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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.
Insights
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.
Abstract:
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.
