Eosinophilic esophagitis: comorbidities and atopic disease in Nevada.

Eosinophilic esophagitis (EoE) is a rare, immune-mediated illness. We aimed to examine the comorbidities and sensitization patterns associated with an EoE diagnosis in Nevada. The study goal was two-fold: to determine the most common EoE comorbidities and sequela in the state of Nevada using healthcare utilization records across all settings and to determine the most common food and aeroallergens in histologically positive EoE pediatric patients using clinical sensitization data. Esophageal obstruction/stricture was the most frequently reported diagnosis in adults with EoE (29.5%). Among pediatrics, the highest ranking comorbidities included asthma (13.4%); diseases of the stomach, duodenum, and intestine (7.26%); allergies (7.01%); and gastroesophageal reflux disease (GERD) (3.69%). Additionally, the top sensitizations reported in histologically positive EoE patients were largely pollen related (82.9%). Atopic disease and specifically food allergens are commonly reported as comorbid conditions with EoE in the literature. However, our clinical pediatric data set from this study revealed that aeroallergen sensitizations far exceeded that of food allergens (82.9% aero-positive vs. 17.1% dood positive). The high presence of esophageal stricture/obstruction in adults could be indicative of late diagnosis; in addition, the aeroallergen sensitization in children could suggest different clinical management techniques necessary may be needed for this disease. Education among healthcare providers regarding the presence of aeroallergen sensitization in this population may result in earlier diagnoses and help reduce morbidity and the cost from this disease.

Cost of chronic inflammatory disease: The impact of eosinophilic esophagitis in Nevada.

OBJECTIVES: The cost of treating the rare eosinophilic esophagitis (EoE) disease and its impact on patients' quality of life have not been well documented in the literature. This study seeks to fill this gap by comparing the cost of EoE with other well-known inflammatory diseases, including Crohn's disease (CD) and celiac disease (CeD). METHODS: A Mann-Whitney U test and multiple logistic regression were used to examine the cost of EoE in the state of Nevada across all hospital settings and its impact on quality of life compared with CD and CeD. RESULTS: Several factors were associated with the overall cost of EoE in Nevada, including patients' age, sex and region (P < 0.001). EoE was significantly more expensive to treat in the pediatric group ($4001 EoE; $985 CD; $856 CeD), among men ($2532 EoE; $1500 CD; $1724 CeD), among those residing in the southern region of Nevada ($4501 EoE; $2538 CD; $1888 CeD), and among patients seeking medical care from outpatient clinics ($3298 EoE; $741 CD; $1686 CeD) (P < 0.001). Age, sex, region and hospital setting were all associated with having a positive EoE record compared with CeD or CD (P < 0.001). CONCLUSIONS: Data from this study indicate that the EoE burden is significantly higher in cost for certain demographics and regions compared with CD and CeD in the state of Nevada, specifically among pediatric and male patients. These differences suggest that clinicians may encounter similar issues when treating EoE.

A Novel Case of Biliary Atresia in a Premature Neonate With 1p36 Deletion Syndrome.

We describe the case of a premature male neonate diagnosed with biliary atresia who was found to have chromosome 1p36 deletion syndrome. Our patient was born prematurely, at a gestational age of 28 weeks. Pregnancy was complicated by advanced maternal age, gestational hypertension, and intrauterine growth restriction. Physical examination revealed several dysmorphic features, prompting a genetic evaluation, which revealed chromosome 1p36 deletion syndrome. At week 7 of life, he was found to have acholic stools. Direct bilirubin was found to be elevated despite discontinuation of total parenteral nutrition at 3 weeks of life, thus raising the suspicion for biliary atresia. Biliary atresia was confirmed by constellation of clinical, imaging and intraoperative findings. First reported in 1996, 1p36 deletion syndrome has been researched increasingly and several new phenotypic associations have been reported over the years. While attempts at linking specific phenotypic abnormalities with individual gene(s) deletion(s) are being made, deletion patterns that would affect specific organ system or function remain to be fully understood. Thus, clinicians currently rely on reports of previously identified abnormalities. To our knowledge, our patient is the first report of biliary atresia in a patient with chromosome 1p36 deletion syndrome. It is important to determine the etiology of the cholestasis, when present, while caring for premature neonates with 1p36 deletion syndrome. This is necessary to avoid assuming that the cholestasis is arising from total parenteral nutrition administration and not from other gastrointestinal anomalies including biliary atresia, which is a time-sensitive diagnosis.

Genetic determinants of pediatric inflammatory bowel disease: is age of onset genetically determined?

Inflammatory bowel disease (IBD) is thought to develop as a result of dysregulation of the immune response to normal gut flora in a genetically susceptible host. Approximately 25% of incident cases of IBD occur during childhood and the rest occur throughout adulthood, peaking in the second and third decades of life. What determines the age of onset remains unexplained currently. Studying early-onset presentation of complex diseases such as IBD is appealing to geneticists and scientists alike because of the expectation that these efforts will increase the probability of finding novel risk variants. Genome-wide association studies (GWAS) have yielded more susceptible loci in IBD than in any other complex common disease studied. Using 35 confirmed Crohn's disease risk alleles from adult studies, a recent pediatric replication study detected no significant association between risk score and age of onset through age 30, indicating age of onset does not have any impact on increased disease development in IBD. The first GWAS study using an exclusively pediatric IBD cohort found 2 novel risk variants that were not previously reported in predominately adult GWAS studies. However, during the data-mining of adult GWAS, these 2 novel loci (TNFRSF6 and PSMG1) were found with nominal significance suggesting that these risk loci are not restricted to early-onset CD cases. These analyses illustrate that the genetic effects of established CD risk variants is similar in early- and late-onset CD. However, the quest to find early-onset IBD risk variants is continuing. As such, GWAS studies involving large pediatric-onset CD cohorts and early-onset ulcerative colitis presentations are presently underway. A future joint analysis of genome-wide association data of early- and late-onset cohorts will likely reveal more IBD risk variants since the power to detect small effects of genes increases.