GI Path Flashcards
Symptoms: Left lung hypoplasia, herniation of stomach and spleen into thorax. Pathophysiology: Failure of pleuroperitoneal fold fusion.
Congenital diaphragmatic hernia
Symptoms: Failure of lateral body folds to fuse; extrusion of abdominal contents through abdominal folds. Not covered by peritoneum.
Gastrochisis
Symptoms: Persistence of herniation of abdominal contents into umbilical cord, covered by PERTIONEUM. Pathophysiology:
Omphalocele
Symptoms: Most common subtype is blind upper esophagus with lower esophagus connected to trachea. Results in cyanosis, choking and vomiting with feeding, and polyhydramnios. Lab Values: Air in the stomach coming from the trachea.
Tracheoesophageal fistula
Symptoms: Hypertrophy of the pylorus causes obstruction. Palpable “olive” mass in epigsatric region and nonbilious projectile vomiting at ~2 weeks of age. Empties liquids not solids.Lab Values: Hypocholemic metabolic alkalosis. Pathophysiology: 1/600 live births; first born males.Treatment: Surgical incision.
Congenital pyloric stenosis
Symptoms: Damages ligamentum teres (fetal umbilical veins) Pathophysiology: Connects liver to anterior abdominal wall.
Damage to falciform ligament
Symptoms: Damages the portal triad (hepatic artery, portal vein, common bile duct). Pathophysiology: Connects liver to duodenum; greater and lesser sacs.
Damage to hepatoduodenal ligmaent
Symptoms: Damages gastric arteries. Pathophysiology: Connects liver to lesser curvature of stomach; seperates right greater and lesser sacs.
Damage to gastrohepatic ligament
Symptoms: Damages gastroepiploic arteries. Pathophysiology: Connects greater curvature and transverse colon.
Damage to gastrocolic ligament
Symptoms: Damages short gastric arteries. Pathophysiology: Connects greater curvature nad spleen.
Damage to gastrosplenic ligament
Symptoms: Damages splenic artery and vein. Pathophysiology: Connects spleen to posterior abdominal wall
Damage to spenorenal ligament
Symptoms: Viral hepatitis
Periportal hepatitis
Symptoms: Affected first by ischemia, has P-450 system, more sensitive to toxic injury and alcoholic hepatitis.
Centrilobular hepatitis
Lab Values: “Hourglass stomach.” Pathophysiology: Most common diaphragmatic hernia. GE junction is dipslaced. Abdominal structures enter thorax. Due to defect in pleuroperitoneal membrane.
Sliding hiatal hernia
Symptoms: Hypoplastic left lung. Lab Values: Bowl sounds in thorax. Pathophysiology: GE junction is normal; stomach cardia (near esophagus) moves into thorax.
Paraesophageal diaphragmatic hernia
Symptoms: Occurs in infants due to patent processus vaginalis. May result in hydrocele. More common in males. Lab Values: Herniated gut is covered in all 3 layers of spermatic fascia. Pathophysiology: Herniation throug hinternal (deep) inguinal ring, external (superficial) inguinal ring, and into the scrotum. Later to inferior epigastric artery.
Indirect inguinal hernia
Symptoms: Usually in older men. Lab Values: Herniated gut is only covered by external spermatic fascia. Pathophysiology: Herniation through the inguinal triangle. Medial to the inferior epigastric artery. Goes through only the external (superficial) inguinal ring.
Direct inguinal hernia
Symptoms: More common in women. Leading cause of bowel incarceration. Pathophysiology: Herniation below the inguinal ligament through the femoral canal; lateral to pubic tubercle.
Femoral hernia
Symptoms: Benign parotid tumor; hetertropic salivary tissue trapped in a lymph node, or surrounded by lymphatic tissue.
Warthin’s tumor
Symptoms: Most common parotid tumor, MOBILE, painless (no nerve invasion, and benign with high rate of recurrence due to irregular margins (hard to completely remove surgically).
Pleomorphic salivary adenoma
Symptoms: Most common malignant tumor of parotid gland. Will present with pain due to facial nerve invasion.
Mucoepidermoid carcinoma
Symptoms: Globus hystericus or globus pharyngis; feeling of having a “lump” in one’s throat without clinical or radiographic evidence, often triggered by strong emotion (benign).
