Malabsorption

Diagnostic Algorithm

Clinical Background

Malabsorption is characterized by the inability to digest or absorb nutrients from the small intestine into the bloodstream and is related to diseases of the pancreas, liver or intestine.

Causes of Malabsorption

  • Inadequate digestion of nutrients
    • Deficiencies of pancreatic enzymes (eg, chronic pancreatitis, pancreatic carcinoma, cystic fibrosis)
    • Impaired synthesis or secretion of bile (eg, biliary obstruction, cirrhosis)
    • Deconjugation of bile salts (eg, blind-loop syndrome)
  • Inadequate absorption of nutrients
    • Shortened bowel or loss of absorptive surface (eg, inflammatory bowel disease [IBD], including ulcerative colitis, Crohn disease, gluten-sensitive enteropathy [Celiac sprue], tropical sprue, lymphoma, surgical loss of functional bowel, blind-loop syndrome, hormonal disorders)
    • Impaired nutrient metabolism (eg, deficiency of intestinal disaccharidases, lactase deficiency)
    • Nutrient-specific transport deficiencies (eg, Hartnup disease)
    • Decreased availability of specific nutrients (eg, vitamin B12 deficiency due to decreased intrinsic factor)
    • Alterations of circulation (eg, mesenteric ischemia, heart failure, portal hypertension, lymphatic obstruction
  • Miscellaneous
    • Amyloidosis, systemic sclerosis (scleroderma), hyperthyroidism, Zollinger-Ellison syndrome, atrophic gastritis, medication-induced malabsorption, neurofibromatosis

Pathophysiology

  • Nutrient digestion and absorption occurs in three phases
    • Luminal phase – breakdown and solubilization of proteins, carbohydrates, and fats by digestive enzymes and bile
    • Mucosal phase – transport of digested nutrients into gastrointestinal epithelial cells
    • Transport phase – transport of nutrients via lymphatics and portal circulation from small intestine to other parts of the body
  • Any process that disrupts one or more of these phases can cause malabsorption

Clinical Presentation

  • Prominent symptom – diarrhea
  • Gastrointestinal – steatorrhea, abdominal bloating, abdominal pain
  • Constitutional – weight loss, fatigue
  • Extraintestinal – anemia, skin rashes, stomatitis, glossitis, peripheral edema, ascites

Diagnosis

Indications for Testing

  • Diarrhea, steatorrhea, preexisting condition that may predispose to malabsorption

Laboratory Testing

  • Initial screening tests
    • CBC
      • Mild anemia frequent; leukocytosis in IBD or infectious etiology
      • Eosinophilia – consider parasitic evaluation
    • Electrolyte panel
    • ESR – elevated in inflammatory or infectious processes
    • Liver enzymes, including albumin
      • Low albumin suggests chronic processes
    • TSH – rule out thyroid disease
    • Fecal tests – perform in parallel with serum tests
      • Fecal fat, qualitative/quantitative
      • Stool culture, ova and parasite – rule out infectious diarrhea
      • Fecal leukocytes – present in IBD, infectious diarrhea
      • Fecal occult blood or guaiac
    • Consider celiac serologies
    • If initial test results are abnormal, proceed to testing based on suspected disease (see the Malabsorption Testing Algorithm)
    • If initial test results are normal, consider other tests – abdominal CT or ultrasound, endoscopy

Indications for Laboratory Testing

  • Tests generally appear in the order most useful for common clinical situations
  • Click on number for test-specific information in the ARUP Laboratory Test Directory
Test Name and Number Recommended Use Limitations Follow Up
CBC with Platelet Count 0040002
Method: Automated Cell Count

Assess for presence of anemia and leukocytosis

   
Electrolyte Panel 0020410
Method: Ion-Selective Electrode/Enzymatic

Assess for inflammatory processes 

   
Sedimentation Rate, Westergren (ESR) 0040325
Method: Westergren

Assess for inflammatory processes

   
Aspartate Aminotransferase, Serum or Plasma 0020007
Method: Enzymatic

Screen for other causes of malabsorption

   
Alanine Aminotransferase, Serum or Plasma 0020008
Method: Enzymatic

Screen for other causes of malabsorption

   
Albumin, Serum by Nephelometry 0050671
Method: Nephelometry

Assess nutritional status 

   
Thyroid Stimulating Hormone 0070145
Method: Electrochemiluminescent Immunoassay

Rule out thyroid disease as cause for malabsorption

   
Occult Blood, Fecal 0020374
Method: Colorimetry

Assess for fecal blood 

   
Lactoferrin, Fecal by ELISA 0061164
Method: Enzyme-Linked Immunosorbent Assay

Assess bowel inflammation

Determine presence of fecal leucocytes 

   
Fat, Fecal Qualitative 0020385
Method: Microscopic/Stain/Heat

Determine presence of steatorrhea

Determine etiology of malabsorption

Increased neutral fats suggest a deficiency of pancreatic enzymes; increased split fats suggest impaired bile secretion or inadequate absorption of nutrients

