Anemia and celiac disease in a patient with Down syndrome

Abstract Down syndrome (DS) is associated with an increased risk of celiac disease (CD) than that found in general population. An adolescent girl with DS and CD presenting with severe anaemia is reported. A 13 year-old girl was admitted to hospital for anaemia and a 4 week-history of asthenia, anorexia, and disturbed bowel habit. Her past medical history was remarkable for hypermenorrhea and occasional vomiting. Heart rate was 106 beats/min and blood pressure 112/48 mmHg. On physical exam she was pale and a systolic murmur was heard. Blood tests depicted a severe hypochromic normocytic anaemia with haemoglobin values of 4,7 g/dL Gastrointestinal bleeding was ruled out on the basis of several image studies and a bone marrow study was also normal. Iron supplement with ferrous sulphate was prescribed. A month later she was readmitted to hospital for abdominal pain, vomiting and diarrhoea. Serum endomysium antibodies and tissue transglutaminase antibodies were found to be positive and an intestinal biopsy confirmed the diagnosis of CD. She was started on a gluten-free diet and the iron supplement was maintained. She subsequently followed a favourable clinical course with cessation of gastrointestinal symptoms and correction of the anaemia. Several authors have suggested that people with DS should be routinely screened for CD even if they are asymptomatic. Moreover, the existence of CD should be specially considered in people with DS who present with gastrointestinal symptoms or anaemia of unclear aetiologies.