Globus sensation
Symptoms: Failure of relaxation of the LES due to loss of myenteric (Auerbach’s) plexus. Uncoordinated peristalsis leading to progressive dysphagia (firist solids, later liquids). Lab Values: High LES opening pressure. Barium swallow shows dilated esophagus with an area of distal stenosis. “Bird’s beak” sign.* Pathophysiology: Associated with increase risk of esophageal squamosu cell carcinoma. Secondary achalasia may arise from Chagas’ disease. Scleroderma has esophageal dysmotility with pressure proximal to LES.
Achalasia
Symptoms: Heart burn and regurgitation upon lying down. May also present with noctural cough and dyspnea. ADULT ONSET ASTHMA Lab Values: Esosinophilia. Pathophysiology: Leads to Barrett’s esophagus (columnar metaplasia).
Gastroesophageal reflux disease
Symptoms: Massive hematemesis of submucosal veins of lower 1/3rd of esophagus. Worse prognosis and more bleeding than Mallory-Weiss syndrome. Pathophysiology: History of alcoholism; portal hypertension. Due to flow via left gastric vein. Treatment: Balloon tamponade.
Esophageal varices
Symptoms: Mucosal lacerations at the gastroesophageal junction due to severe vomiting. Leads to PAINFUL hematemesis (vs painless = esophageal varices). Found in alcoholics and bulimics.
Mallory-Weiss syndrome
Symptoms: Transmural esophageal rupture due to violent retching.
Boerhaave syndroem
Symptoms: Associated with lye (sodium hydroxide) and acid reflux.
Esophageal strictures
Symptoms: Associated with GERD, infection (HSV-1: punched-out ulcers; CMV: linear ulcers; Candida: white speudomembrane), or chemical ingestion (radiation). Lab Values: Must see eosinophils on biopsy for reflux esophagitis. Pathophysiology: Leads to Barrett’s esophagus (columnar metaplasia).
Esophagitis
ymptoms: Female with triad of dysphagia (due to esophageal webs), glossitis, iron deficiency anemia. Pathophysiology: Increased incidence of squamous cell carcinoma of esophagus.
Plummer-Vinson syndrome
Pathophysiology: Glandular metaplasia; replacement of stratified squamous epithelium with columnar epithelium in distal esophagus. Due to GERD. Associated with esophagitis, ulcers, and increased risk of esophageal adenocarcinoma.
Barrett’s esophagus
Symptoms: Lower 1/3rd of the esophagus. Pathophysiology: Requires Barrett’s esophagus metaplasia. Due to esophageal web/esophagitis, Zenker’s diverticula. Usually white male.
Esophageal adenocarcinoma
Symptoms: Upper 2/3rds of the esophagus. (usually mid) Pathophysiology: Due to alcohol, achalasia, cigarettes/tobacco, prior lye (sodium hydroxide) ingestion. Usually African-American.
Esophageal squamous cell carcinoma
Symptoms: Diarrhea, steatorrhea, weight loss, weakness, dermatitis herpetiformis (vesicular lesions on elbows). Commonly seen in patients on a high fiber diet for first time. Lab Values: HLA-B8, DR, and DQ. IgA antibodies to gliadin and tissue tansglutaminase. Blunting of villi, lymphocytes in lamina propria, crypt hyperplasia. Screen by serum transglutaminase Ab. Pathophysiology: Affects proximal small bowel. Autoimmune mediated hypersensitivity to gliadin leading to steatorrhea. Decreased absorption in jejunum. Moderate increase of T-cell lymphoma risk.
Celiac sprue
Symptoms: Diarrhea, steatorrhea, weigth loss, weakness. Lab Values: Blunting of villi, crypt hyperplasia. Pathophysiology: Due to bacterial overgrowth. Can affect entire small bowel. Treatment: Antibiotics.
Tropical sprue
Symptoms: Diarrhea, arthralgias, cardiac and neurological (altered mental status, peripheral neuropathy)symptoms. Occurs in older men.* Lab Values: PAS-positive macrophages in intestinal lamina propia, mesenteric nodes. Pathophysiology: Infection with Tropheryma whippeli (gram positive). Treatment: Antibiotics.
Whipple’s disease
Symptoms: Osmotic diarrhea. Self-limited lactase deficiency following injury (e.g. viral gastroentritis). Lab Values: Normal-appearing villi. Absence of blood glucose elevation with administration indicates deficiency.
Lactase deficiency
- Symptoms: Malabsorption of fat and fat-soluble vitamins (ADEK). Lab Values: Increase neutral fat in stool. Pathophysiology: Due to CF, obstructing cancer, and chronic pancreatitis. Treatment: *
Pancreatic insufficiency
Symptoms: Presents in early childhood with malabsorption and neurological manifestations. Lab Values: Fat accumulation in enterocytes. Pathophysiology: Decreased synthesis of apo B; inability to generate chylomycrions. Low blood cholesterol, VLDL.
