Chapter 17 Part 5 Flashcards

1
Q

What is the hallmark symptom of malabsorption?

A

-steatorrhea (bulky, frothy, greasy, yellow stool that has excess fat)

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2
Q

What are the most common malabsorptive disorders in the U.S.?

A
  • pancreatic insufficiency (common in CF patients)
  • celiac disease
  • Crohn disease
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3
Q

Characteristics of secretory diarrhea.

A
  • isotonic stool

- persists during fasting

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4
Q

Characteristics of osmotic diarrhea.

A
  • due to excessive osmotic forces that are exerted by unabsorbed luminal solutes
  • abates when fasting
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5
Q

The resulting loss of exocrine secretion from the pancreas in CF patients impairs which phase of digestion and nutrient absorption?

A

-intraluminal digestion, due to impaired fat absorption

impaired fat absorption leads to Vit A deficiency

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6
Q

Celiac disease is triggered by the presence of what alcohol-soluble fraction of gluten?

A

gliadin peptides, which may induce epithelial cells to express IL-15 that activates CD8 T-cells

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7
Q

What happens to gliadin peptides that cross into the lamina propria due to epithelial damage in celiac disease?

A

they are deamidated by tTG (tissue transglutaminase) where they interact with APC’s expressing HLA-DQ2 or HLA-DQ8 and result in stimulation of CD4 T-cells to produce cytokines that damage tissue

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8
Q

Where are biopsy specimens taken from to diagnose celiac disease?

A

-second part of the duodenum or the proximal jejunum (those portions are exposed to the highest concentration of dietary gluten)

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9
Q

What does celiac disease look like on histology?

A
  • -increased number of intraepithelial CD8 T-cells
  • -crypt hyperplasia
  • -villous atrophy
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10
Q

True or False: combination of histology and serology is the most specific diagnosis for celiac disease

A

True; can’t be diagnosed on histology alone because intraepithelial lymphocytosis and villous atrophy are not specific for celiac disease

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11
Q

What serologic test is recommended for celiac disease screening?

A
  • tTG antibody (IgA tissue transglutaminase) and EMA (IgA endomysial antibody)
  • testing for gliadin antibodies has low sensitivity and specificity, so it’s no longer recommended
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12
Q

What are the symptoms of celiac disease in adults?

A
  • chronic diarrhea
  • bloating
  • chronic fatigue
  • anemia d/t chronic malabsorption of iron and vitamins
  • dermatitis herpetiformis
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13
Q

What is the most common patient population to be diagnosed with celiac disease?

A

-women, ages 30-60

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14
Q

When does pediatric celiac disease typically begin?

A

-after addition of gluten into the diet between the ages of 6 to 24 months

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15
Q

What are the pediatric symptoms of celiac disease?

A
  • irritability
  • abdominal distention
  • chronic diarrhea
  • failure to thrive
  • weight and muscle loss
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16
Q

What are symptoms of celiac disease in older children?

A
  • abdominal pain
  • N/V
  • bloating
  • constipation
17
Q

What are extraintestinal symptoms of celiac disease?

A
  • arthritis/joint pain
  • aphthous ulcers
  • IDA
  • delayed puberty
  • short stature
18
Q

What are long-term complications of celiac disease?

A
  • anemia
  • female infertility
  • osteoporosis
  • cancer
19
Q

True or False: HLA-DQ2 and HLA-DQ8 are helpful in confirming celiac disease

A

False, but the ABSENCE of them is useful due to the high negative predictive value

20
Q

True or False: individuals with celiac disease have a higher rate of malignancy

A

True

  • -enteropathy-associated T-cell lymphoma
  • -small intestine adenocarcinoma
21
Q

Which populations of the world are at risk of Environmental Enteropathy?

A
  • poor sanitation and hygiene in developing countries

- -Sub-Saharan Africa, aboriginals

22
Q

What are the symptoms of Environmental Enteropathy?

A
  • malabsorption/malnutrition
  • stunted growth
  • defective intestinal mucosal immune fxn
23
Q

What is the cause of Environmental Enteropathy?

A

unknown

24
Q

What is the inheritance pattern of Autoimmune Enteropathy?

A

–X-linked

25
Q

What does the acronym IPEX stand for? (IPEX is the severe familial forms of Autoimmune Enteropathy)

A
  • -immune dysregulation
  • -polyendocrinopathy
  • -enteropathy
  • -X-linked
26
Q

What gene is affected in IPEX?

A

-germline “loss of function” mutation in FOXP3

transcription factor in CD4 T-reg cells

27
Q

Autoantibodies to which cells are common in patients with autoimmune enteropathy?

A
  • enterocytes
  • goblet cells
  • less common: parietal cells and islet cells
28
Q

What is the cellular infiltrate in autoimmune enteropathy versus celiac disease?

A
  • neutrophils in autoimmune enteropathy

- also increased intraepithelial lymphocytes, but not to the extent as in celiac disease

29
Q

What type of diarrhea does a lactase deficiency cause?

A

osmotic

30
Q

What are the characteristics of congenital lactase deficiency?

A
  • autosomal recessive (rare)
  • explosive watery, frothy diarrhea
  • abdominal distention after milk ingestion
31
Q

What are the characteristics of acquired lactase deficiency?

A
  • downregulation of lactase gene expression
  • can present temporarily after enteric infections
  • Native American, African American, and Chinese
  • abdominal fullness, diarrhea, flatulence
32
Q

What are the characteristics of abetalipoproteinemia?

A
  • autosomal recessive (rare)
  • failure to thrive, diarrhea, steatorrhea in infancy

-failure to absorb fatty acids due to lack of plasma lipoproteins that contain apolipoprotein B

33
Q

What is the mutated gene in abetalipoproteinemia?

A

-MTP (microsomal triglyceride transfer protein)

–required for transfering lipids to nascent apolipoprotein B in the ER; thus w/o MTP, lipids accumulate intracellularly