Intestinal Pathology 2 Flashcards
Malabsorption
Hallmark of malabsorption is * steatorrhea
Defective absorption of fats, fat- and water-soluble vitamins, proteins, carbohydrates, electrolytes and minerals, and loss of water.
Malabsorptive disorders most commonly encountered in the * United States are pancreatic insufficiency, celiac disease and Crohn disease
Malabsorption results from disturbance in at least one of the phases of nutrient absorption
Intraluminal digestion
- Pancreatic insufficiency
(Chronic pancreatitis, Cystic fibrosis)
Terminal digestion and/or transepithelial transport
- Celiac disease
- Disaccharidase deficency
- Crohns disease
- Abetalipoproteinemia
Transport into lymphatics
- Whipple disease
- Intestinal lymphangiectasia
Whipple Disease
Blocks Nutrient Transport into Lymphatics
Chronic, relapsing multisystem illness involving the GI tract (diarrhea, steatorrhea, malabsorption) and distant sites (arthritis, lymphadenopathy)
Disease characterized by * weight loss, diarrhea, and polyarthritis;* occur together at presentation in 75% of cases
Infection of the small intestinal mucosa by the gram positive bacillus Tropheryma whipplei
Usually white males ages 30-49 years (10:1 male predominance)
Treat successfully with antibiotics
histology of whipple disease
foamy macrophages
Distended foamy macrophages in lamina propria contain Tropheryma whippeli, a gram positive intracellular actinomycete
PAS-D+ organisms
Celiac Disease
Celiac disease is an inflammatory disease of small bowel in * genetically susceptible individuals
Genetic predisposition:* strong association with certain HLA types (HLA-DQ2 and DQ8)
Inciting agent exposure: * gluten (actually, the alcohol-soluble * gliadin) from wheat, barley, oat, rye
T-cell (inflammatory) response:
Altered peptides are presented to CD4+ T cells in mucosa, leading to an increase in CD8+ intraepithelial lymphocytes that produce proinflammatory cytokines
Celiac Disease presentation
Adults present usually between the ages of 30-60
Children present usually between the ages of 6 and 24 months.
Can be silent (positive serology and villous atrophy without symptoms)
Can be latent (positive serology and no villous atrophy, may have symptoms)
Systemic effects of malabsorption
10-15% of patients will have dermatitis herpetiformis
Vague abdominal discomfort and especially abdominal bloating can lead to a mistaken diagnosis of irritable bowel syndrome
celiac disease risk associations
Increased risk for enteropathy-associated T-cell lymphoma
Increased risk for small intestine adenocarcinoma
new developments in celiac disease
In the past,* typical celiac disease denoted a clinical presentation with diarrhea, steatorrhea, weight loss, and nutritional deficiencies.
In contrast, presentations previously described asatypical celiac disease
(e.g., anemia, fatigue, abdominal bloating and discomfort, osteoporosis, or infertility) are now * more common
Celiac Disease: Diagnosis
Malabsorption
- Immunoglobulin A Tissue Transglutaminase
Small bowel biopsy distal duodenum/jejunum
- Response to gluten-free diet
HLA-DQ2 or HLA-DQ8
(high negative predictor)
Dermatitis herpetiformis
a chronic blistering intensely itchy skin condition, characterised by blisters filled with a watery fluid
Celiac Disease–> 15-25% develop dermatitis herpetiformis
Deposition of immunoglobulin A (IgA) in upper papillary dermis
Environmental Enteropathy
“Tropical Sprue”
Disorder prevalent in areas and populations with poor sanitation and hygiene
Etiology of tropical sprue remains unknown
Typically affects adults
Typical presentation is with chronic diarrhea, soreness of the tongue
(Vitamin B deficiency), and weight loss
Steatorrhea
Autoimmune Enteropathy
Rare
- Intractable diarrhea and * malabsorption associated with circulating gut autoantibodies and a predisposition to autoimmunity
Affects infants, young children and (rarely) adults
Evidence * suggests a hyperactive immune state due to a defect in regulatory T-cells
Autoimmune enteropathy diagnostic criteria:
Presence of chronic diarrhea and malabsorption
Partial or complete villus blunting, deep crypt lymphocytosis, increased crypt apoptotic bodies, and minimal intraepithelial lymphocytosis
Presence of anti-enterocyte antibodies and anti-goblet cell antibodies
- Absence of antibodies does not exclude the diagnosis
Disaccharidase (Lactase) Deficiency
Congenital lactase deficiency is a rare autosomal recessive disorder
Acquired lactase deficiency is common, particularly among Native-Americans and African Americans
Incomplete breakdown of lactose leads to osmotic diarrhea from unabsorbed lactose
May resolve over time
Abetalipoproteinemia
Abetalipoproteinemia is a rare, autosomal recessive disorder, characterized by fat malabsorption.
Mutation in the microsomal triglyceride transfer protein (MTP)
** -Failure to assemble and export lipoproteins
Malabsorption
Dietary modification and replacement of fat soluble vitamins