Abeta-lipoproteinemia
Symptoms: Erosive gastritis. Lab Values: PMNs. Pathophysiology: Disruption of mucosal barrier leads to inflammation. Can be caused by physiological stress, NSAIDS (decreased PGE2), alcohol, uremia, burns (Curling’s ulcer), and brain injury (Cushing’s ulcer).
Acute gastritis
Symptoms: Burn resulting in acute erosive gasttritis. Pathophysiology: Low plasma volume leads to sloughing of gastric mucosa.
Curling’s ulcer
Symptoms: Brain injury resulting in acute erosive gastritis. Lab Values: Elevated ICP. Pathophysiology: Increased vagal stimulation leads to elevated ACh and higher H+ production.
Cushing’s ulcer
Symptoms: Nonerosive gastritis of the fundus/body. Lab Values: Lymphocytes, plasma cells, macrophages. Hypochlorhydria. Pathophysiology: Due to autoimmune disorders characterized by autoantibodies to parietal cells, pernicious anemia, and achlorhydria. Increased risk of gastric adenocarcinoma.
Chronic gastritis type A
Symptoms: Nonerosive gastritis of the antrum. Lab Values: Chronic “active” gastritis; PMNs present. Pathophysiology: Most common type; due to H. hyplori infection. Increased risk of MALToma and gastric adenocarcinoma.
Chronic gastritis type B
Symptoms: Protein losing enteropathy (peripheral edema) and diarrhea. Lab Values: Cerebriform appearance of rugae. Pathophysiology: Gastric hypertrophy with protein loss, parietal cell atrophy, and increased mucous cells. Precancerous. Rugae of stomach are so hypertrophied that they look like brain gyri.
M_n_trier’s disease
Symptoms: Often presents with acanthosis nigricans. Early satiety (due to mass in the stomach). Weight loss and anorexia. Lab Values: Resembles colonic adenocarcimona with malignant ulcers on lesser curvature of the stomach (heaped, irregular borders with necrotic base). Pathophysiology: Liver and nodal metastasis. Due to nitrosamines (smoked food), pickled vegetables, achlorhydria, chronic gastritis, type A blood.
Gastric adenocarcinoma intestinal type
Symptoms: Often presents with acanthosis nigricans. Weight loss and anorexia. Krukenberg’s tumor on metastasis. Lab Values: Signet ring cells; grossly thickened and leathery stomach (linitis plastica).
Gastric adenocarcinoma diffuse type
Symptoms: Sudden appearance of multipe seborrheic keratosis indicating an underlying malignancy (GI especially gastric adenocarcinoma or lymphoid).
Sign of Leser-Trelat
Symptoms: Nontender enlarged left supraclavicular lymph node. Pathophysiology: Sign of gastric adenocarcinoma metastasis.
Virchow’s node
Symptoms: Subcutaneous periumbilical metastasis. Pathophysiology: Sign of gastric adenocarcinoma metastasis.
Sister Mary Joseph’s nodule
Symptoms: Bilateral metastasis to ovaries. Abundant mucus, signet ring cells. Pathophysiology: Diffuse type gastric adenocarcinoma metastasis.
Krukenberg’s tumor
Symptoms: Pain GREATER with meals. Weight loss. Older patients. Risk of hemorrage (posterior>anterior). Most common cause of upper GI bleeds. Lab Values: Positive urease breath test. Goes down to the muscular layer (irreversible unlike stress ulcers). Well defined ulcer borders and radiating folds (vs carcinoma). Pathophysiology: 70% caused by H. pylori infection. Chronic NSAID use also implicated. Due to decreased mucosal protection against gastric acid. Increased risk of gastric carcinoma. Treatment: PPI, clarithromycin, and amoxicillin (or metronidazole).
Gastric ulcer
Symptoms: Pain DECREASES with meals. Weight gain. Risk of hemorrhage (posterior > anterior) and perforation ( anterior > posterior). Lab Values: Hypertrophy of Brunner’s glands. Clean, “punched-out” margins unlike raised/irregular margins of carcinoma. No increased risk of carcinoma.* Pathophysiology: 100% caused by H.pylori infection. Due to elevated gastric acid secretion (Zollinger-Ellison sndrome) or decreased mucosal protection. Associated with blood group O. More common than gastric ulcers. Treatment: PPI, clarithromycin, and amoxicillin (or metronidazole).
