Updated: 7/5/2021

Malabsorption Syndromes

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  • Snapshot
    • A 45-year-old woman presents to her primary care physician with a complaints of unintentional weight loss. She denies any fevers or night sweats. She does report having frequent diarrhea as well as pale, foul-smelling bowel movements. She recently went on a trip to the Carribbean. On physical exam, she appears thin but her physical exam is otherwise insignificant. Serum labs reveal increased prothrombin time. A small bowel biopsy shows the presence of PAS-negative microorganisms. She is started on antibiotics. (Tropical sprue)
  • Introduction
    • Overview
      • malabsorption syndromes
        • inability to absorb macronutrients or micronutrients
        • often associated with chronic diarrhea and result in nutritional deficiencies
      • treatment is targeted at correcting the underlying disorder
  • Epidemiology
    • etiology
      • fat malabsorption
        • celiac disease
        • Whipple disease
          • infection with Tropheryma whipplei
        • pancreatic insufficiency
        • tropical sprue
          • cause unknown but thought to be due to microorganisms in the tropics (e.g., Caribbean) or South Asia/India
      • lactose intolerance
      • bile salt deficiency
      • short bowel syndrome
  • Pathogenesis
    • mechanism
      • impairment in absorption of nutrients due to a variety of defects in intestinal mucosa
      • malabsorption of fat-soluble vitamins
        • vitamins A, D, E, and K
      • vitamin B12 deficiency
        • destruction of terminal ileum
        • loss of pancreatic enzymes that aid in B12 absoprtion
      • lactose intolerance
        • lactase deficiency
        • colonic bacteria ferment lactose and cause decreased stool pH, resulting in osmotic diarrhea
  • Presentation
    • History
      • easy bruising
    • Symptoms
      • common symptoms
        • frequent and loose watery stools
          • lactose intolerance
        • pale, bulky, foul-smelling stools
          • fat malabsorption
        • abdominal pain and flatus
        • bloating and weight loss
        • vitamin deficiencies
          • Vitamin B12 and folate deficiency
            • megaloblastic anemia
            • +/- neurologic symptoms
      • Vitamin Deficiencies
      • Vitamin A Deficiency
      • Vitamin D Deficiency
      • Vitamin E Deficiency
      • Vitamin K Deficiency
      • Night blindness
      •  Xeroderma
      • Osteomalacia
      •  Ricketts
      • Hemolytic anemia
      •  Muscle weakness
      •  Paresthesias
      • Bleeding
      •  Easy bruising
  • Imaging
    • Abdominal computed tomography
      • indications
        • evaluate for chronic pancreatitis
  • Studies
    • Serum labs
      • hypocalcemia
      • ↑ prothrombin time/INR
        • vitamin K malabsorption
      • autoantibodies for celiac disease
      • anemia
        • microcytic or macrocytic depending on etiology of malabsorption syndrome
    • Invasive studies
      • Sudan black stain of stool
        • stains and detects fat
      • 72-hour fecal fat test
        • most sensitive
      • small bowel biopsy
        • indication
          • diagnosis of celiac disease, Whipple disease, or tropical sprue
        • findings
          • celiac disease
            • villous atrophy, crypt hyperplasia, and lymphocytosis
          • Whipple disease
            • PAS-positive organisms with foamy macrophages in intestinal lamina propria
          • tropical sprue
            • villous blunting/atrophy
            • lymphocytes, plasma cells, and eosinophils
            • +/- microorganisms
          • lactase deficiency
            • normal villi
      • lactose hydrogen breath test
        • indication
          • lactose intolerance testing
      • D-xylose absorption test
        • indications
          • diagnosis of small intestine malabsorption
          • distinguishes from pancreatic disorders
        • findings
          • abnormal D-xylose testing indicates that villous lining is destroyed or impaired, resulting in malabsorption of D-xylose
  • Differential
      • Fat Malabsorption Syndromes
      • Celiac Disease
      • Whipple Disease
      • Pancreatic Insufficiency
      • Tropical Sprue
      • Fat malabsorption
      • Pale, bulky, and foul-smelling stools
      • Pale, bulky, and foul-smelling stools
      • Pale, bulky, and foul-smelling stools
      • Pale, bulky, and foul-smelling stools
      • Unique clinical features
      • Positive autoantibodies
      • Dermatitis herpetiformis
      • Triad:
      • cardiac symptoms
      • arthralgia
      • neurologic symptoms
      •  Caused by Tropheryma whipplei, a gram-positive rod
      • History of alcoholism
      •  History of previous episodes of pancreatitis
      • History of being in tropical regions or South Asia
      •  Negative autoantibodies
      •  Megaloblastic anemia due to folate and vitamin B12 deficiences
      • Diagnostic testing
      • Small bowel biopsy
      •  Abnormal D-xylose test
      •  Autoantibodies
      • Small bowel biopsy
      •  Polymerase chain reaction of stool showing T. whipplei
      •  Abnormal D-xylose test
      • Abdominal CT scan
      •  Secretin stimulation testing
      • Small bowel biopsy
      •  Abnormal D-xylose test
      • Treatment
      • Dietary restrictions:
      • avoid gluten
      • Ceftriaxone
      •  Trimethoprim/sulfamethoxazole
      •  Tetracycline
      • Enzyme replacement therapy
      • Tetracyclines
  • Treatment
    • Lifestyle
      • dietary restriction
        • indication
          • celiac disease
        • modality
          • avoid gluten
    • Medical
      • treat underlying condition
      • antibiotics
        • indication
          • whipple disease
          • tropical sprue
        • drugs
          • tetracycline
          • doxycycline
          • ceftriaxone
          • trimethoprim/sulfamethoxazole
      • enzyme replacement therapy
        • indication
          • chronic pancreatitis
          • lactose intolerance
      • nutrition replacement therapy
        • indication
          • vitamin deficiencies
    • Surgical
      • none
  • Complications
    • Malnutrition

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