Pathology Final - Gen. Disorders, GI, Liver

  1. What are 4 known causes of developmental disorders and what might they result in?
    • Fetal alcohol syndrome: Growth retardation, Facial abnormalities ( maxillary hypoplasia, etc.), Mental retardation
    • Rubella: Microcephaly, Microphthalmia, Cardiac defects
    • Thalidomide
    • Radiation exposure
  2. Klinefelter syndrome
    • 47, XXY - Tall male, infertile, testicular atrophy
    • Genetic chromosomal abnormality
  3. Turner syndrome
    45, X - Short female, web neck, infertility, streak gonads
  4. Down syndrome
    Trisomy 21; Congenital heart disease (40%), 15x increase in risk for leukemia; male infertility; Early Alzheimer changes in CNS
  5. Marfan syndrome
    • defective fibrillin protein—think of Abe Lincoln Floppy valve syndrome; dissecting aortic, aneurysms; Eye disorders (cataracts, detached retina)
    • Autosomal dominant
  6. Ehler Danlos syndrome
    • Think rubber man—hypermobility and hyper-elasticity; Defect in collagen gene; fragility of blood vessels
    • Autosomal dominant
  7. Osteogenesis imperfecta
    • Defect in collagen type 1; bones break easily; Can have blue sclerae; dentinogenesis imperfecta
    • Autosomal dominant
  8. Achondroplasia
    • dwarfism (short limbs); defect in endochondral ossification, affects long bones; mutation of gene encoding the receptor for fibroblast growth factor
    • Autosomal dominant
  9. Adult polycystic kidney disease
    • gene on chromosome 16; progressive cystic dilation of renal tubules which become non-functional—renal failure in 3rd or 4th decade.
    • Autosomal dominant
  10. Huntington disease
    • Expanded CAG nucleotide repeat chromosome 4; Progressive dementia, chorea (involuntary movements), and affective outbursts.
    • Autosomal dominant
  11. Familial hypercolesterolemia
    Low density lipoprotein cannot be removed from circulation leading to accelerated atherosclerosis and deposits of cholesterol in tissues (xanthomas)
  12. Cystic fibrosis
    most common lethal autosomal recessive disorder of humans; almost exclusively affects Caucasians; involves the lack of transport of chloride across the cell membrane; affects bronchial glands (mucus buildup) and pancreas (dilation of ducts with thick mucus leading to pancreatic fibrosis), decreased function, and malabsorption of nutrients due to deficiency of digestive enzymes)
  13. PKU
    high serum phenylalanine; mental deterioration
  14. Lysosomal storage diseases
    • Tay Sachs---hexosaminidase deficiency
    • Gauchers---Glucocerebrosidase deficiency
    • Nieman Pick—Sphingomyelinase deficiency
    • Hurlers—alpha-L-Iduronidase deficiency
  15. What are the main causes of Esophagitis?
    • Reflux of stomach acid (GERD)
    • Over-eating
    • Smoking-alcohol
    • Autoimmune diseases with epithelial sloughing
  16. What are the complications associated with Esophagitis?
    • Peptic ulcers
    • Esophageal strictures (causes difficulty swallowing)
    • Barrett’s esophagus - Metaplasia of squamous epithelium to columnar glandular epithelium; predisposes to development of adenocarcinoma
  17. Esophageal carcinoma types and prognosis
    Squamous cell--upper 2/3rds--most common worldwide Adenocarcinoma-lower 1/3 --about 50% of cases in US Prognosis: 5% five year survival
  18. Achalasia
    • Lack of neural ganglion cells
    • Symptoms: difficulty swallowing; esophageal spasms; regurgitation
  19. Esophageal webs and strictures
    Causes difficulty swallowing
  20. Hiatal hernia
    • most common--stomach herniates through diaphragm into esophagus
    • Complication of portal hypertension/ liver cirrhosis (often due to Hepatitis C)
    • Rupture causes life-threatening bleeding
  21. Paraesophageal hernia
    • herniates alongside the esophagus varices
    • Complication of portal hypertension/ liver cirrhosis (often due to Hepatitis C)
    • Rupture causes life-threatening bleeding
  22. Mallory Weiss syndrome
    Esophageal laceration due to vomiting; seen in alcoholics
  23. Zenkers diverticulum
    blind pouch in esophagus just above esophageal sphincter; dysphagia (difficulty swallowing)
  24. Pyloric stenosis
    • Congenital or acquired; 1 in 1000 births;
    • Causes difficulty in passage of food; projectile vomiting
  25. Acute gastritis
    • Superficial inflammation of stomach
    • Due to NSAIDS, alcohol, aaspirin
    • Can be erosive may vomit up blood (Hematemesis)
  26. Chronic Gastritis
    • More common with age
    • 3 causes: Infectious--Helicobacter, Autoimmune---causes pernicious anemia-antibodies or intrinsic factor or parietal cells; achlorhydria (lack of gastric acid secretion), Reactive--post partial gastrectomy
  27. Morphology of Helicobacter gastritis/ infections
    • Mucin layer depletion
    • Atrophy of gastric glands
    • Mixed inflammatory infiltrates
    • Intestinal metaplasia
  28. Peptic ulcers
    • Ulcers of esophagus, stomach, and/or duodenum
    • Multifactorial etiology: Helicobacter; stress, NSAIDs, radiation, vascular insufficiency, smoking, primary hyperparathyroidism
    • Complications: hemorrhage, adhesions, perforation, strictures
    • NOT a precursor to carcinoma
    • Zollinger-Ellison syndrome: peptic ulcers secondary to Gastrin secreating pancreatic tumor
  29. Gastric adenocarcinoma
    • Not common in US---more common in Asia, Scandinavian countries; more frequent with Blood type A
    • Aggressive: tends to spread to adjacent organs
    • Risk factors: smoked foods, chronic gastritis, H pylori
    • Bilateral involvement of the ovaries by metastatic stomach cancer is called a Krukenberg tumor
