Genetics of Colon Cancer and Syndromes Quiz
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Questions and Answers

Which of the following is NOT a characteristic of juvenile polyposis syndrome?

  • Multiple polyps, usually more than 10
  • Increased risk of cancer
  • Usually in children and often pedunculated
  • Villous histology (correct)
  • Which of the following factors is NOT a risk factor for developing more polyps?

  • Dysplasia grade
  • Patient's age (correct)
  • Size of the polyp
  • Number of polyps
  • Which of the following is a characteristic of Peutz-Jeghers syndrome?

  • Villous histology with high grade dysplasia
  • Increased risk of cancer in the stomach, small intestine, and colon (correct)
  • Often auto-amputate and cause painless rectal bleeding
  • Benign tumors that occur in children, usually in the rectum
  • Which of the following is NOT a genetic pathway to colon cancer mentioned in the text?

    <p>Juvenile Polyposis Pathway (B)</p> Signup and view all the answers

    What is the significance of the cyclooxygenase-2 expression in colon cancer?

    <p>It is increased in colon cancer (A)</p> Signup and view all the answers

    What is the primary function of the APC gene?

    <p>Suppress tumor cell growth and proliferation (A), Regulate the production of β-catenin (B), Inhibit the activation of oncogenes (C)</p> Signup and view all the answers

    What is the order of genetic events in the "Adenoma-Carcinoma sequence"?

    <p>APC mutation, K-RAS mutation, p53 mutation (B)</p> Signup and view all the answers

    What is the effect of losing the function of the p53 gene?

    <p>Increased risk of colon cancer development (A)</p> Signup and view all the answers

    What is the difference between a "somatic" mutation and a "germline" mutation?

    <p>Somatic mutations occur in body cells and are not inherited, while germline mutations occur in the germ cells and are inherited. (A)</p> Signup and view all the answers

    What type of genetic alteration is the mutation of the K-RAS gene?

    <p>Point mutation (D)</p> Signup and view all the answers

    What is the characteristic feature of Familial Adenomatous Polyposis syndrome?

    <p>Multiple polyps in the colon (D)</p> Signup and view all the answers

    What is the most common type of esophageal cancer in the United States?

    <p>Adenocarcinoma (B)</p> Signup and view all the answers

    Which of the following is NOT a risk factor for developing GERD?

    <p>Regular exercise (C)</p> Signup and view all the answers

    Which of the following is NOT a characteristic of Gardner's Syndrome?

    <p>Increased risk of stomach cancer (B)</p> Signup and view all the answers

    Which condition is characterized by a flat dark spot in the retina?

    <p>Congenital Hypertrophy of the Retinal Pigment Epithelium (C)</p> Signup and view all the answers

    What is the primary function of proton pump inhibitors (PPIs) in treating GERD?

    <p>Inhibit the H+/K+ pump in parietal cells (C)</p> Signup and view all the answers

    Which of the following is a histological finding characteristic of Barrett's esophagus?

    <p>Presence of goblet cells in the columnar epithelium (C)</p> Signup and view all the answers

    What is the mechanism of action of histamine (H2) blockers in treating GERD?

    <p>They inhibit the production of gastric acid (B)</p> Signup and view all the answers

    Which of the following is a potential consequence of prolonged GERD?

    <p>All of the above (D)</p> Signup and view all the answers

    Which of the following is a common symptom of GERD?

    <p>Dysphagia (A)</p> Signup and view all the answers

    Which of the following is a classic histopathological finding in alcoholic liver disease?

    <p>Mallory-Denk bodies (B)</p> Signup and view all the answers

    Which of the following is NOT a common symptom of alcoholic hepatitis?

    <p>Ascites (A)</p> Signup and view all the answers

    Which of the following is a possible cause of esophageal cancer?

    <p>All of the above (D)</p> Signup and view all the answers

    Which of the following liver enzymes is most specifically elevated in hepatobiliary disorders?

    <p>Gamma-glutamyl transpeptidase (GGT) (A)</p> Signup and view all the answers

    Which of the following is a test of liver synthetic function?

    <p>Albumin (B)</p> Signup and view all the answers

    Which of the following describes the typical presentation of esophageal cancer?

    <p>Progressive dysphagia, starting with solids and progressing to liquids (A)</p> Signup and view all the answers

    What is the difference between NAFL and NASH?

    <p>NASH involves inflammation of the liver, while NAFL does not (B)</p> Signup and view all the answers

    Which of the following is NOT a characteristic of alcoholic fatty liver disease?

    <p>Jaundice (B)</p> Signup and view all the answers

    The most common cause of esophageal cancer worldwide is:

    <p>Squamous cell carcinoma (B)</p> Signup and view all the answers

    What is the primary reason for the development of valvular lesions in patients with carcinoid syndrome?

