Monitoring gluten-free diet in coeliac patients with Down's syndrome.

Down’s syndrome (DS) is the most common chromosomal abnormality among live-born infants, affecting 1 : 800 newborns worldwide (Pueschel et al., 1995). The impairment of the immunological system has been associated with a higher incidence of autoimmune disease [e.g. thyroiditis and coeliac disease (CD)] (Kusters et al., 2009). The prevalence of CD among apparently healthy blood donors in Southern Brazil is approximately 1 : 417 (Pereira et al., 2006) and, in a previous study, we demonstrated a prevalence of CD of 5.6% in DS patients living in South Brazil (Nisihara et al., 2005). A wide spectrum of signs and symptoms, related to the gastrointestinal tract, as well as extra-intestinal manifestations, may be presented by patients without the classical clinical form (Mubarak et al., 2012). The majority of CD patients respond positively to lifelong gluten-free diet (GFD), which is the decisive therapy. Compliance with a permanent GFD is essential to prevent long-term complications and leads to the disappearance of symptoms (Hill et al., 2005). However, this is difficult for children to maintain, especially for those with DS. In this context, few data exist about the effects of GFD in DS patients; therefore, we evaluated the compliance of GFD in DS patients with CD, as well as the impact of this treatment on their life. The present study was approved by the Ethical Committee of the Federal University of Paran a. Nine DS patients diagnosed with CD (six male, three female, median age 17 years, range 12–50 years), and seen by the Down Syndrome Clinic of the Clinical Hospital, Federal University of Paran a (Curitiba, Brazil), were included in the study. A diagnosis of CD was based on the serological determination of immunoglobulin A antiendomysium antibodies (IgA-EmA) and confirmed on duodenal biopsies. At diagnosis, all patients showed typical and atypical symptoms for CD, such as anaemia (42.8%), diarrhoea (77.8%) and abdominal distension (55.5%), amongst others (Table 1). After diagnosis, the patients and their relatives were informed by a paediatrician and a nutritionist about CD and how to adhere to a GFD. Seven patients were previously diagnosed as having Hashimoto’s thyroiditis. Follow-up of the patients consisted of interviews, clinical examination and serological tests with respect to IgA-EmA. GFD compliance was evaluated by the use of validated questionnaires. All the evaluations were carried out by the same physician once a month, every 6 months and and once a year after diagnosis Seven patients (77.8%) with strict adherence to a GFD presented total or partial remission of symptoms such as anaemia, diarrhoea and abdominal pain and, once a year after diagnosis and treatment, had negative serological tests. The caregivers related improvement in their daily routine, with less irritability (66.6%), as well as improved behaviour. The two patients with non-adherence to GFD were older (18 and 50 years), were symptomatic when ingesting gluten, and remained with a positive IgA-EmA (titre 1 : 80 in both cases). Seven patients had a previous diagnosis of Hashimoto’s thyroiditis and were treated with levothyroxine. After GFD, five of them (71.4%) presented better control of the thyroid disease with a decrease in daily medication (Table 1). Coeliac Disease may occur with mild and/or atypical symptoms and, when patients with DS have CD, the clinical signs and symptoms can mistakenly be attributed to DS generating long delays between the onset of symptoms and correct diagnosis of the disease. Adherence to a strict GFD is indispensable but not simple. Recently, it has been reported that individuals with CD have a diminished quality of life, especially with respect to the social aspects of life (Lee et al., 2012). As a result of a cognitive deficit, the DS patient can have additional difficulties in adapting to GFD, as well as in understanding the disease and its restrictions. In this context, we attest to the value of a detailed explanation concerning CD to the parents, including how to perform GFD (benefits, charges, care), stressing that this will be for the rest of their lives. The DS patients who presented the best clinical improvement were those whose families understood the treatment and were committed to patient care. On the other hand, the two older DS patients showing noncompliance with a GFD had elderly parents who showed less understanding about CD and GFD. It is known that even foods and medications containing gluten in small quantities may be harmful. At the time of diagnosis, the majority of our patients presented weight loss, anaemia and evidence of overt vitamin/mineral deficiencies. In our study, a high concomitance of thyroid disease and