  30. Stomach lymphomas are typically of what variant?
    • MALT (mucous-associated lymphoid tissue)
    • Originates from B cells in the marginal zone of the MALT
  31. Meckels Diverticulum
    Most common anomaly of small intestine; Rules of twos; can be complicated with ulceration
  32. Crohns disease
    • Chronic inflammatory condition of any part of GI tract;
    • Skip lesions of involvement
    • Young people 2nd and 3rd decades
    • Symptoms: pain diarrhea, fever
    • Transmural inflammation
    • Strictures; fistulae, non-caseating granulomas
    • Linear ulcerations; cobblestone appearance
  33. Ulcerative colitis
    • Limited to large bowel; continuous progression from rectal area
    • Crypt abscess; pseudopolyps; red granular appearance to colon mucosa involved
    • Not Transmural-shallow ulceration; can have extra-intestinal manifestation also such as polyarthritis
    • Chronic diarrhea with passage of blood and mucus; cramping
    • Complications: Colon cancer risk increased; perforation
  34. Steatorrhea
    malabsorption syndrome resulting in fatty stools
  35. Celiac disease
    • gluten (gliadin) sensitivity; villous atrophy, flat mucosa; chronic inflammation; growth retardation--failure to thrive
    • Malabsorption syndrome
  36. Whipple's disease
    • small intestine; Tropheryma whippeli bacillus in PAS positive macrophages; arthralgias, cardiac, neurologic symptoms
    • Malabsorption syndrome
  37. Hirshsprung's disease
    Dilation of colon (megacolon) and absence of ganglion cells; always involves the rectal area; constipation/ blockage
  38. Entamoeba histolytica
    flask shaped ulcers in colon; liver abscesses
  39. Which type of intestinal polyps are most likely to have malignant transformation?
    Villous adenomas (they are also the least common type of polyp)
  40. What are 3 examples of multiple polyposis syndrome?
    • Gardner syndrome
    • Familial polyposis
    • Turcot syndrome
    • (all have very high malignant potential)
  41. What are the predisposing factors for colon cancer?
    • Adenomatous polyps
    • Inherited polyposis syndrome
    • Longstanding ulcerative colitis
    • Genetic factors
    • Low fiber, high animal fat diet
  42. Volvulus
    twisting of the bowel
  43. Intussusception
    telescoping of the bowel; mostly occurs in kids <4
  44. Herniation
    protrusion of bowel from its normal position through a defect in the abdominal cavity wall
  45. Diverticula
    Blind pouches in colonic wall; can be due to lack of fiber
  46. Diverticulitis
    Inflammation of diverticula; colicky pain; rectal bleeding
  47. Viral Hepatitis
    ballooning degeration; hepatocytes necrosis (Councilman bodies); Piecemeal necrosis in chronic hepatitis; Ground glass hepatocytes-Hepatits B;