Include as part of metabolic or fat balance studies

Results can not be used if patient on low fat diet

 
Ova & Parasite Exam, Fecal (Immunocompromised or Travel History) 2002272
Method: Concentration Technique/Trichrome Stain/Microscopic Evaluation

Rule out parasites as cause for malabsorption in immunocompromised patients and patients with appropriate travel history

   
Celiac Disease Reflexive Panel 0051065
Method: Nephelometry/Enzyme-Linked Immunosorbent Assay

Rule out celiac disease

   
Immunoglobulin A, Serum 0050340
Method: Nephelometry

Rule out celiac disease

   
Tissue Transglutaminase Antibody, IgG 0056009
Method: Enzyme-Linked Immunosorbent Assay

Rule out celiac disease

   
Pancreatic Elastase, Fecal 0080526
Method: Enzyme-Linked Immunosorbent Assay

Evaluate exocrine pancreatic function

Determine etiology of pancreatic insufficiency

Sensitive and specific test for pancreatic insufficiency

 

If pancreatic insufficiency is present, consider cystic fibrosis testing

Fat, Fecal Quantitative, Homogenized Aliquot 2002350
Method: Nuclear Magnetic Resonance Spectroscopy

Definitive test for determining the presence of malabsorption

Include as part of metabolic or fat balance studies

Results cannot be used if patient on low-fat diet

Quantitative test requires a 72-hour stool collection

If increased, consider xylose absorption test for assessment of intestinal mucosa integrity

Xylose Absorption Test (Adult - 5g dose) 0020615
Method: Spectrophotometry

Evaluate carbohydrate absorption by the mucosa of the proximal small intestine 

The 5g dose is preferred in patients who do not tolerate the 25g dose

   
Xylose Absorption Test (Adult - 25 g dose) 0020609
Method: Spectrophotometry

Evaluate carbohydrate absorption by the mucosa of the proximal small intestine

Decreased absorption of D-xylose is due to impaired intestinal absorption

   
Xylose Absorption Test (Child) 0020612
Method: Spectrophotometry

Evaluate carbohydrate absorption by the mucosa of the proximal small intestine

   
Lactose Tolerance 0020407
Method: Enzymatic

Evaluate mucosal absorption efficiency in a variety of malabsorptive diseases in children

May be used for diagnosing lactose deficiency

Components include fasting glucose, 30-minute glucose, 1-hour glucose, 2-hour glucose-LACTOL, 3-hour glucose

   
Additional Tests Available
 
Click the plus sign to expand the table of additional tests.
Test Name and NumberComments
Disaccharidase, Tissue 2002247
Method:  Spectrophotometry

Evaluate patients suffering with chronic diarrhea, intestinal upset, or failure to thrive

Fat, Fecal Quantitative 24-Hour Collection (Includes Homogenization) 2002354
Method: Nuclear Magnetic Resonance Spectroscopy
Fat, Fecal Quantitative 48-Hour Collection (Includes Homogenization) 2002355
Method: Nuclear Magnetic Resonance Spectroscopy
Osmolality, Fecal 0098122
Method: Freezing Point Depression
Fat, Fecal Quantitative 72-Hour Collection (Includes Homogenization) 2002356
Method: Nuclear Magnetic Resonance Spectroscopy
Carotenes, Fractionated, Plasma or Serum 0021021
Method: High Performance Liquid Chromatography
Electrolytes, Fecal 0060185
Method: Ion-Selective Electrode
pH, Fecal 0020518
Method: pH Indicator Strips or pH meter
Reducing Substances, Fecal 0020373
Method: Colorimetry
Trypsin-Like Immunoreactivity 0070003
Method: Radioimmunoassay
Carotene, Serum Total 0080055
Method: Spectrophotometry