A148 SIROLIMUS FOR PRIMARY INTESTINAL LYMPHANGIECTASIA IN A PEDIATRIC PATIENT

Primary intestinal lymphangiectasia (PIL) is a rare digestive disorder characterized by morphologic abnormalities in the intestinal lymphatics resulting in protein losing enteropathy (PLE). PIL usually presents early in childhood with persistent diarrhea, peripheral edema and ascites. Diet is the cornerstone of medical management, along with iv albumin infusions. Octreotide has been used in more severe cases. Altered expression of lymphangiogenesis regulator genes has been demonstrated in PIL. Several reports have suggested that blocking expression of vascular endothelial growth factor (VEGF), a key regulator in lymphangiogenesis, via the mTOR signaling pathway, may have some clinical benefit in PIL. To describe a unique presentation of primary intestinal lymphangiectasia and share our experiences in clinical management, including a novel treatment with sirolimus. Case report and literature review. We present the case of a 12-year-old boy who initially presented at 8 years of age with tetany and hypocalcemia, along with a 4-month history of intermittent abdominal pain, fatigue and weight loss. Initial investigations revealed severe hypovitaminosis D, hypoalbuminemia, hypoglobulinemia and elevated fecal alpha-1-antitrypsin. Upper endoscopy revealed antral nodularity and ulceration and was positive for H.pylori. He was diagnosed with PLE secondary to H.pylori infection and pseudohypoparathyroidism. Due to persistent hypoalbuminemia and lymphopenia after triple therapy, repeat endoscopy was performed. Biopsies showed intestinal lymphangiectasia in the duodenum and video capsule endoscopy revealed jejunal involvement as well and he was diagnosed with PIL. He responded to a high protein, low fat diet with high medium-chain triglyceride (MCT) content and albumin infusions; serum albumin was 32 g/L at maximal response. Octreotide was later initiated due to increasing edema and fatigue, which resulted in clinical and biochemical improvement along with decreased dependence on albumin infusions. Unfortunately, his response waned over time and he presented 4 years later with severe fatigue, edema, frequent stooling, hypoalbuminemia and lymphopenia. Based on reports that mTOR inhibitors may be a promising treatment for PIL, we initiated treatment with sirolimus in July 2018. Despite no significant improvement in albumin levels as of yet, the patient has demonstrated improved energy and his albumin has remained stable despite no intercurrent albumin infusions. We are continuing to optimize dosing and monitor for clinical response to this novel treatment. To the best of our knowledge, this is the first reported case using sirolimus for treatment of PIL refractory to standard medical management. The patient’s prognosis and clinical course remain to be determined. None

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