Duodenal ulcer
Symptoms: Mucoid diarrhea. Migratory polyarthritis, erythema nodosum, immunologic disorders, kidney stones. May also have strictures, perianal fistulas and fissures, malabsorption and nutritional depletion (B12). Lab Values: Transmural inflammation. COBBELSTONE MUCOSA (linear ulcers), creeping fat, bowel wall thickening. String sign. Noncaseating granulomas and lymphoid aggregates (TH1). Pathophysiology: Disorder response to intestinal bacteria. Affects terminal ileum and colon but can occur anywhere in the GI tract. Skip lesion, rectal sparing. Increased risk of colorectal cancer. Treatment: Corticosteroids, infliximab.
Crohn’s disease
Symptoms: Blood diarrhea. Malnutrition, toxic megacolon, colorectal carcinoma (worse with right-sided or pancolitis). Assocaited with pyoderma gangrenosum, ankylosing spondylitis, uveitis, primary sclerosing cholangitis. Lab Values: Mucosal and submucosal inflammation only. Friable mucosal pseudopolyps with freely hanging mesentary. Loss of haustra; “lead pipe” appearance on imaging. NO GRANULOMAS! Pathophysiology: Autoimmune (HLA-B27). Continuous colonic lesions, always with rectal involvement. Treatment: Sulfasalazine, 6-mercaptopurine, infliximab, colectomy.
Ulcerative colitis
Symptoms: Recurrent abdominal pain asosciated with paint hat improves with defection, change in stool frequency, change in apperance of stool. May present with diarrhea, constipation, or alternating. Lab Values: No structural abnormalites. Chronic symptoms. Pathophysiology: Generally caused by stress (or infection). Treatment: Treat symptoms.
Irritable bowel syndrome
Symptoms: All age groups. Initial difuse periumbilical pain (T10) that localized at McBurney’s point (1/3rd distance from ASIS to ubilicus). Nausea, fever; may perforate and cause pertionitis. Lab Values: Must see PMNs in the muscularis mucosa. Pathophysiology: In kids: lymphoid hyperpalsia after viral infection, enterobius vermicularis. Adults: obstruction, fecalith.
Appendicitis
Symptoms: Blind pouch protruding from alimentary tract that communicates with the lumen of the gut. Most often in signmoid colon. Lab Values: True has all 3 gut wall layers (Meckel’s); false have only mucosa and submucosa. * Pathophysiology: Most diverticula (esophagus, stomach, duodenum colon) are acquired and termed “false” in that they lack or have an attenuated muscularis externa. Occurs especially where vasa recta perforate muscularis externa.
Diverticulum
Symptoms: Many false diverticula. Common (>50%) in 60+ years of age. Often asymptomatic or assoocitaed with vague discomfort and/or painless rectal bleeding. Pathophysiology: Caused by increased intraluminal pressure and focal wekaness in colonic wall. Assocaited with low-fiber diet. Most common in sigmoid colon.
Colonic diverticulosis
Symptoms: Elderly. Inflammation of diverticula cuasing LLQ pain, fever, leukocytosis. May perforate and cause peritonitis, abscess formation, or bowel stenosis. May cause bright red rectal bleeding. May also cause colovesical fistula => pneumaturia. Pathophysiology: “Left-sided appendicitis.” Treatment: Antibiotics.
Diverticulitis
Symptoms: False diverticulum. Herniation of mucosal tissue at junction of pharynx and esophagus. Presneting symptoms are halitosis, dysphagia, obstruction. Lab Values: Only mucosa and submucosa.
Zenker’s diverticulum
Symptoms: True diverticulum. Causes melena, RLQ pain, intussusception, volvulus, or obstruction near the terminal ileum. Lab Values: Ectopic acid-secreitng gastric mucosa and/or pancreatic tissue. 2 inchs long, 2 feet from ileocecal valve, 2% of the population, first 2 years of life, 2 types of epithelia. Dx by pertechnetate study ectopic uptake. Pathophysiology: Persistence of the vitelline duct or yolk stalk. Most common congenital anomaly of the GI tract.
Meckel’s diverticulum
Symptoms: Cystic dilation of vitelline duct.
Omphalomesenteric cyst
Symptoms: Compromises blood supply. Repeated episodes of a child doubling over in pain with every migrating motor complex. Lab Values: Currant jelly stools. Pathophysiology: Unusual in adults (associated with intraluminal mass or tumor). Majority of causes occur in children (usually idoipathic; may be adenovirus). “Telescoping” of 1 bowel segment into distal segment, commonly at ileocecal junction.
