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Navigating Protein-Losing Enteropathy: A Stepwise Approach for Primary Care Clinicians
Stephanie A Saey1, Vijayvardhan Kamalumpundi1, Adam C Bledsoe2
1Department of Internal Medicine, Mayo Clinic, Rochester, MN.
Mayo Clinic Proceedings
|August 3, 2026
Summary
Protein-losing enteropathy (PLE) is a rare gastrointestinal disorder causing excessive protein loss. Early diagnosis and management are crucial for addressing complications and identifying underlying causes.
Area of Science:
- Gastroenterology
- Internal Medicine
- Rare Diseases
Background:
- Protein-losing enteropathy (PLE) is a rare syndrome of excessive serum protein loss via the GI tract.
- Over 60 conditions are linked to PLE, often presenting nonspecifically with edema, diarrhea, or malnutrition, delaying diagnosis.
- PLE results from mucosal injury or lymphatic dysfunction.
Purpose of the Study:
- To provide a practical overview of protein-losing enteropathy.
- To discuss pathophysiologic mechanisms, clinical features, and diagnostic strategies.
- To outline indications for subspecialty referral in PLE cases.
Main Methods:
- Review of existing literature on protein-losing enteropathy.
- Exclusion of hepatic, renal, and nutritional causes.
- Targeted diagnostic testing including stool α1-antitrypsin and endoscopy.
Main Results:
- PLE is associated with diverse conditions and nonspecific symptoms.
- Diagnostic evaluation involves excluding other causes and specific tests.
- Early identification facilitates management of complications and secondary causes.
Conclusions:
- Prompt recognition and management of PLE are vital.
- Effective evaluation involves a systematic approach to diagnosis.
- Identifying and treating secondary causes can lead to reversible outcomes.
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