    <p>Increased serotonin levels stimulating fibroblast growth and fibrosis. (D)</p> Signup and view all the answers

    Which of the following is a common clinical symptom associated with carcinoid syndrome?

    <p>Flushing and diarrhea. (C)</p> Signup and view all the answers

    What is the most common location for neuroendocrine tumors?

    <p>Small intestine. (D)</p> Signup and view all the answers

    Why are left-sided heart valve lesions less common in patients with carcinoid syndrome?

    <p>Serotonin is inactivated by the lungs before reaching the left side of the heart. (B)</p> Signup and view all the answers

    Which of the following laboratory findings is typically elevated in patients with carcinoid syndrome?

    <p>5-Hydroxyindoleacetic acid (5-HIAA) in urine. (D)</p> Signup and view all the answers

    What is the main mechanism of action of octreotide in treating carcinoid syndrome?

    <p>Inhibition of the release of bioactive amines. (B)</p> Signup and view all the answers

    What is the correlation between elevated CEA levels and carcinoid syndrome?

    <p>Elevated CEA levels are typically not associated with carcinoid syndrome. (D)</p> Signup and view all the answers

    What type of heart valve abnormalities are most commonly seen in carcinoid syndrome?

    <p>Tricuspid and pulmonic valve stenosis/regurgitation. (B)</p> Signup and view all the answers

    Which of the following statements is TRUE about 5-aminosalicylic acid (5-ASA)?

    <p>All of the above statements are true. (D)</p> Signup and view all the answers

    Which of the following is NOT a common side effect of sulfasalazine?

    <p>Increased risk of colon cancer (D)</p> Signup and view all the answers

    What is a potential complication of a large polyp in the colon?

    <p>All of the above (D)</p> Signup and view all the answers

    Which type of polyp is typically asymptomatic and requires screening colonoscopy for detection?

    <p>Hyperplastic polyp (A)</p> Signup and view all the answers

    Which of the following is a characteristic feature of hyperplastic polyps?

    <p>Classic serrated or sawtooth pattern (A)</p> Signup and view all the answers

    Which of the following statements is TRUE about villous adenomas?

    <p>They are often pedunculated. (D)</p> Signup and view all the answers

    What is the primary reason for using modified 5-ASA compounds like Asacol and Pentasa?

    <p>To deliver a higher concentration of 5-ASA to the colon. (D)</p> Signup and view all the answers

    Which of the following is a potential consequence of excessive mucous secretion from a large polyp in the rectosigmoid region?

    <p>Hypokalemia (D)</p> Signup and view all the answers

    What is the most common physical exam finding of portal hypertension?

    <p>Caput Medusa (A)</p> Signup and view all the answers

    What is the difference between internal and external hemorrhoids?

    <p>All of the above (D)</p> Signup and view all the answers

    What is the most common extra-intestinal manifestation of Crohn's disease?

    <p>Migratory polyarthritis (A)</p> Signup and view all the answers

    Which of the following is NOT a pathologic feature of Crohn's disease?

    <p>Absence of granulomas (C)</p> Signup and view all the answers

    What is the most common location for Crohn's disease?

    <p>Terminal ileum (C)</p> Signup and view all the answers

    What is the "string sign" in Crohn's disease?

    <p>A narrowing of the bowel lumen due to healing fibrosis (D)</p> Signup and view all the answers

    What is the significance of the SAAG (Serum Ascites Albumin Gradient) in patients with ascites?

    <p>All of the above (D)</p> Signup and view all the answers

    What is the recommended screening test for patients with Crohn's disease involving the colon?

    <p>Colonoscopy (A)</p> Signup and view all the answers

    What is the major contributor to both Crohn's disease and ulcerative colitis?

    <p>T cells (B)</p> Signup and view all the answers

    What is the effect of corticosteroids on Crohn's disease and ulcerative colitis?

    <p>Improves outcomes in UC, worsens outcomes in Crohn's (A)</p> Signup and view all the answers

    Which of the following medications is considered a "5-ASA" medication?

    <p>Sulfasalazine (A)</p> Signup and view all the answers

    Which of the following is NOT a potential complication of Crohn's disease?

    <p>Hemorrhoids (D)</p> Signup and view all the answers

    Which of the following is a characteristic of the gross morphology of Crohn's disease?

    <p>Cobblestone mucosa (C)</p> Signup and view all the answers

    What is the mechanism by which portal hypertension can lead to ascites?

    <p>Increased hydrostatic pressure in the portal vein forces fluid into the peritoneal cavity. (A)</p> Signup and view all the answers

    What is the role of nitric oxide in the pathophysiology of portal hypertension?

