Lysosomal acid lipase deficiency and eosinophilic esophagitis in an adolescent - diagnostic and management in the combination of two orphan diseases

This publication presents a rare, previously unreported clinical case of comorbidity between the orphan disease lysosomal acid lipase deficiency (LALD) and eosinophilic esophagitis (EoE). LALD is a progressive systemic disease that leads to lipid accumulation in organs and tissues, primarily affecting the liver and cardiovascular system. EoE is a chronic immune-mediated disease of the esophagus, characterized by severe eosinophilic inflammation of the esophageal mucosa and symptoms of esophageal dysfunction, often associated with various comorbid allergic diseases. Based on international publications, an analysis of changes detected during EGDS in patients with LALD is conducted. This case report demonstrates the value of EGDS in children with this disease. The endoscopic and morphological changes detected are highlighted. Current treatment options for LALD and EoE in children are described.

Lysosomal Acid Lipase Deficiency, eosinophilic esophagitis, children upper endoscopy, histological features, orphan disease

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