Disease Information for Primary protein losing enteropathy syndrome

Clinical Manifestations
Signs & Symptoms
Edema Children
Bilateral ankle swelling
Bilateral leg edema/swelling
Acute Diarrhea
Acute Diarrhea in Children
Chronic Diarrhea in a Child
Diarrhea in Children
Diarrhea, chronic
Poor weight gain/child
Edema of Lower Extremities
Dullness to percussion lung base
Localized dullness to percussion
Lung signs/abnormality
Growth/development delay
Neonatal edema/anasarca
Weight gain
Weight Loss
Bilateral Eyelid Edema
Periorbital edema/Puffy eyes
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Sex & Age Groups
Laboratory Tests
Abnormal Lab Findings - Decreased
Albumin, serum (Lab)
Alpha-1-antitrypsin globulin level (Lab)
Calcium, serum (Lab)
Cholesterol (Lab)
Copper, serum (Lab)
Gamma globulin (Lab)
Globulin, serum (Lab)
Hematocrit (Lab)
Hemoglobin (Lab)
IGA/Immunoglobulin A (Lab)
IGG/Immunoglobulin G (Lab)
Prealbumin levels (labs)
RBC/Red Blood Count (Lab)
Thyroid Binding Globulin (Lab)
Thyroxin/T4 (Lab)
TIBC/Total Iron Binding capacity (Lab)
Total Protein, serum (Lab)
Abnormal Lab Findings - Increased
STOOL Alpha-trypsin/quantitative
Diagnostic Test Results
Other Tests & Procedures
TEST/D-Xylose absorption abnormal
BX/Intestinal biopsy/Dilated lymphatics
BX/Intestinal biopsy/ileum/ abnormal
Isotope Scan
Isotope/Tagged I-131/albumin injection/fecal increased.
Isotope/Tagged PVP injection/fecal increase
X-RAY With contrast
SBS/Mucosal folds thickened, intestinal (Xray)
SBS/Valvulae conniventes thickened (Xray)
UGI/Duodenum thickened folds
Associated Diseases & Rule outs
Rule Outs
Associated Disease & Complications
Growth retardation/failure
Hypoalbuminemia Hypoproteinemia
Hypogammaglobulinemia, acquired
Intestine involvement/manifestaion
Peritoneal Effusion
Primary protein losing enteropathy/lymphectasia
Protein losing enteropathy
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
CLASS/Intestinal disorder (ex)
CLASS/Intestinal/stomach/gut (category)
Pathophysiology/Protein leak into gut
Pathophysiology/Hypercatabolism/IGG/Gamma globulin
PROCESS/Hereditary/Non hereditory sets
PROCESS/Hereditofamilial (category)
PROCESS/Reference organ/system (category)
PROCESS/Vegetative-Autonomic/Endocrine (category)
Enteropathies Exudative, Enteropathies Protein Losing, Enteropathy Exudative, enteropathy protein losing, Exudative Enteropathies, Exudative enteropathy, Exudative enteropathy (disorder), PLE, PLE Protein losing enteropathy, PLE Protn losing enteropathy, Protein Losing Enteropathies, protein losing enteropathy, Protein losing enteropathy (disorder), Protein losing enteropathy syndrome, Synonym/Enteropathy, hypercatabolic protein losing, Synonym/Enteropathy, lymphangectatic protein losing, Synonym/Gordon's enteropathy/lymphangiectasia, Synonym/Intestinal lymphangectasia, Synonym/Lymphangectasia, intestinal
Other Treatments
TX/Diet restriction treatment.
TX/Medium chain triglycerides/diet limit

Waldmann Disease; Dysproteinemia, Familial; Enteropathy, Hypercatabolic Protein-Losing; Familial Hypoproteinemia with Lymphangietatic Enteropathy; Hypoproteinemia, Idiopathic; Intestinal Lymphangiectasia; Intestinal Lymphangiectasis; Lymphangiectasia, Primary Intestinal;

Lymphangiectasis, Primary Intestinal; Lymphangiectatic Protein-Losing Enteropathy; Lymphedema, Neonatal due to Exudative Enteropathy; Protein-Losing Enteropathy Secondary to Congestive Heart Failure; Waldmann Disease is a rare digestive disorder characterized by abnormally enlarged (dilatation) lymph vessels supplying the lining (lamina propria) of the small intestine; The main symptoms are abdominal discomfort and swelling of the limbs; The disorder may be present at birth (congenital) or acquired; [nord 2005]-------------------------------------------------Hypoalbuminemia and an elevated fecal 1-antitrypsin level; The normal intact gut epithelium prevents the loss of serum proteins; Proteins may be lost through one of three mechanisms: (1) mucosal disease with ulceration, resulting in the loss of proteins across the disrupted mucosal surface; (2) lymphatic obstruction, resulting in the loss of protein-rich chylous fluid from mucosal lacteals; and (3) idiopathic change in permeability of mucosal capillaries and conductance of interstitium, resulting in "weeping" of protein-rich fluid from the mucosal surface; Hypoalbuminemia is the sine qua non of protein-losing enteropathy; However, a number of other serum proteins such as 1-antitrypsin also are lost from the gut epithelium; In protein-losing enteropathy caused by lymphatic obstruction, loss of lymphatic fluid commonly results in lymphocytopenia (< 1000/mcL), hypoglobulinemia, and hypocholesterolemia; In most cases, protein-losing enteropathy is recognized as a sequela of a known gastrointestinal disorder; Protein-losing enteropathy is confirmed by determining the gut 1-antitrypsin clearance (24-hour volume of feces x stool concentration of 1-antitrypsin ÷ serum 1-antitrypsin concentration); A clearance of more than 13 mL/24 h is abnormal; Laboratory evaluation of protein-losing enteropathy includes serum protein electrophoresis, lymphocyte count, and serum cholesterol to look for evidence of lymphatic obstruction; Serum ANA and C3 levels are useful to screen for autoimmune disorders; Stool samples should be examined for ova and parasites;


External Links Related to Primary protein losing enteropathy syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)