    <p>Nitric oxide causes vasodilation of the splanchnic vasculature, leading to decreased portal venous pressure. (D)</p> Signup and view all the answers

    Flashcards

    Gastroesophageal Reflux Disease (GERD)

    Condition where gastric juice flows back into the esophagus due to a failing lower esophageal sphincter.

    Lower Esophageal Sphincter (LES)

    A muscle that prevents stomach contents from entering the esophagus; failure leads to GERD.

    Symptoms of GERD

    Common symptoms include heartburn, dysphagia, and respiratory issues.

    Heartburn

    A retrosternal burning sensation typically occurring after meals or when lying down.

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    Barrett's Esophagus

    Metaplasia of squamous epithelium to intestinal epithelium due to long-standing GERD.

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    Nissen Fundoplication

    A surgical treatment for refractory GERD which reinforces the LES.

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    Risk Factors for GERD

    Factors include obesity, smoking, alcohol, and high-fat foods that contribute to the disease.

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    Histamine (H2) Blockers

    Medications like Famotidine that block histamine receptors to reduce stomach acid.

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    Proton Pump Inhibitors

    Medications like Omeprazole that inhibit stomach acid production.

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    Causes of Esophageal Cancer

    Including Barrett's Esophagus, smoking, and chronic GERD can lead to adenocarcinoma.

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    Candida Esophagitis

    A fungal infection characterized by white membranes in the esophagus, often in immunocompromised individuals.

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    Acute Hepatitis Causes

    Alcohol, viral infections, or drug reactions leading to liver inflammation.

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    Non-Alcoholic Fatty Liver Disease (NAFLD)

    Fatty liver condition not due to alcohol, often linked to obesity and can progress to NASH.

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    Liver Enzymes in Hepatitis

    Elevated ALT and AST indicate liver damage; ALT typically elevated more than AST.

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    Chronic alcohol effect on liver

    Long-term alcohol consumption can lead to fatty liver, hepatitis, and cirrhosis.

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    Mckittrick-Wheelock Syndrome

    A rare condition causing severe hydroelectrolyte disorders and acute renal failure.

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    High grade dysplasia

    A classification indicating a higher risk of cancer development in tissues.

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    Metachronous adenoma

    A new polyp that appears around six months after another polyp was found.

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    Juvenile polyposis syndrome

    A condition with multiple benign polyps in children, increasing cancer risk.

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    Peutz-Jeghers syndrome

    An autosomal dominant disorder with hamartomas and pigmented spots, raising cancer risk.

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    DCC gene mutation

    Mutation associated with advanced colorectal cancers.

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    Adenoma-Carcinoma sequence

    The genetic events leading to colon cancer over 10-40 years.

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    APC mutation

    A mutation that leads to loss of β-catenin regulation, increasing cancer risk.

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    K-RAS mutation

    Proto-oncogene mutation that promotes adenoma polyp formation.

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    p53 loss

    Loss of the tumor suppressor p53 leads to tumor cell growth.

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    Familial Adenomatous Polyposis (FAP)

    Autosomal dominant condition with APC mutation; always progresses to cancer.

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    Gardner’s Syndrome

    Condition with APC mutation and extra-colonic symptoms like skin cysts.

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    Congenital Hypertrophy of Retinal Pigment Epithelium

    Benign retinal spot found in Gardner's syndrome patients.

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    Acetylsalicylic acid

    Also known as aspirin, a common anti-inflammatory drug.

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    5-aminosalicylic acid (5-ASA)

    A drug used to treat inflammatory bowel disease.

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    Sulfasalazine

    A medication for inflammatory bowel diseases that includes a sulfa component.

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    Adenomatous polyp

    A type of polyp with potential for malignancy, classifiable by shape.

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    Polyp characteristics

    Benign growths in the colon, often asymptomatic and detected via colonoscopy.

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    Sessile vs. Pedunculated

    Sessile polyps have a broad base; pedunculated polyps are on a stalk.

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    Villous polyp

    A less common polyp type with long projections, higher risk of cancer.

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    Screening colonoscopy

    A procedure to detect polyps or abnormalities in the colon.

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    Colonoscopy

    A medical test used to examine the colon and rectum for abnormalities.

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    Carcinoembryonic Antigen (CEA)

    A tumor marker elevated in colon cancer and other tumors; correlates with disease burden.

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    Neuroendocrine tumors

    Tumors arising from neuroendocrine cells, found in various organs, especially the GI tract.

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    Carcinoid syndrome

    A condition caused by high levels of serotonin, leading to symptoms like flushing and diarrhea when metastasized to the liver.

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    5-Hydroxyindoleacetic acid (5-HIAA)

    A serotonin metabolite that appears in urine during carcinoid syndrome; used for diagnosis.