Intussusception
Symptoms: Presents with constipation (not moving any food contents and can’t pass gas). Occurs in small bowel. Lab Values: Step ladder or staircase appearance. Pathophysiology: Generally during surgery.
Iatrogenic volvulus
Symptoms: Twisting of portion of bowel around its mesentary. Can lead to obstruction and infarction. May ooccur at cecum and sigmoid colon where there is redundant mesentery. Usually in elderly. Lab Values: Step ladder or staircase appearance.
Sigmoid volvulus
Symptoms: Early bilious vomiting in an infant with proxmial stomach distention. Lab Values: Double-bubble sign on x-ray.
Duodenal atresia
Symptoms: Meconium plug obstructs intestine, preventing stool passage at birth. Pathophysiology: Associated with cystic fibrosis.
Meconium ileus
Symptoms: Necrosis of GI mucosa and possible perforation. Colon usually involved but can involve entire GI tract. Pathophysiology: Associated with prematurity (weak immune system).
Necrotizing enterocolitis
Symptoms: Pain 30-40 minutes after eating (doesn’t respond to antacids) and weight loss; bloody stools. Typically affects elderly. Lab Values: Transmural infarction. Pathophysiology: Commonly at splenic flexure and distal colon. History of MI, atrial fibrillation, and atherosclerosis. Treatment: Bowel ressection.
Ischemic colitis
Symptoms: Acute bowel obstruction, commonly from a recent surgery. Can have well-demarcated necrotic zones and fibrous bands. Pathophysiology: Most common cause of small bowel obstruction.
Post operative adhesion
Symptoms: Tortuous dilation of vessels leading to right sided colon bleeding in elderly patient. Lab Values: Confirmed by angiography. Pathophysiology: More often found in cecum, terminal ileum, and ascending colon.
Angiodysplasia
Symptoms: Most common non-neoplastic polyp in colon (>50% in rectosigmoid colon);.
Hyperplastic colonic polyps
Symptoms: A child with a solitary rectal polyp that prolapses and bleeds.
Juvenile colonic polyps
Symptoms: Multiple juvenile polyps in stomach and colon, increase risk of adenocarcionma.
Juvenile polyposis syndrome
Symptoms: Nonmalignant hamartomatous polyps throughout GI tract, hyperpigmented mouth, lips, hands, and genitalia. Pathophysiology: Autosomal dominant. Assocaited with visceral malignancies (lung, pancreas, breast, uterus, colon). POLYPS ARE NOT CANCEROUS.
Peutz-Jeghers syndrome
Symptoms: Thousands of polyps; pancolonic; always involve rectum. Lab Values: Must have at least 100 to make a diagnosis. Pathophysiology: Autosomal dominant mutation of APC gene on c5q. Two hit hypothesis. 100% progress to CRC in the 30s or earlier. Treatment: Total colectomy.
Familial adenomatous polyposis
Symptoms: Familial adenomatous polyposis, osteomas and soft tissue tumors, retinal hyperplasia, epidermal inclusion cysts, fibromatosis, and impacted/supernumerary teeth. Lab Values: Must have at least 100 to make a diagnosis.
Gardner’s syndrome
Symptoms: Familial adenomatous polyposis plus malingant CNS tumor (gliomas). Lab Values: Must have at least 100 to make a diagnosis
Turcot’s syndrome
Symptoms: Rectosigmoidal > ascending > descending in frequency. Iron deficiency anemai in males (>50 years of age) and postmenopausal women raises suspicion. Screen patietns > 50 years of age with stool occult blood test and colonsocopy. Lab Values: CEA tumor marker. “Apple core” lesion on barium enema x-ray. Ascending presents with exophytic mass, irony deficiency, and weight loss. Descending presents with infiltration mass, partial obstruction, colicky pain, hematochezia. Pathophysiology: *3rd most common and 3rd most deadly in US. Most patients are >50 years of age and 25% have family history. Increased risk by IBD, Streptococcus bovis bactremia, tobacco use, large villous adenomas, juvenile polyposis syndrome, Peutz-Jeghers syndrome.
Colorectal cancer
Symptoms: 80% progression to CRC. Proximal colon always involved. Increased risk of endometrial and ovarian carcinoma. Lab Values: Multiple areas of dysplastic mucosa. Pathophysiology: Autosomal dominant mutation of DNA mismatch repair genes (microsatellite instability).
