Protein-losing enteropathy (PLE) is a multifactorial syndrome involving pathologic loss of serum proteins through the gastrointestinal tract, occurring in both acquired and congenital conditions. Loss occurs via the following 3 main mechanisms: mucosal erosion, increased epithelial permeability, and intestinal lymphangiectasia. Key features include hypoproteinemia, edema, recurrent infections, nutritional deficiencies, and gastrointestinal symptoms. Congenital PLE arises from diverse monogenic defects, but its genetic basis, clinical spectrum, and optimal treatment remain poorly defined.
Protein-losing enteropathy (PLE) is a multifactorial syndrome involving pathologic loss of serum proteins through the gastrointestinal tract, occurring in both acquired and congenital conditions. Loss occurs via the following 3 main mechanisms: mucosal erosion, increased epithelial permeability, and intestinal lymphangiectasia. Key features include hypoproteinemia, edema, recurrent infections, nutritional deficiencies, and gastrointestinal symptoms. Congenital PLE arises from diverse monogenic defects, but its genetic basis, clinical spectrum, and optimal treatment remain poorly defined.