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GI diarrhea, flatus, abdominal pain, weight loss, mucositosis (vitamin deficiencies)



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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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