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    Serotonin's role

    A neurotransmitter that affects mood, GI motility, and can lead to flushing and diarrhea in excess.

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    Tryptophan metabolism

    Normal conversion of tryptophan to serotonin is altered in carcinoid syndrome, leading to deficiencies and symptoms of Pellagra.

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    Octreotide

    A medication that inhibits the release of bioactive amines in carcinoid tumors, alleviating symptoms like flushing and diarrhea.

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    Portal Hypertension

    Increased blood pressure in the portal vein due to obstruction, often from cirrhosis.

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    Ascites

    Accumulation of fluid in the peritoneal cavity, often due to portal hypertension.

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    Serum Ascites Albumin Gradient (SAAG)

    Difference between serum and ascitic fluid albumin levels used to determine ascites cause.

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    Caput Medusa

    Engorged veins around the umbilicus seen in high portal pressure.

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    Venous Anastamoses

    Collateral circulation formed between portal and systemic veins in portal hypertension.

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    Splanchnic Vasodilation

    Widening of blood vessels in the abdominal organs, often increased in portal hypertension.

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    Internal Hemorrhoids

    Swollen veins in the rectum, can occur due to portal hypertension.

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    Non-caseating Granulomas

    Granulomas without necrosis, often seen in Crohn’s disease.

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    Creeping Fat

    Fat wrapping around the bowel wall due to inflammation in Crohn’s disease.

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    Transmural Inflammation

    Inflammation affecting the entire thickness of the bowel wall, typical in Crohn’s.

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    Fistulas

    Abnormal connections between organs due to severe disease, like Crohn’s.

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    Migratory Polyarthritis

    A common extra-intestinal manifestation of Crohn's, affecting large joints.

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    Calcium Oxalate Stones

    Kidney stones common in Crohn’s patients due to malabsorption.

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    Right-sided Colitis

    Inflammation of the right colon; risk factor for colorectal cancer.

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    Study Notes

    Esophageal Disorders

    • GERD (Gastroesophageal Reflux Disease): Gastric juice refluxing from the stomach into the esophagus, often due to lower esophageal sphincter malfunction or decreased LES tone. The precise mechanism isn't fully understood.

    • Reflux Esophagitis: Inflammation of the esophageal lining (epithelial layer) due to refluxed stomach acid, characterized by mucosa erythema and edema, and possible erosions.

    • Reflux Esophagitis Histology: Basal zone epithelium hyperplasia and elongation of lamina propria papillae, along with increased eosinophils and neutrophils in the affected tissue.

    • Pediatric GERD: Immature lower esophageal sphincter (LES) function can contribute to GERD in infants, often accompanied by vomiting and crying.

    • GERD Risk Factors: Alcohol, smoking, obesity, fatty foods, caffeine, and hiatal hernias are associated with an increased risk.

    • GERD Symptoms: Heartburn (retrosternal burning sensation), dysphagia (difficulty swallowing), painful esophagitis, reflux into respiratory tract, asthma (adult-onset), and damage to tooth enamel.

    • GERD Treatment: Weight loss, dietary modifications (avoiding triggers like fatty foods, caffeine, chocolate, spicy foods, carbonated beverages and peppermint), and medications like histamine (H2) blockers (famotidine, ranitidine, nizatidine, cimetidine) and proton pump inhibitors (omeprazole, pantoprazole, lansoprazole, esomeprazole).

    • Potential GERD Consequences: Acid damage to the mucosa (ulcers), replacement with fibrous tissue, and esophageal strictures leading to dysphagia.

    • Ingestion of Lye: A serious case of esophageal injury where alkali substances containing sodium or potassium hydroxide are accidentally ingested most commonly by children. This usually causes liquefactive necrosis rapidly through the esophageal mucosa into the surrounding esophageal wall. Often neutralized in the stomach.

    • Barrett's Esophagus: Result of long-standing GERD causing changes in the esophageal cells. Squamous epithelium is replaced by intestinal epithelium (metaplasia).

    • Barrett's Esophagus Diagnosis: Endoscopy often done in GERD patients. If Barrett's is seen, regular surveillance endoscopy and biopsies are taken to check for carcinoma.

    • Esophageal Cancer: Squamous cell carcinoma or adenocarcinoma, increased risk with smoking. Often presents late with advanced disease/mets and progressive dysphagia (difficulty swallowing), which may start with difficulty swallowing solids and then progress to difficulty swallowing liquids. Additional symptoms include weight loss, and hematemesis.

    • Adenocarcinoma (most common in the US) usually develops in the lower one-third of the esophagus near the stomach (often associated with GERD or Barrett's).