Hereditary nonpolyposis colorectal cancer
Symptoms: Recurrent diarrhea, salivation, cutaneous flushing of face, asthmatic wheezing/bronchospasms, telangiectasia. Right sided heart failure (sacral/pedal edema, nutmeg liver, elevated JVP). Lab Values: 5-hydroxyindoleatic acid (5-HIAA) in urine. “Defnese core bodies “ on EM. Stain with synaptophysin, chromogranin. Pathophysiology: Rare syndrome caused by carcinoid tumors (neuroendocrine/neural crest cells), especially metastatic small bowel tumors, which secrete high levels of serotonin (5-HT) . Not seen if tumor is limited to GI tract (5-HT undergoes first-pass metabolism in liver). Most common tumor of appendix and small bowel.
Carcinoid syndrome
Pathophysiology: Two pathways. 1st is the microsatellite instability (15%); DNA mismatch repair gene mutations lead to sporadic and HNPCC syndrome Mutations oaccumulate, but no defined morphological correlaties. 2nd is the APC/beta-catenin (chromosomal instability) pathway (85%). Loss of APC gene (decreased intracellulr adhesion and increased proliferation) => K-RAS mutation (unregulated intracellular signal transduction, adenoma) => loss of p53 (carcinoma).
Moecular pathogensis of colorectal cancer
Symptoms: Esophageal varices (hematemesis, melena), splenomegaly, caput medusae, ascites, portal hypertensive gastropathy, hemorrhoids. Pathophysiology: Portosystemic shunts alleviate portal hypertension; esophageal varices, caput medusae, hemorrhoids.
Portal hypertension
- Symptoms: Coma, scleral icterus, fetor hepaticus (musty breath), spider nevi, gynectomastia, jaundice, testicular atrophy, asterixis, bleeding tendency (low clotting factors), anemia, pedal edema. Lab Values: ** Pathophysiology: ** Treatment: *
Liver failure
- Symptoms: Viral hepatitis (ALT>AST), alcoholic hepatitis (AST> ALT) Lab Values: ** Pathophysiology: ** Treatment: *
Elevated AST and ALT
- Symptoms: Various liver diseases; increase with heavy alcohol consumption. Lab Values: ** Pathophysiology: ** Treatment: *
Elevated GGT (gamma-glutamyl transpeptidase)
- Symptoms: Obstructive liver disease (hepatocellular carcinoma), bone disease, bile duct disease. Lab Values: ** Pathophysiology: ** Treatment: *
Elevated alkaline phosphatase
- Symptoms: Acute pancreatitis, mumps. Lab Values: ** Pathophysiology: ** Treatment: *
Elevated amylase
- Symptoms: Acute pancreatitis. Lab Values: ** Pathophysiology: ** Treatment: *
Elevated lipase
- Symptoms: Nodules < 3 mm, uniform size. Due to metabolic insult (e.g., alcohol, hemochromatosis, Wilson’s disease). Lab Values: ** Pathophysiology: ** Treatment: *
Micronodular cirrhosis
- Symptoms: Nodules > 3 mm, varied size. Usually due to significant liver injury leading to hepatic necrosis (e.g., postinfectious or druginduced hepatitis). Lab Values: ** Pathophysiology: Leads to portal hypertension, liver failure, hepatocellular carcionma. Treatment: *
Macronodular cirrhosis
- Symptoms: *Childhood hepatoencephalopathy; mitochondrial abnormalities, microvesicular steatosis, hypoglycemia, vomiting, hepatomegaly, coma. * Lab Values: ** Pathophysiology: Associated with viral infection (VZV and influenza B) that is treated with salicylates. Aspirin metabolites decrease beta oxidation by reversible inhibiton of mitochondrial enzyme. Contraindicate aspirin in children, use acetaminophen. Treatment: *
Reye’s syndrome
- Symptoms: ** Lab Values: ** Pathophysiology: *Associated with obesity, hyperinsulinemia, insulin resistance, and DM2. * Treatment: *
Nonalcoholic hepatic steatosis
- Symptoms: ** Lab Values: Macrovesicular fatty change that may be reversible with alcohol cessation. Pathophysiology: Short-term change with moderate alcohol intake. Treatment: *
Alcoholic hepatic steatosis
