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Peripheral Lymphatic Shunts for Protein-Losing Enteropathy in a Child with THSD1 Mutation: A Case Report
Hatan Mortada1,2, Feras Alshomer3, Hyungjoo Noh4
1Division of Plastic Surgery, Department of Surgery, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
Archives of Plastic Surgery
|August 12, 2026
Summary
Surgical intervention for protein-losing enteropathy (PLE) in a child with THSD1 mutation and lymphedema showed initial success. Lymphatic surgery improved albumin levels, but relapse highlights the need for ongoing management in pediatric patients.
Area of Science:
- Gastroenterology
- Pediatric Surgery
- Genetics
Background:
- Protein-losing enteropathy (PLE) is a rare condition causing protein loss via the GI tract, leading to malnutrition.
- Conventional therapies often fail in complex pediatric cases, necessitating alternative treatment strategies.
- Lymphatic dysfunction is increasingly recognized as a contributor to PLE.
Purpose of the Study:
- To report the successful surgical management of a pediatric patient with chronic lower limb lymphedema and PLE.
- To investigate the efficacy of lymphatic surgery in a patient with a THSD1 mutation unresponsive to medical treatment.
- To highlight the potential of surgical intervention for PLE secondary to lymphatic dysfunction.
Main Methods:
- Case report of a 7-year-old male with THSD1 mutation, lymphedema, and PLE.
- Failed medical management including nutritional support and albumin infusions.
- Surgical intervention involving lymphovenous bypass and lymph node-vein anastomosis (LNVA).
Main Results:
- Postoperative improvement in serum albumin from 1.5 to 3.2 g/dL.
- Reduction in lower limb lymphedema circumference.
- Normalization of alpha-1 antitrypsin levels, indicating reduced protein loss.
- Relapse of hypoalbuminemia at 3-year follow-up after an upper respiratory infection.
Conclusions:
- Lymphatic surgery can be effective in managing PLE associated with lymphatic dysfunction when medical treatments fail.
- This case supports the potential of surgical approaches for THSD1-related PLE and lymphedema.
- Further research is needed to confirm long-term efficacy and explore additional interventions for pediatric patients.
