Pediatric Protein-Losing Enteropathy Clinical Presentation

Updated: Jul 25, 2017
  • Author: Simon S Rabinowitz, MD, PhD, FAAP; Chief Editor: Carmen Cuffari, MD  more...
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Presentation

History

Most commonly, protein-losing enteropathy (PLE) presents with edema. When analyzing the cause of edema, certain aspects of the history and physical examination should be emphasized.

A complete dietary history should be obtained to evaluate for possible protein malnutrition, which results in diminished albumin synthesis (kwashiorkor).

Query about possible renal diseases (increased protein loss) or hepatic diseases (decreased protein synthesis) that could also result in hypoalbuminemia. Nephrotic syndrome or liver disease are often the primary cause of hypoalbuminemia. However, either can also increase the pressure in the intra-abdominal lymphatic system and thus also yield PLE.

Abnormal urinary tract symptoms (urinary frequency, urine color, pain with urination) or a history of high blood pressure should lead to an evaluation for renal disease.

Alcohol consumption or a previous history of hepatitis, fatigue, or jaundice should lead to an evaluation for liver disease.

Dermatologic conditions, including significant burns, can also account for albumin losses that can yield edema.

Obtain a complete GI history, looking for any suggestions of diarrhea, hematochezia, and abdominal issues (ie, gut sources of excessive protein loss).

Primary lymphangiectasia may be long-standing; therefore, questions about symptoms may date back to the neonatal period. Query the patient or parents about other lymphatic abnormalities, especially asymmetric edema that might have been present in infancy.

Obtain a cardiac history, including congenital heart disease, prior episodes of pericarditis, serious streptococcal infection, prior heart surgery and the presence of either chylothorax or chest tubes.

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Physical

Begin the physical examination by taking appropriate anthropometric measurements, including the following:

  • Head circumference
  • Height
  • Weight
  • Triceps skinfold thickness as an assessment of the nutritional status (if available)

Emphasize that weight alone may be misleading because fluid retention can occur in the setting of hypoalbuminemia.

Examine the patient for evidence of the following:

  • Acute liver disease (eg, enlarged, firm, nodular liver, and/or tenderness in the right upper quadrant)
  • Chronic liver disease (eg, liver findings mentioned above along with jaundice, splenomegaly, abdominal wall venous prominence due to collateral circulation)

Include in the assessment of cardiac function evaluation for the following, which suggest increased right-sided pressures in the heart as the cause for PLE:

  • Hepatosplenomegaly
  • Lower lobe rales (bilateral)
  • Jugular vein distention 

The finding of elevated blood pressure may suggest renal or cardiac disease.

GI findings compatible with PLE include the following:

  • Abdominal tenderness or distension, including dilated, tender loops of bowel
  • Macroscopic or microscopic blood and mucus determined on rectal examination

Localized edema is suggestive of primary intestinal lymphangiectasia

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Causes

As indicated above, many disease processes can lead to PLE. The following is an approach to categorizing the underlying etiology.

Lymphatic losses are as follows:

  • Enteric lymphatic obstruction
    • Primary enteric lymphatic obstruction
      • Primary intestinal lymphangiectasia
      • Secondary intestinal lymphangiectasia (eg, mesointestinal fibrosis) [18]  
      • Whipple disease
      • Malrotation/volvulus                                 
      • Tuberculosis                                       
      • Sarcoidosis                                       
      • Amyloidosis [19]  
      • Radiation enteritis
      • Retroperitoneal fibrosis or tumor
      • Arsenic poisoning
      • Secondary to unusual causes of bowel infiltration - Leukemia, [20]  Gaucher disease, [21]  Langerhans cell histiocytosis, [22]  and infantile systemic hyalinosis syndrome [23]  
    • Cardiac causes of increased systemic venous pressure

Genetic causes include the following:

  • Congenital disorders of glycosylation (may involve enterocyte disruption without any ulceration)
  • Juvenile polyposis  [26]
  • Mutations in plasmalemma vesicle associated protein (PLVAP) may lead to deletion of the diaphragms of endothelial fenestrae, resulting in plasma protein extravasation and PLE [4]

Inflammation of the GI tract includes the following:

  • Infectious causes involving enterocyte disruption without ulceration                
  • Infectious causes with mucosal ulceration
    • Bacterial enterocolitis - Salmonellae, Shigella, Yersinia, Campylobacter, some forms of Escherichia coli
    • Toxin mediated enterocolitis - Clostridia difficile toxin, some forms of E coli and Shigella
    • Viral mediated enterocolitis - Cytomegalovirus (most commonly), herpes
    • Tuberculosis
  • Noninfectious causes with mucosal ulceration
  • Noninfectious causes with breakdown of enterocyte barrier
    • Celiac disease (Gluten sensitive enteropathy)
    • Hypertrophic gastropathy (Menetrier disease)
    • Juvenile rheumatoid arthritis
    • Malnutrition
    • Systemic lupus erythematosus (SLE): Protein-losing gastroenteropathy may be the first manifestation of SLE in children. This is associated with hypocomplementemia.  [31]
    • Systemic phenobarbital hypersensitivity
    • Tropical sprue
    • Severe iron deficiency [32]
    • Budd Chiari syndrome/hepatic venous outlet obstruction/post-liver transplant [33]
    • Collagenous colitis/gastritis [34]
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Physical Examination

Edema is often noted, especially when the albumin becomes quite low.

Stigmata of heart disease, enteropathy, and infections, which can be limited to the GI tract or generalized, may also be suggested by physical findings.

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