- Symptoms: Can be asymptomatic or have RUQ pain, hepatomegaly, jaundice. Lab Values: Mallory bodies (cytoskeletal intermediate fillaments). AST>ALT; ratio >1.5. Swollen and necrotic hepatocytes with neutrophilic infilitrates. Fatty change. Pathophysiology: Requires sustained, long-term consumption. Leads to cirrhosis. Treatment: *
Alcoholic hepatitis
- Symptoms: Has manifestations of chronic liver disease (jaundice, hypoalbuminemia). Lab Values: *Micronodular, irregularly shrunken liver with “hobnail” appearance. Sclerosis aroudn central vein (zone III). * Pathophysiology: *Final and irrversible form. * Treatment: *
Alcoholic cirrhosis
- Symptoms: Jaundice, tender hepatomegaly, ascites, polycythemia, and hypoglycemia. May lead to Budd-Chiari syndrome. Lab Values: Elevated alpha-fetoprotein, elevated EPO (polycythemia!). Pathophysiology: *Most common primary malingant tumor of liver in adults. Increased risk with HepB/C, Wilson’s disease, hemochromatosis, alpha1-antitrypsin deficiency, alcoholic cirrhosis, and carcinogens (alfatoxin from Aspergillus). Hematogenous dissemination. * Treatment: *
Hepatocellular carcinoma/hepatoma
- Symptoms: Common benign liver tumor; age 30-50. Lab Values: Contraindicate biopsy due to risk of hemorrhage. Pathophysiology: ** Treatment: *
Cavernous hemangioma
- Symptoms: Backup of blood into liver due to right-sided heart failure or Budd-Chiari syndrome. Centrilobular congestion and necrosis can result in cardiac cirrhosis. Lab Values: Mottled nutmeg appearance. Pathophysiology: ** Treatment: *
Nutmeg liver
- Symptoms: Hepatosplenomegaly, ascites, adominal pain, and eventual liver failure. May develop varices and have visible abdominal and back veins. Absence of JVD. Lab Values: Centrilobular congestion and necrosis leading to congestive liver disease. “Nutmeg” appearance. Pathophysiology: Occlusion of IVC or hepatic veins. Associated with hypercoagulable state (YOUNG FEMALE ON ORAL CONTRACEPTIVES), polycythemia vera, pregnancy, and hepatocellular carcionma. Treatment: *
Budd-Chiari syndrome
- Symptoms: Hepatic cirrhosis, panacinar emphysema. Lab Values: PAS-positive hepatocytes. Pathophysiology: *PiZZ genotype. Codominant trait on chromosome 14; misfolded gene product protein aggregates in hepatocellular endoplasmic reticulum. * Treatment: *
alpha1-antitrypsin deficiency
- Symptoms: Immature UDP-glucuronyl transferase leads to unconjugated hyperbilirubinemia and jaundce. Extreme cases may have kernicterus. Resolves within 1 week. Lab Values: ** Pathophysiology: ** Treatment: *Phototherapy (converts UCB to water-soluble form).
Physiologic neonatal jaundice
- Symptoms: ** Lab Values: Direct and indirect hyperbilirubinemia; elevated urine bilirubin; normal or decreased urine urobilinogen. Pathophysiology: ** Treatment: *
Hepatocellular jaundice
- Symptoms: ** Lab Values: Direct hyperbilirubinemia; elevated urine bilirubin; decreased urine urobilinogen. Pathophysiology: ** Treatment: *
Obstructive jaundice
- Symptoms: ** Lab Values: Indirect hyperbilirubinemia; acholuria (absent urien bilirubin); increased urine urobilinogen. Pathophysiology: ** Treatment: *
Hemolytic jaundice
- Symptoms: Asymptomatic; no clinical consequences. Jaundice related to physiological stress (fasting, infection). Lab Values: Elevated unconjugated bilirubin without overt hemolysis. Pathophysiology: Decreased UDP-glucuronyl transferase or decreased bilirubin uptake. Treatment: *
Gilbert’s syndrome
- Symptoms: Presents early in life; patients die within a few years. Jaundice, kernicterus (bilirubin deposition in brain). Lab Values: Elevated unconjugated bilirubin. Pathophysiology: *Absent UDP-glucuronyl transferase. * Treatment: *Plasmapheresis and phototherapy.