    • Squamous cell carcinoma is more commonly found in the middle and upper esophagus (often associated with prolonged exposure to damaging substances like hot beverages, foods or alcohol):

    • Lymph nodes are frequently involved in disease spread and are typically found in the cervical (neck), mediastinal (chest) and lower (abdomen) regions.

    • Esophagitis Infectious Causes: Candida (white membranes, pseudohyphae on biopsy), HSV-1 (oral herpes, punched out ulcers); CMV (AIDS, linear ulcers)

    • Eosinophilic Esophagitis: Allergic/immune reaction to unknown antigen, characterized by eosinophil-predominant inflammation in esophageal tissue, sometimes causing dysphagia, and poor response to GERD treatment.

    • Achalasia: Inability to relax the lower esophageal sphincter due to loss of ganglion cells (specifically in Auerbach's plexus). Common causes include idiopathic cases and infectious agents such as Chagas Disease (Protozoa: Trypanosoma cruzi).

    • Achalasia Symptoms: Dysphagia to solids and liquids, symptoms are worse with obstruction to solids than liquids, bad breath, Accumulation of food in esophagus

    • Achalasia Diagnostic Testing: Esophageal dilation, sometimes "Bird's beak" on barium swallow; manometry helpful for evaluation of swallowing difficulty, and LES tone elevation in achalasia; contrast scleroderma (less LES tone)

    • Esophageal Varices: Dilated submucosal veins in the esophagus, frequently caused by portal hypertension (often due to cirrhosis). Can lead to upper GI bleeding (variceal rupture), and is a common cause of death in liver disease. Can be managed with emergent endoscopy and banding/ligation.

    • Malloy Weiss Syndrome: Damage to the esophageal mucosa, often at the Gastroesophageal junction, caused by violent/sustained vomiting. Causes painful hematemesis (vomiting of blood).

    • Boerhaave Syndrome: Transmural esophageal rupture due to severe or chronic vomiting or retching.

    • Esophageal Webs and Rings: Extension or Protrusion of the esophageal mucosa (webs common in upper esophagus and rings in lower esophagus). They can cause dysphagia (difficulty swallowing). A Schatzki Ring is an esophageal ring occurring at the squamocolumnar (mucosa boundary) junction.

    • Plummer-Vinson Syndrome: Rare; poorly understood, characterized by iron deficiency anemia, a beefy red tongue, and an esophageal web (in some cases).

    • Zenker's Diverticulum: Diverticulum (outpouching) in hypopharynx, at the junction of the esophagus to the pharynx, caused by cricopharyngeal muscle issues/difficulties and chronic high pressure in the pharynx when trying to swallow, leading to an outpouching of the mucosa.

    • Zenker's Diverticulum Symptoms: Dysphagia, and halitosis (bad breath)

    • Video Swallowing Study: A diagnostic test performed to observe swallowing in detail, often used to diagnose motility issues.

    • Liver Disease: Associated presentation and findings of various liver conditions.

    • Liver Tests (various): AST, ALT, Alkaline Phosphatase (Alk Phos), Gamma-glutamyl transpeptidase (GGT), Albumin, PT/PTT, and Glucose.

    • Alcoholic Liver Disease: Three progressive stages of damage due to alcohol. Alcoholic fatty liver disease, acute hepatitis and cirrhosis.

    • Non-Alcoholic Fatty Liver Disease (NAFLD):

      • Fatty infiltration of liver tissue
      • Two most common types: NAFL, NASH (fatty liver and steatohepatitis).
      • Often asymptomatic; may present with hepatomegaly, abnormal LFTs (AST>ALT) and sometimes progress to cirrhosis.
      • May improve with weight loss.
    • Alcoholic Hepatitis: A severe form of liver damage due to prolonged/heavy/often binge alcoholic consumption characterized by inflammatory response in the liver tissue, often due to the toxic effects of acetaldehyde, with fever, jaundice, and RUQ pain/tenderness are important indicators.

    • Mallory Bodies: Cytoplasmic inclusions indicative of alcoholic liver disease, potentially related to damaged intermediate filaments in hepatocytes.

    • Budd Chiari Syndrome: Thrombosis of hepatic veins, leading to abdominal pain, ascites, hepatomegaly. Common causes include myeloproliferative disorders, hepatocellular carcinoma, OCP use, and pregnancy.

    • Right Heart Failure: A rare cause of liver failure ("Cardiac cirrhosis") that results in chronic liver edema and a nutmeg-like mottled appearance.

    • Reye's Syndrome: A rare, serious condition in children often associated with viral infections (especially chicken pox and influenza B) where aspirin is involved, leading to rapid onset liver failure and encephalopathy.

