Elisa Benelli

Coeliac disease in the ERA of the new ESPGHAN and BSPGHAN guidelines: a prospective cohort study

Objective To evaluate the consequences of the last European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) and British Society of Paediatric Gastroenterology, Hepatology and Nutrition (BSPGHAN) guidelines for the diagnosis of coeliac disease (CD) by means of a prospective study. Design Prospective cohort study. Setting Institute for Maternal and Child Health IRCCS Burlo Garofolo (Trieste, Italy). Patients Children diagnosed with CD without a duodenal biopsy (group 1), following the last ESPGHAN and BSPGHAN guidelines, and children diagnosed with a duodenal biopsy, matched for sex, age and year of diagnosis (group 2), were prospectively enrolled over a 3-year period. All patients were put on a gluten-free diet (GFD) and were followed up for clinical conditions and laboratory testing at 6 months every year since diagnosis (median follow up: 1.9 years). Outcome measures Resolution of symptoms, body mass index, laboratory testing (haemoglobin, anti-transglutaminase IgA), adherence to a GFD, quality of life, and supplementary post-diagnosis medical consultations. Results 51 out of 468 (11%) patients were diagnosed without a duodenal biopsy (group 1; median age 2.1 years) and matched to 92 patients diagnosed with a biopsy (group 2; median age 2.4 years). At the end of follow-up the two groups were statistically comparable in terms of clinical and nutritional status, anti-transglutaminase IgA antibody titres, quality of life, adherence to a GFD, and number of supplementary medical consultations. Conclusions On the basis of this prospective study, diagnosis of CD can be reliably performed without a duodenal biopsy in approximately 11% of cases. At least during a medium-term follow-up, this approach has no negative consequences relating to clinical remission, adherence to diet, and quality of life of children with CD.

Omalizumab for chronic urticaria.

The Authors Reply: We agree with Little et al. that clinicians should be aware of the risk of cardiovascular morbidity and limit the dose to the heart when performing radiotherapy for breast cancer. As pointed out by Liu et al., many radiotherapy centers already do this by means of techniques such as breath hold, by treating patients in the prone position (as indicated by Formenti et al.), or by intraoperative radiotherapy (as indicated by Vaidya et al.). We agree with Liu et al. that a comparison of benefits and risks is important in radiotherapy for breast cancer. As discussed in our article, the results of our study provide reassurance for the majority of patients that their absolute risk of heart disease from radiotherapy is likely to be small, as compared with the probable absolute benefit from radiotherapy.1 Our results can also be used to identify the minority of patients for whom the benefits of radiotherapy do not clearly outweigh the risks. In the cohort study2 preceding our case–control study, we compared patients who underwent radiotherapy for the treatment of cancer of the left breast with those treated for cancer of the right breast, and we found an increased risk of aortic valvular disease among those with cancer of the left breast, with an incidence-rate ratio of 1.70 (95% CI, 1.14 to 2.53; P = 0.009). Valvular disease was not a case-defining event in our case–control study, but in response to Toutouzas et al., we note that the study of valvular disease will require further work. Formenti et al. comment on the method we used to estimate individual patient doses. Almost all the women who were included in our study were treated before the era of radiotherapy planning with the use of patient-specific scans based on CT, so our dose estimates could not take into account differences in anatomy. If we had been able to do so, it is likely that our estimated risks per gray would have been somewhat larger, but we do not know by how much. In order to identify the best possible treatment for each patient, clinicians need information on the absolute size of the benefits and on the absolute size of the risks. Our research group is continuing to develop methods to estimate the consequences of the cardiac doses delivered by old radiotherapy regimens, so that the experience of patients treated in the past can be used to provide clinicians with information on the absolute magnitude of the risks of current cancer treatments.

From skin to gut

S evere iron deficiency anemia was diagnosed in a 3-year-old boy (hemoglobin 6.4 g/dL, hematocrit 25.7%, mean corpuscular volume 52 fL, ferritin 2.5 ng/mL). His medical history was unremarkable except for the presence, since birth, of one large subcutaneous swelling on right ankle (Figure 1; available at www.jpeds.com) and multiple small (5-20 mm), soft dark lesions on legs and scalp (Figure 2; available at www.jpeds.com). The lesions were consistent with vascular malformation on magnetic resonance imaging but did not respond to propranolol therapy and relapsed after surgical removal. To rule out a gastrointestinal bleeding, we performed a gastroscopy, a colonoscopy, and a videocapsule endoscopy, which showed the presence of multiple soft, dark lesions in the entire gastrointestinal tract (Figure 3). The diagnosis was blue rubber bleb nevus syndrome, which is a rare sporadic condition characterized by multiple venous malformations involving the skin, gastrointestinal tract, and, sometimes, central nervous system, eye, kidney, bladder, heart, thyroid, lung, liver, and spleen. Skin lesions typically are present at birth but can increase in number and size with age; gastrointestinal manifestations instead usually develop later. No malignant transformation has been reported, but massive gastrointestinal hemorrhage, intussusceptions, and volvulus could occur. We ruled out cardiac, ocular, and abdominal involvement,