ESPE Abstracts

Background: Protein-losing enteropathy (PLE) is a complex life-threatening complication that occurs in 5-15% of patients who undergo Fontan procedure to palliate a functional or anatomic single ventricle. Patients with PLE suffer from enteric protein loss, hypoproteinemia, hypoalbuminemia and electrolyte alterations. Enteral budesonide is widely recognized as the corticosteroid of choice to treat gut inflammation underlying PLE for its strong local anti-inflammatory activity with relatively low systemic effect.

Case Report: We describe a child affected by hypoplastic left heart syndrome who underwent multiple cardiac interventions and terminated his surgical journey with Fontan operation at the age of 3 years. As a consequence, he developed a PLE that needed a treatment with budesonide and a bimonthly supplementation with parenteral albumin. He came to our attention at the age of 5 years for an auxological evaluation. Clinical examination showed short stature (-2.02 SDS), cushingoid facies, swollen abdomen and hepatomegaly. Bone age was 2 years delayed compared to his chronological age. Laboratory assessment evidenced calcium deficiency (7.1 mg/dL), hyperparathyroidism, hypovitaminosis D, suppressed fasting morning cortisol with concomitant low ACTH and increased IGF-1. We started a supplementation with calcium and vitamin D and tapered off budesonide to reduce its possible effect as an exogenous steoroid on growth. Nevertheless, after one year we observed a further slowing in stature (-2.56 SDS) with a growth velocity of -3.76 SDS. Five months later, he developed hypocalcemic tetany (ionized Ca: 0.63 mg/dL) which required emergency admission and parenteral administration of calcium gluconate. Subsequently, calcium and vitamin D treatments were modified to obtain an adequate calcium level which remained stable over time.

Conclusion: Endocrinological alterations are common consequences of PLE. While the presence of a disrupted intestinal mucosa causes malabsorption, and this can lead to severe hypocalcemia and hypovitaminosis D, treatment with budesonide, albeit with reduced systemic absorption, might produce adrenal suppression, cushingoid features and growth failure. Therefore, children with PLE treated with budesonide should perform routinely an endocrinological evaluation to prevent and/or treat endocrinological comorbidities.