    • a1 Anti-trypsin Deficiency: Inherited (autosomal co-dominant) condition where the function or decreased availability of α1-antitrypsin results in an imbalance between neutrophil elastase and the protective components for elastin.

    • Lung effects of a1 antitrypsin deficiency: Emphysema and lung damage associated with the imbalance of elastase.

    • Liver effects of a1 antitrypsin deficiency: Cirrhosis; this can present in the endoplasmic reticulum of hepatocytes as inclusions/polymerization of a1 anti-trypsin.

    • Liver Abscess: Walled-off infection of the liver tissue; often from bacteria; may be from abscess forming organisms like Entamoeba histolytica (protozoa) resulting in bloody diarrhea.

    • Viral Hepatitis: Hepatitis A, B, C, D and E; infection types; elevated AST/ALT often higher than 1,000, symptoms vary, with hyperbilirubinemia and jaundice being possible associated indicators; severe cases present with abnormalities in coagulation tests (PT/PTT), low albumin, and hypoglycemia.

    • Autoimmune Hepatitis: An autoimmune inflammatory response in the liver tissue, often appearing more commonly in women in their 40s and 50s. Symptoms are variable and may be asymptomatic initially; possible range: asyptomatic → acute liver disease → cirrhosis

    • Important antibodies for diagnosis include anti-nuclear antibodies (ANAs) and anti-smooth muscle antibodies (ASMAS). These are also associated with other autoimmune disorders.

    • Tylenol Overdose: Overdose with acetaminophen (APAP) leads to severe liver failure (hepatic necrosis), often from the accumulation of a toxic metabolite called NAPQI. Treatment often involves use of activated charcoal to reduce absorption, and N-acetylcysteine to replenish glutathione, that can be used to prevent liver damage.

    • Shock Liver (Ischemic Hepatitis): Diffuse liver injury due to (hypo)perfusion; often seen in ICU patients with shock from any cause. Characterized by marked elevation of AST and ALT. Usually self-limited.

    • Cirrhosis (various): End-stage, irreversible liver disease from various causes, such as viral hepatitis (especially B and C), alcohol misuse, or NAFLD, often resulting in a shrunken liver with fibrosis and nodules.

      • Key symptoms: Hyperammonemia, Jaundice, hypoglycemia, coagulopathy, and hypoalbuminemia. Symptoms vary though, often based on the cause.
      • Management: Often involves sodium restriction; fluids and medicine, and sometimes surgery/transplant.
    • Portal Hypertension: High pressure in the portal vein due to obstruction/blockage, often caused by cirrhosis, leading to a complicated venous system.

    • Ascites and Edema: Both present from portal hypertension often associated with low albumin levels, resulting in accumulation of fluid in the peritoneal cavity (ascites).

    • Venous Collaterals (various): Dilated, engorged veins. These are abnormally formed vessels that connect different parts of the circulatory system. They may develop in patients with long-standing portal hypertension (often seen in cirrhosis).

    • Caput Medusa: A key finding in liver disease, where the venous collaterals around the umbilicus become distended and prominent.

    • Hypersplenism: Increased size/pressure in spleen leading to low platelet counts, typically caused by portal hypertension, often resulting in low platelet counts.

    • Portal Vein Thrombosis: A rare cause of portal hypertension due to acute onset of abdominal pain; splenomegaly (palpable spleen). May lead to gastric varices with bleeding.

    • Spontaneous Bacterial Peritonitis (SBP): Ascitic fluid infection, often caused by bacteria. It presents with fever and abdominal pain/tenderness, and diagnosed with elevated PMNs (polymorphonuclear leukocytes) in the ascitic fluid.

    • MELD Score: A point scoring system measuring the estimated 3-month mortality risk from liver disease using bilirubin, creatinine, and INR (international normalized ratio).

    • Child-Pugh classification: A scoring system classifying cirrhosis (severity of the disease) using five variables, and it estimates prognosis for the patient with a scoring range for different conditions (Mild, Moderate, Severe conditions)

    • Liver Tumors (various): Hepatocellular Carcinoma (HCC), most common primary liver tumor; often associated with chronic liver disease, frequently in patients with hepatitis B or C, or alcoholism.

    • Hepatic Adenoma: Benign epithelial tumors, commonly found in women (20s-40s). Typically asymptomatic, often detected during work-up, and potentially associated with oral contraceptive or anabolic steroid usage; can rupture, often during pregnancy.

    • Hepatic Hemangioma: Most common benign liver tumor; composed of vascular spaces (often filled with thrombus), often identified incidentally during imaging/surgery.

    • Hepatic Angiosarcoma :Rare; high-grade malignant vascular tumor with symptoms like abdominal pain, jaundice, ascites, and weight loss. Associated with toxic exposures like vinyl chloride, or arsenic.

