Aims
To raise awareness of the association of EoE with CTD. Risk of EoE is up to 8-fold increase in CTD population(1). Recognizing undiagnosed CTD is of the utmost importance for more favorable outcomes. There is also a role for closer follow up of EoE disease in CTD patients, because of greater risks for more diffused eosinophilic extra-esophageal gastrointestinal disease and resistance to treatments(2).
Methods
Patient is a 19M and had 5 admissions for food bolus in 8 years. All of them required gastroscopy to resolve or assess the esophagus. Patient had clinical presentation related to Marfan Syndrome (MFS) and Ehlers Danlos Syndrome (EDS) like tall stature, high-arched palate, pectus incavatum and extensive striae over body. But without typical presentation like long extremities, heart murmur, ectopia lentis, vision issues and flat feet (pes planus) in MFS or hypermobility of joints and hyperflexibility of skin in EDS.
Results
Patient had been investigated for MFS at younger age but results were negative. Echocardiogram in 2020 was normal. All 5 gastroscopies were normal, food bolus passed or removed, biopsies had been taken in all gastroscopies and histology from all biopsies showed traditional EoE pictures. 4 out of 5 esophageal biopsies confirmed EoE with the highest count of 300 eosinophils/hpf. He also had positive family history of a sister with confirmed EDS.
Conclusion
Patient has been called back for further genetic testing for congenital CTD and screening for different features of CTD with pathology and imaging. We suspect patient to have congenital CTD with features from a few CTD variants. We need to confirm the genetic diagnosis and prevent unfavourable preventable outcomes. Early multi-disciplinary involvement is essential to control symptoms and minimise systemic involvement.