Malabsorption Syndrome
Definition The inadequate transport of one or more of the constituents of the normal diet from the intestinal
lumen across the intestinal epithelium into the portal circulation is called malabsorption.
Stages of Digestion
1- Intraluminal phase ( Digestive phase )
Dietary fats , proteins & carbohydrates are hydrolyzed & solubilized by pancreatic & biliary secretions
Fat by pancreatic lipase - Protein by pancreatic proteases - Carbohydrates by pancreatic amylase.
Pancreatic insufficiency may be due to chronic pancreatitis , cystic fibrosis , pancreatic cancer & Zollinger-ElIison syndrome
Decrease bile salt concentrations may be d.t biliary obstruction, cholestatic liver disease, bacterial over growth
Colonization of the small intestine with bacteria ( stagnant loop syndrome )
Disease or resection of terminal ileum - Gastroenterostomy and partial gastrectomy
Decrease reabsorption d.t ileal disease such as Crohn’s disease
Motility : Uncoordinated gastric emptying - gastric chyme too quickly to the intestine
2 - Mucosal phase
Mucosal impairment is the most common cause of malabsorption.
The mucosal phase requires a sufficient surface area of intact small intestinal epithelium.
Brush border enzymes are important in the hydrolysis of disaccharides - di-and tripeptides
Celiac disease - Tuberculosis - tropical sprue - Chron’s disease - Lymphoma - Radiation enteritis - Whipple's disease
Generalized mucosal abnormalities - Malabsorption of specific substances - Lactase deficiency
3 - Transport phase :
After absorption , nutrients leaves the cells through the vascular or lymphatic circulation requires intact lymphatic system.
Obstruction of lymphatics results in impaired absorption of chylomicrons & lipoproteins, resulting in steatorrhea.
Vascular : vasculitis & atherosclerosis Lymphatic : lymphangiectasia, infiltrations
Result of Malabsorption
Site of Absorption Nutrient Result of malabsorption
All of Small intestine amino acids ( Proteins ) Wasting , edema
Vitamin B12 Macrocytic , megaloblastic anemia , Glossitis
Mental & neurological disturbance
Vitamin C Bleeding tendency
Monosaccharides ( Carbohydrates ) Flatulent dyspepsia , abdominal distension
Duodenum Iron Anemia
Ca Osteomalacia & tetany
Mg ( Magnesium ) muscular weakness
Na ( Sodium ) Muscular weakness, cramps
K ( Potassium ) Flaccidity, arrhythmias
Folic acid Macrocytic, megaloblastic anemia , Glossitis
Jejunum & Ileum fatty acids ( fats ) steatorrhea, weight loss
Ileum Vitamin D Osteomalacia & tetany
Vitamin K Hemorrhage
Vitamin A Follicular hyperkeratosis , Xerophthalmia
conjugated bile salts Bile in stool
Diagnosis
History . Prior GI surgery · h/o chronic pancreatitis · h/o liver, GI disorder · h/o CTD, diabetes
· h/o radiation therapy . Diet and medications · Alcohol/drugs· h/o chronic sinus or respiratory
infections
. Recent travel history. Timing of onset Bowel habits/stool characteristics· Associated GI and
systemic complaints
Clinical Picture Diarrhea – Steatorrhea – weight loss - Bloating, distension, gas, borborygmi
· Anorexia or hyperphagia · Nausea, vomiting Abdominal discomfort
· Muscle atrophy · Edema . Signs/symptoms of specific vitamin deficiencies .
Investigations
Fecal Fat Determination " Gold standard " to diagnose maldigestion
Quantitative : 72 hour collection optimal
Normal < 7 g/day
Limited use in clinical practice due to issues with collection / processing
Less sensitive for mild-moderate steatorrhea
D - xylose Test : Indicates malabsorption secondary to mucosal dysfunction
Oral load with 25 g D - xylose
5 hr urine collection ( normal > 4 g )
1 hr and 3 hr serum samples ( normal > 20 mg / dl at 1 hr , > 18.5 mg / dl at 3 hr )
Numerous factors affect results Role in practice controversial : Use in special populations
Vitamin B12 Absorption Determine etiology of B12 deficiency :
& Schilling Test : 1 mcg radiolabeled cynanocobalamin ingested & 1 mg non - labeled B12 administered IM
24 hr urine collection Recovery of < 9 % abnormal
Numerous causes of false positives / negatives
Direct Pancreatic Gold standard
Function Tests : Quantitative stimulation tests using either secretin or CCK
Requires Dreiling tube placed into duodenum with collection of contents for an hour
Analyzed for bicarbonate (secretin) or amylase/lipase/trypsin (CCK)
Low concentrations ( < 80 - 90 mEq / L HC03 < 780 IU/L lipase ) consistent with pancr. insuff.
Limited by availability, invasiveness, expense
Endoscopic Pancreatic Uses endoscope instead Dreiling tube
Function Tests : Results not affected by sedation or analgesia
Correlates well with conventional test ( in healthy subjects )
More widely available, less costly / uncomfortable, no radiation exposure
Practicality of 1 hr endoscopy - Timed specimens at 30 / 45 min sufficient
Indirect Pancreatic · Serum trypsinogen/trypsin · Fecal chymotrypsin - Fecal elastase-1 - Pancreolauryl test -
Function Tests : Bentiromide test - Trial of pancreatic enzymes
Breath Tests : Specific carbohydrate malabsorption
Lactose, fructose, sucrose , Hydrogen
Small intestinal bacterial overgrowth
V Glucose, lactulose, Hydrogen , Xylose, glycocholate
Fat malabsorption
14C – triolein , Historical interest mainly
Small Bowel Culture : “ Gold Standard ” test for SIBO ( bact. Overgrowth ) Abnormal > 100000 cfu/ml
Many limitations : Invasive – Expensive – Contamination - Many bacterial uncultivatable
- Difficulty culturing anaerobes
Imaging Studies : Barium contrast small bowel series :Anatomical lesions, transit - Flocculation, decreased folds,
segmentation, dilation
CT / MR enterography : Detect bowel & pancreatic lesions
Enteroscopy VCE, high resolution magnification endoscopy, chromoendoscopy
ERCP : Detect ductal abnormalities / Other diagnostic/therapeutic applications
MRCP : Detect ductal & parenchymal abnormalities
EUS : Detect ductal & parenchymal abnormalities / Allows tissue sampling / Interobserver
variability problematic
Endoscopy & Small Visual assessment : Decreased folds, scalloping, mosaic pattern , “frosted” appearance,
Bowel Biopsy : inflammatory changes
Histologic assessment : Diagnostic : Supportive of diagnosis : Normal
Tests of Fat Malabsorption : Protein-Losing Enteropathy : Tests of Carbohydrate Malabsorption :
Fecal fat collection Characterized by excessive loss of Oral breath tests
Spot fecal fat serum proteins into the gut Quantitative analysis of fecal CHO
14 C - triolein, 13 C - triglyceride breath Hypoproteinemia , hypoalbuminemia , Stool pH
tests edema , muscle atrophy Oral tolerance tests
Near infrared reflectance analysis May occur as isolated phenomenon or Direct assay of mono- &
(NIRA) part of global malabsorption disaccharidases
Need to r/o malnutrition, nephrosis,
liver disease