    • Metastasis to Liver: Often from other cancers, like GI (colon, stomach and pancreas), breast, and lung cancers. Can be assessed and identified on imaging studies and tests.

    • Wilson's Disease: Inherited autosomal recessive disorder; a deficiency of ATP7B gene; resulting in impaired copper metabolism and abnormal copper accumulation.

    • Hemochromatosis: Inherited autosomal recessive disorder of iron metabolism; iron accumulates in various organs.

    • Gallstones (various):

    • Cholesterol Gallstones: Radiolucent; often in 40 year olds; often seen with elevated estrogen levels; increased in people who've lost weight rapidly.

    • Bilirubin stones: Radiopaque, caused by excess bilirubin (unconjugated). Common causes include extravascular hemolysis, impaired bilirubin conjugation (various liver conditions) and bacterial glucuronidases (infections) Risk factors and diseases associated with gallstones.

      • Key causes are many. Key risk factors are more common in Western Caucasians, Hispancis and Native Americans; less common in Eastern Europeans, Japanese and African Americans. Some possible risk factors for increasing cholesterol in bile include excess estrogen, pregnancy/multiparity, obesity and rapid weight loss.
      • Bile salt synthesis issues and poor absorption may also play a role in gallstone formation.
        • Some diseases that can affect bile salt synthesis and production include cirrhosis or Crohn's Disease (inflammatory ileum).
    • Cystic Fibrosis; Crohn's, and other conditions.

    • Gallstone Disease: Can present both asymptomatic and as an acute or chronic event. Chronic gallstone disease often involves inflammation of the gallbladder.

      • Procedures to consider: -Surgery to remove the gall bladder (cholecystectomy) is often done to treat gallstones, • Ursodeoxycholic Acid (UDCA): Rarely used as an intervention to dissolve cholesterol gallstones.
    • Biliary Colic: Episodes of RUQ pain, that often radiate to the right shoulder blade, can be due to gallbladder contracting against impacted gallstones in the cystic duct, often worsened by eating, typically fatty foods. Severe enough to suggest that the patient may have gallstones as the cause.

    • Acute Cholecystitis: Inflammation of the gallbladder often from gallstones obstructing the cystic duct, leading to obstruction and impaired blood supply, causing significant pain for the patient. Presents often with fever, nausea, and tenderness, especially in the RUQ (right upper quadrant), possible tenderness worsens with inspiration (Murphy Sign), and possible complication of rupture.

    • Choledocholithiasis: The presence of gallstones in the common bile duct, results in obstruction to the bile; important indicators include:

      • Jaundice
      • Elevated alk Phos; elevated AST/ALT
    • May lead to ascending cholangitis -Treatment: Antibiotics, Endoscopic sphincterotomy (ERCP) and possible stent insertion.

    • Chronic Cholecystitis: Long-standing inflammation of the gallbladder wall, often associated with a porcelain gallbladder (calcification), which is a risk for gall bladder carcinoma.

    • Acalculous cholecystitis: Acute inflammation of the gallbladder, but without the presence of gallstones.

    • Can occur in ill or critically ill patients related to shock or ischemia.

    • AIDS Cholangiopathy: Rare complication of end-stage HIV infection.

    • Ascending Cholangitis : Infection of the biliary tree associated with common bile duct obstruction (often from gallstones). Can result in severe signs of infection including Charcot's triad (Fever, abdominal pain and jaundice) and sometimes Reynolds' pentad (Symptoms of the Triad plus confusion and hypotension) and diagnostic findings often involving elevated White Blood Count; Cholestasis (marked increase in alk Phos, AST/ALT), and elevated Cconjugated bilirubin (that are detectable).

    • ERCP (Endoscopic Retrograde Cholangiopancreatography): A minimally invasive procedure combining endoscopy and fluoroscopy to visualize and sometimes manage biliary diseases. Enables imaging of the bile duct system, and can enable some procedures to be done during evaluation.

    • Gallstone Ileus: Massive gallstone erodes through gallbladder wall, creating fistula, resulting in bowel obstruction. Typically identified on Imaging studies like X-rays or CT scans.

    • Gallstone Pancreatitis: Stone in the common bile duct blocks pancreatic flow; can lead to acute pancreatitis.

    • Gallbladder Carcinoma: A rare malignancy, often associated with chronic inflammation and gallstone disease (especially a porcelain gallbladder).

    • Biliary Atresia: An early-onset idiopathic disorder in/of newborns involving obstruction of the biliary tract, and the absence of a common bile duct, typically accompanied by jaundice and acholic stools, that requires specific intervention, like surgery (Kasai procedure)

    • Biliary Cirrhosis: A chronic condition associated with chronic biliary obstruction, leading to progressive liver damage. Causes include gallstones, pancreatitis, or biliary strictures.

