A Diagnosis of Eosinophilic Esophagitis in a Toddler with Cystic Fibrosis Rebecca Wukovich, M.D. Fellow, Pediatric Pulmonology University Hospitals Cleveland Medical Center

There are no relationships to disclose related to this presentation Presenter Disclosure There are no relationships to disclose related to this presentation

Case Presentation 16 mos. M with cystic fibrosis (F508del/G542X) admitted for cystic fibrosis exacerbation and weight loss (weight 11%ile) Presenting History Pancreatic insufficiency Failure to thrive Reflux, constipation, oral aversion Throat cx: E. coli, Enterobacter, P. aeruginosa Sweat chloride 111, 123 Initial visit weight at 6%ile. Increased to 33%ile at 6 months of age. Over next 10 months had a few measurements of weight loss, mainly poor weight gain. Weight %ile was teens-20s but ultimately at 11%ile at admission. 10mos weight was down to 19%ile and 11%ile at admission at 16mos of age. Noted over time to have frequent spit-ups, vomiting, eventually developed gagging on foods and avoidance of solid foods around a year of age. Pseudomonas was isolated on 3 consecutive throat cx starting at 13 mos of age (3/28, 5/9, 6/27)

Treatment timeline -Started at initial visit on enzymes and salt supplementation -Started on ranitidine just before 3 moths. When ranitidine started- consider Upper GI for vomiting/spit-up if not improved on meds. Did improve briefly but throughout first year continued to have recurrent symptoms of spit-up, abdominal distention, gassiness that would briefly respond to changing ranitidine doses. -Started shortly after 3 months on duocal to add calories. At 5 months started adding butter. Rec starting solids at 5 months. 10 months of age switched to pediasure -Around 13 months noted to be gagging and spitting up solid foods. Speech/OT referral. Also grew classic pseudomonas for the first time on throat cx.

Malnutrition in Cystic Fibrosis Increased Losses Inadequate Intake Increased Needs Inadequate intake- inappropriate food intake (juices), picky eater/dysfunctional feeding, GERD, Food scarcity, food allergy Inadequate absorption/increased losses: malabsorption (CF), vomiting, celiac disease Increased requirements- chronic diseases, chronic or recurrent system infection/chronic respiratory insufficiency, congenital heart disease, food allergies CF infant nutritional guidelines recommend evaluation for co-morbid conditions in pts with failure to gain weight: GERD, CFRD, hepatobiliary disease, infectious enteritis, bacterial overgrowth, Crohn’s dz, celiac dz, ineffective pancreatic enzyme dosing; behavioral evaluation

Evaluation Labs: Bronchoscopy + Lavage Electrolytes, LFTs, CRP, IgE- normal Peripheral eosinophils: 10.6% (0.41x10E3/µL) Bronchoscopy + Lavage Cx: MRSA Cytology: Neutrophils 18% and 41%. No Eos.

Evaluation Endoscopy Furrows Up to 85 eos/HPF in mid esophagus

Eosinophilic Esophagitis Immune-mediated reaction to allergens First described as allergic disease in 1995 Increasing prevalence: 40-90 cases/100,000 Associated with other disorders Asthma Atopic dermatitis Celiac disease Connective tissue disorder

Symptoms Infancy Childhood Adolescence Failure to thrive Feeding dysfunction Vomiting Abdominal pain Dysphagia Odynophagia Food Impaction Failure to thrive- poor weight gain or weight loss Feeding dysfunction: failure to develop normal eating patterns (not advancing past liquids) or adopting coping strategies (refusing solids after eating them previously)

Diagnosis Symptoms of esophageal dysfunction Eosinophilic inflammation: ≥15 eos/HPF limited to esophagus persists despite PPI trial Response to treatment supports diagnosis

Treatment Topical Steroids Systemic Steroids Dietary Adjustments Fluticasone MDI, Swallowed Oral viscous budesonide Systemic Steroids Dietary Adjustments Targeted elimination diet 6 food elimination diet Elemental or amino-acid based formula Endpoints of therapy of EoE include improvements in clinical symptoms and esophageal eosinophilic inflammation- studies assessing treatment use variable definitions of response (1 eos/HPF to 0-6 eos/HPF Systemic Steroids- typically reserved for times when topical steroids are not effective or patients need a rapid improvement in symptoms. Targeted elimination- guide by allergy testing, typically skin prick or patch testing 6 food elimination- removing the six most common known food groups that are triggers of EoE: soy, egg, milk, wheat, nuts, and seafood.

Follow Up Brief improvement in PO intake Weight loss following hospitalization (9%ile) G-tube placed  weight increased to 26%ile Improved endoscopic findings: peak 35 eos/HPF

Discussion Points Eosinophilic disorders are not limited to children with atopy Atypical symptoms may suggest alternate etiologies Failure to respond to interventions should prompt further evaluation

Acknowledgements Cystic Fibrosis Foundation for support from a Third Year Clinical Fellowship Grant

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