Peripheral Lymphatic Shunts for Protein-Losing Enteropathy in a Child with THSD1 Mutation: A Case Report

Protein-losing enteropathy (PLE) is a rare disorder characterized by abnormal protein loss through the gastrointestinal tract, often leading to hypoalbuminemia and malnutrition. This case report describes the successful surgical management of chronic lower limb lymphedema and PLE in a 7-year-old male with a thrombospondin type 1 domain-containing 1 (THSD1) mutation, unresponsive to conventional therapies. Despite aggressive nutritional support, including albumin infusions, the patient experienced persistent hypoalbuminemia and ongoing protein loss. Imaging revealed significant lymphatic dysfunction, prompting lymphovenous bypass and lymph node-vein anastomosis (LNVA). Postoperatively, serum albumin levels improved from 1.5 to 3.2 g/dL, limb circumference decreased, and alpha-1 antitrypsin levels normalized. However, a 3-year follow-up revealed a relapse of hypoalbuminemia following an upper respiratory infection, underscoring the need for additional interventions in growing pediatric patients. This case strengthens the potential of lymphatic surgery in addressing PLE-related lymphatic dysfunction when medical treatments fail and emphasizes the need for further research to confirm the efficacy of this approach.