    • Primary Biliary Cirrhosis (PBC): Autoimmune disorder of the biliary system, with a T-cell attack on the small interlobular bile ducts, resulting in inflammation and often scarring/cirrhosis (without extrahepatic obstruction).

    • Primary Sclerosing Cholangitis (PSC): Autoimmune disorder, often associated with IBD (inflammatory bowel disease, especially ulcerative colitis). Inflammation, fibrosis, and strictures of intra and extrahepatic bile ducts are key pathological features.

    • Cholangiocarcinoma: A rare cancer of the bile ducts, commonly arising in the background of an inflammatory/obstructive process. Key risk factors include PSC (primary sclerosing cholangitis), and chronic infection/infection with Clonorchis sinensis (Chinese liver fluke)

    • Gastric Disorders: (Various):

    • Gastritis: Inflammation of the stomach lining; often classified into acute or chronic types; symptoms range mildly to severely. Acute gastritis may be caused by too much acid, loss of protection from this acid, and various causes. Chronic gastritis may be related to H. Pylori infection (Type B), or an autoimmune response (Type A), resulting in Pernicious Anemia. Diagnostic tests for H. Pylori (Urea breath test, Stool Antigen, Biopsy) and other procedures.

    • Curling's Ulcer: Stress ulcer in burn patients.

    • Cushing's Ulcer: Stress ulcer in head trauma patients

    • Stress Ulcers: More commonly seen in patients who are critically ill. Prophylactic therapy with Proton Pump Inhibitors is common.

    • Malabsorption: A condition causing the body to be unable to absorb adequate nutrients through the intestinal tract resulting in various symptoms. Key findings: Diarrhea, weight loss, and vitamin/mineral deficiencies. Common causes of fat malabsorption are from possible damage/loss of pancreatic enzymes, impaired bile acid function or resection. May include specific testing of stools for pH (less than 6), carbohydrate tolerance (Clinitest), steatorrhea, and D-xylose.

    • Celiac Sprue: Autoimmune disease resulting in destruction of small intestinal villi; resulting from a reaction triggered by Gluten. Important findings include:

    • Demidation of gliadin, a protein in Gluten, triggered an immune response.

    • Important antibodies: Anti-gliadin, Anti-tissue transglutaminase, Anti-endomysial (most useful for screening)

    • Symptoms: Flatulence, bloating, chronic diarrhea, steatorrhea, and children may present with failure to thrive or iron deficiency anemia.

    • Tropical Sprue: Malabsorption disorder found predominately in tropical regions; key difference from celiac sprue is that tropical sprue affects the entire small intestine, different than celiac that's typically limited to the duodenum. It's often associated with infectious agents, and sometimes a deficiency of Folate and B12. Specific testing for symptoms often involves the diagnosis/testing involved for the underlying infectious causes.

    • Whipple's Disease: Infectious disease that involves the Small Intestine; it often presents with symptoms associated with malabsorption; important findings include diagnostic findings from biopsies and evaluations of the small intestine revealing PAS-positive foamy macrophages. Treatment typically includes long-term antibiotics.

    • Lactose Intolerance: Inability to digest lactose adequately; caused often by a lack of lactase (an enzyme for lactose digestion). This leads to symptoms like bloating, abdominal pain, and diarrhea, often worsened following ingesting lactose containing foods and fluids.

    • Pancreatic Insufficiency: Condition causing inadequate or incomplete absorption, frequently caused by Cystic Fibrosis, chronic pancreatitis, or other causes of issues with pancreatic enzyme production. Symptoms and testing: Steatorrhea; Deficiency of fat-soluble vitamins; testing for malabsorption for diagnosis and possible treatment.

    • Peptic Ulcer Disease (PUD): A common condition, the presence of lesions in both the stomach and duodenum, that can be related to H. pylori, excessive acid damage from NSAIDs. Can be complicated by bleeding, and perforation

    • Gastric Carcinoma: A cancer that starts within the stomach. Commonly found in the stomach antrum, sometimes in the mucosa or body. The main risk factor associated with gastric carcinoma is H. pylori, followed by chronic or autoimmune gastritis (Type A). Can present with early satiety; vague symptoms may occur until the cancer is advanced. Treatment choices include surgery, and chemotherapy/radiation.

    • Important to consider when performing diagnostics is that gastric ulcers are more commonly found in the lesser curvature than the greater curvature.

    • Diagnostic evaluation of these patients may commonly involve EGD (Esophagogastroduodenoscopy); important to note that only about 25% of cases will result in a pathology. Further testing, may be required based on a patient's presentation and risk factors, to identify the cause.

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