albuminemia, even in the absence of chronic GI symptoms.

Methods and Subjects A 4-year-old boy was admitted to his local hospital with acute onset generalised oedema. He developed swelling of his legs, face and severe scrotal oedema. He had no other symptoms. He was thriving well with no significant medical background. In the absence of nephrosis and other obvious causes of hypo-albuminemia, he was transferred to tertiary GI centre for further assessment and management. Coeliac serology was not available prior to transfer.

Results During his inpatient stay on the GI unit, blood tests showed a low serum albumin of 14 mg/L, total protein of 33g/L, normal liver function tests and normal inflammatory markers. Urine analysis did not show albuminuria in the nephrotic range. He was catheterised for urinary retention due to severe penile and scrotal oedema. He also needed intravenous treatment with 20% Human albumin. Whilst awaiting results for coeliac serology and other tests for protein-losing enteropathy, he underwent a gastro-duodenoscopy and ileo-colonoscopy as part of GI work-up. The duodenal mucosa showed typical features of coeliac disease with mucosal atrophy and scalloping, following which the coeliac serology/histology were expedited and the patient commenced on a strict gluten-free diet. His coeliac serology was back in 48 hours on request with a significantly elevated TTG IgA level of 17256 u/ml (normal 0–15) and positive endomysial antibodies. Histology confirmed coeliac-type enteropathy. Serology from his local hospital was also subsequently available with a significantly elevated TTG IgA. At follow up, the patient made excellent progress on a gluten-free diet, with normalisation of blood tests.

Conclusions and Summary Acute generalised oedema with hypoalbuminemia may be the first presenting sign of coeliac disease enteropathy in a previously well child. In the absence of other common causes of hypoalbuminemia, testing for coeliac disease should be considered in the primary list of investigations for possible causes for protein losing enteropathy. Rapid coeliac serology is often available in most immunology labs and should be considered in similar acute presentations for a prompt diagnosis and treatment, avoiding unnecessary invasive investigations.