  48. Alcoholic hepatitis
    fatty change, focal liver cell necrosis, neutrophil infiltrates; Mallory bodies
  49. Hep A
    no carrier state; no relation to cancer; oral fecal transmission
  50. Hep B
    most infectious of the bloodborne Hepatitis virus
  51. Hep C
    85% proceed to chronic infection
  52. Hep D
    Requires Hep B presence to infect
  53. Hep E
    transmitted oral fecal like Hep A
  54. How do you detect/determine if someone is a hepatitis carrier?
    HBsAg in serum more than 6 months
  55. Cirrhosis
    • Associated with higher incidence of hepatocellular carcinoma
    • Many types of cirrhosis
    • Primary biliary cirrhosis due to autoimmune origin; anti-mitochondrial antibodies; middle aged women; severe obstructive jaundice, itching, elevated cholesterol
    • Secondary biliary cirrhosis due to extrahepatic biliary obstruction; bile stasis
    • Alcoholic cirrhosis: starts with fatty change (steatosis); can proceed to inflammation with necrosis and Mallory bodies; can finally proceed to cirrhosis
  56. Hemochromatosis
    • excess iron absorption and severe iron overload;
    • autosomal recessive; increased serum iron and transferrin
    • Can cause cirrhosis
    • Bronze diabetes=triad of diabetes mellitus, cirrhosis, and increased skin pigmentation
  57. Hemosiderosis
    local or systemic deposition of hemosiderin without organ damage
  58. Wilson's disease
    • Autosomal recessive disorder of copper metabolism
    • Decreased serum ceruloplasmin
    • Kayser Fleischer rings in cornea
    • Liver disease ranging from chronic hepatitis to cirrhosis
    • Involvement of basal ganglia---motor signs
  59. Alpha 1 antitrypsin deficiency
    • One of the most common causes of childhood cirrhosis
    • Inability to inhibit protease enzymes
    • Can have effects on lungs and liver
    • Increased risk for hepatocellular carcinoma
  60. Adenomas of liver
    • Benign tumor
    • Related to oral contraceptive use
    • Rupture can result in severe hemorrhage
  61. Hepatocellular carcinoma
    • Most common Primary malignancy of liver
    • Associated with cirrhosis (especially HBV and HepC)
    • Aflatoxin B exposure
    • Increased serum alpha fetoprotein
  62. Hemangiosarcoma
    associated with thorotrast dye, arsenic, or polyvinyl chloride
  63. What is the most common malignancy of the liver?
    Metastatic malignancy
  64. Acute Pancreatitis
    • Predisposed by alcohol intake and gallstones
    • Increased serum amylase
    • Severe abdominal pain
    • Hypocalcemia
    • 20% mortality
  65. Chronic pancreatitis
    • Progressive parenchymal fibrosis
    • Associated with alcoholism/cholecystitis
    • Can have calcifications
    • May have pseudocysts
  66. Pancreatic carcinoma
    • Most often in the head of pancreas
    • Causes obstructive jaundice
    • Abdominal pain radiating to the back
    • Poor prognosis; early metastases
  67. Gallstones
    • Five F’s (female, fertile, fat, over age forty, flatulent)
    • Most are cholesterol/ calcium stones in U.S.
    • Attacks often precipitated by a fatty meal
  68. Type 1 Diabetes
    • Also called juvenile diabetes—begins early in life usually before age 30; sudden onset
    • Due to a failure in insulin synthesis by Beta cells of pancreatic islets
    • May be caused by a genetic predisposition complicated by autoimmune inflammation (destroys Beta cells) triggered by a viral infection or environmental factors
    • Unless insulin is replaced: Carbohydrate intolerance with hyperglycemia; polyuria, polydipsia, weight loss despite increased appetite
    • Can lead to ketoacidosis, coma, and death
    • TYPE 1:Usually before age 30
    • Sudden onset
    • Normal body weight
    • HLA associations; familial history < 20%)
    • Antibodies to beta cells
    • Inflammation (insulitis), loss of Beta cells, fibrosis
    • Reduced serum insulin levels
    • 90% exhibit complication of diabetes with 20 years
  69. Type 2 diabetes
    • Characteristically begins in middle age
    • Due to increased insulin resistance
    • Gradual onset
    • Etiologic factors: Positive family history, High concordance among twins, Mild to moderate obesity
    • Clinical/LAB: Normal to increased serum insulin, Mild carbohydrate intolerance, Ketoacidosis is unusual —precipitated by infection or surgery
    • Usually after age 30
    • Gradual onset
    • Obese
    • No HLA assoc.; familial history more common (60%)
    • No antibodies
    • Non-specific islet changes and amyloidosis
    • Normal to elevated serum insulin
    • Less common to have complications than type 1 diabetes
  70. Anatomic changes in the kidney seen with diabetes
    • Increased thickness of GBM/ more permeable
    • Diffuse glomerulosclerosis/ Kimmelsteil Wilson disease
    • Arteriolar lesions
    • Pyelonephritis/ papillary necrosis
  71. Anatomic changes to cardiovascular seen with diabetes
    • Increased atherosclerosis
    • Myocardial infarctions more common
    • Peripheral vascular insufficiency
    • Gangrene of extremities
  72. Anatomic changes to the eye seen with diabetes
    • Cataracts more common
    • Diabetic (proliferative) retinopathy-exudates, microaneurysms
  73. Anatomic changes to the nervous system seen with diabetes
    Peripheral neuropathy—numb toes and other woes
  74. Anatomic changes seen in the liver with diabetes
    Fatty changes
  75. Anatomic changes to the skin seen with diabetes
    • Xanthomas
    • Abscesses/ fungal lesions - increased tendency toward infection
Card Set
Pathology Final - Gen. Disorders, GI, Liver
Pathology Final