GI diarrhea, flatus, abdominal pain, weight loss, mucositosis (vitamin deficiencies)
Hematologic anemia from iron, pyridoxine, folate, B12 deficiency, bleeding from vitamin K deficiency
Muscle/Bone osteopenia and tetany from calcium, magnesium, vitamin D, and protein malabsorption
Endocrine amenorrhea, impotence, infertility from general malnutrition, hyperparathyroidism from calcium and vitamin D deficiency
Skin purpura, petechiae from vitamin K deficiency, edema from protein deficiency
dermatitis, hyperkeratosis from vitamin A, zinc, essential fatty acids and niacin def.
Neuro peripheral neuropathy from vitamin A and B12 deficiency
Ddx
Celiac (Sprue), Whipple’s
Bacterial overgrowth
Lactase deficiency, allergy/hypersensitivity
Abetalipoproteinemia
Radiation-induced enterocolitis [pic]
Eosinophilic Gastroenteritis
Short gut syndrome
Work-up
collect all stools / r/o emotional causes
Lab Tests
72 hr fecal fat - >6 g/day / 20-30g/day on 100g/day fat diet suggests pancreatitis
xylose absorption test (measured by 14CO2 in breath)
decrease indicates injury to intestinal mucosa / increase indicates bacterial overgrowth (also suggested by abdominal radiography of fistula, blind loop, stasis)
decreased stool pH suggests lactase deficiency or celiac disease
Schilling test (rarely done)– positive test when urine B12 is only increased by combination of B12 and IF (suggests gastritis/pernicious anemia)
Celiac sprue [NEJM]
General: diffuse enteritis (mostly upper intestine)
Epidemiology: 1 in 250 / whites only / any age, bimodal (4 yrs and 20s to 30s)
Risk Factors: dermatitis herpetiformis, type I diabetes, autoimmune thyroid, IgA deficiency, connective tissue diseases, Down’s, collagenous or lymphocytic colitis, neurological or neuromuscular disorders, FH of celiac disease
Mechanism: gluten sensitivity (from wheat and other grains) / Genetics: HLA B8 or Dqw2
Pathology: flat mucosa, tortuous crypts, villous atrophy [pic] / lymphocytes (+) / mucosal thickness remains constant / often reversible
Presentation: malabsorptive syndrome and diarrhea, vomiting, flatulence, fatigue, short stature, delayed puberty, weight loss and failure to thrive (can occur even without the diarrhea/steatorrhea) / severe abdominal pain usually from complications of refractory/untreated celiac disease
Extraintestinal
arthritis (25%) may precede GI symptoms (polyarticular, oligoarticular, or spondylitis)
dermatitis herpetiformis
Diagnosis:
IgA for gliadin (85% sensitivity, 90% specificity) / IgG for gliadin (80%, 80%)
Anti-endomysial Ab (more expensive) gold standard (95%/95%)
if high suspicion endomysial Ab testing and small-bowel biopsy
if low suspicion endomysial Ab testing and gliadin Ab testing
Other: malabsorption and decreased stool pH, biopsy, gluten-free improvement / sucrose screening test (absorbed mostly in proximal intestine) / may want to r/o Meckel’s, enteroclysis
Complications: ulcerative jejunitis, small bowel intussusception, colonic volvulus
NHL of small intestine (T-cell lymphoma with poor prognosis) (2x risk, but worse celiac disease does mean worse risk for lymphoma), intestinal adenocarcinoma, esophageal CA, oropharyngeal CA
Extra-intestinal GI findings: lymphocytic gastritis, lymphocytic colitis, collagenous colitis, Treatment: remove gluten from diet (can take from just days to up to 6 months to see benefits, efficacy can increase up to a year) / IgA against gliadin can be used to assess clinical response and compliance with gluten-free diet
Tropical sprue (post-infectious)
megaloblastic changes in epithelial cells from B12 deficiency
Treatment: broad spectrum antibiotics
Whipple’s disease (intestine, CNS, joints) [NEJM] [G]
rare / white males in 40-60s (not always) / affects small bowel, rarely large bowel
micro: gram-positive, family actinomyces
Presentation: malabsorption, diarrhea (watery/semi-formed, sometimes bloody), anorexia, malaise, weight loss, abdominal pain, fever (50%), increased skin pigmentation, arthritis (66%, often precede GI, migratory or axial), anemia, lymphadenopathy (50%) / extra-intestinal symptoms can precede GI symptoms by many years
Lungs: chronic cough, pleuritis
Heart: pericarditis, valvular endocarditis
CNS (10%): ocular, CNS symptoms / common triad of dementia, opthalmoplegia, myoclonus [MRI]
Malabsorption: loss of calcium, fat, protein / muscle wasting, osteopenia, glossitis, skin pigmentation, clubbing, purpura
Labs: low albumin and immunoglobulin levels (from GI loss), steatorrhea, defective xylose absorption, low cholesterol, anemia (chronic disease, B12, or iron deficiency)
Radiography: thickened mucosal folds of small intestine proximal > distal on SBFT [pic]
Diagnosis: PCR of small intestinal biopsy for causative organism (Tropheryma) / macrophages contain PAS and rod-shaped bacilli / characteristic changes in small intestine mucosal (changes usu. reverse immediately after treatment, but occasionally persist even years after successful treatment), PAS-granules sometimes seen in normal large bowel specimens (non-diagnostic) / PCR has identified organisms (but organisms do not grow) in various extra-GI body fluids like CNS, CVS, joints, blood
Ddx: celiac sprue, seronegative arthritis, intestinal MAI in AIDS
Treatment: several antibiotic choices (PCN +/- bactrim, others); give at least 4 wks (more like 6 months to a year) (1/3 relapse, sometimes years later)
Bacterial Overgrowth Syndrome
luminal stasis (autonomic disorders, scleroderma/MCTD), hypochlorhydria, immune deficiency
Labs: low albumin and prealbumin
Diagnosis: ask your GI fellow if they can do the hydrogen breath test
Treatment: 2 week course of tetracycline, augmentin or flagyl / can use on-off periods (if
predisposing condition is permanent, then multiple courses will be required indefinitely)
Lactase deficiency
congenital is rare / acquired is common – follows mucosal damage (watery diarrhea, acidic stool from bacterial byproducts) / also a late-onset form that occurs following lactation
Abetalipoproteinemia
rare AR / apolipoprotein B deficiency / cannot make chylomicrons, VLDL, LDL / TG’s accumulate and vacuolate enterocytes / symptoms: fat malabsorption (diarrhea, steatorrhea), failure to thrive, acanthocytosis, ataxia, retinitis pigmentosa
Short gut syndrome
Treatment: low-fat diet reduced steatorrhea and improves nutrient absorption, supplement diet with medium chain fatty acids (absorbed even without bile salts) / cholestyramine may worsen condition by depleting bile acid pool
Hypersensitivity
abdominal pain NOT usually a feature of hypersensitivity to nuts
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