Crigler-Najjar syndrome type I
- Symptoms: Less severe and responds to phenobarbital which induces liver enzyme synthesis. Lab Values: ** Pathophysiology: ** Treatment: *
Crigler-Najjar syndrome type II
- Symptoms: Benign condition but have jaundice. Lab Values: Conjugated hyperbilirubinenmia. Grossly black liver. Pathophysiology: Due to defective liver excretion of conjugated bilirbuin. Treatment: *
Dubin-Johnson syndrome
- Symptoms: Similar to Dubin-Johnson syndrome but even milder (jaundice). Lab Values: Normal appearing liver. Mild conjugated hyperbilirubinemia. Pathophysiology: Due to defective liver excretion of conjugated bilirbuin. Treatment: *
Rotor’s syndrome
- Symptoms: Copper accumulation especially in cortex (dementia), putamen (parkinsonian sx; dyskinesia and dysarthria, asterixis), hepatic cirrhosis, cornea (Kayser-Fleischer ring), kidney, and joints. Elevated risk of hepatocellular carcinoma. Hemolytic anemia. Lab Values: Low ceruloplasmin levels. Can also dx by slit lamp. Pathophysiology: Autosomal recessive (ATP7B). Inadequate hepatic copper excretion and failure of copper to enter circulation as ceruloplasmin. Treatment: *Penicillamine.
Wilson’s disease
- Symptoms: Micronodular cirrhosis, diabetes mellitus and skin pigmentation (“bronze diabetes”). Results in dilated cardiomyopathy, testicular atrophy, and elevated risk of hepatocellular carcinoma. Lab Values: HLA-A3. Elevated ferritin, elevated serum iron, low TIBC, increased transferrin saturation. Prussian blue stain of hepatocytes. Pathophysiology: Deposition of hemosiderin. If primary due to autosomal recessive defect. Secondary due to chronic transfusion therapy (beta-thalassemia). Treatment: *Repeated phlebotomy, deferoxamine.
Hemochromatosis
- Symptoms: Pruritus, jaundice, dark urine, light (clay-colored) stools, hepatosplenomegaly. Complicated by ascending cholangitis. Lab Values: Elevated conjugated bilirubin, elevated cholesterol, elevated ALP. Pathophysiology: Due to extrahepatic biliary obstruction (gallstone, biliary stricture, chronic pancreatitis, panceatic head carcinoma). Elevated pressure in intrahepatic ducts leads to fibrosis and bile stasis. Treatment: *
Secondary biliary cirrhosis
- Symptoms: Bone pain, pruritus, xanthelasma, jaundice, dark urine, light (clay-colored, acholic) stools, hepatosplenomegaly. More common in women. Lab Values: Elevated conjugated bilirubin, elevated cholesterol, elevated ALP. Elevated serum mitochondrial autoantibodies (IgM). Pathophysiology: Autoimmune reaction leading to lymphocytic infiltrate and granulomas. Associated with CREST, rheumatoid arthritis, celiac disease. Treatment: *
Primary biliary cirrhosis
- Symptoms: Pruritus, jaundice, dark urine, light (clay-colored) stools, hepatosplenomegaly. More common in men. Lab Values: p-ANCA. Elevated conjugated bilirubin, elevated cholesterol, elevated ALP. Hypergammaglobulinemia (IgM). Beaded appearance of bile ducts on ERCP. Pathophysiology: Unknown cause of concentric “onion skin” bile duct fibrosis. Associated with ulcerative colitis. Can lead to secondary biliary cirrhosis. Treatment: *
Primary sclerosing cholangitis
- Symptoms: Obstruction of common bile duct by gallstones causes bile duct contraction (RUQ pain). May present without pain in diabetes. Lab Values: ** Pathophysiology: ** Treatment: *
Biliary colic
- Symptoms: Jaundice, fever, RUQ pain, tea colored urine, clay-colored stools. Murphy’s sign positive - inspiratory arrest on deep palpation due to pain. Most often causes cholecystitis, aslo ascending cholangitis, acute pancreatitis, and bile stasis. Lab Values: 80% radiolucent (some may be opaque due to calcium). Elevated cholesterol, decreased bile salts. Dx with radionuclide scan, ultrasound. Pathophysiology: Risk factors are female, fat, fertile (pregnant) and forty. Associated with obesity, Crohn’s disaease, CF, advanced age, clofibrate/gemfibrozil/cholestyramine, estrogens, multiparity, rapid weight loss, and Native Americans. Treatment: *Cholecystectomy.
Cholesterol cholelithiasis
- Symptoms: Jaundice, fever, RUQ pain, tea colored urine, clay-colored stools. Murphy’s sign positive - inspiratory arrest on deep palpation due to pain. Most often causes cholecystitis, aslo ascending cholangitis, acute pancreatitis, and bile stasis. Lab Values: Radiopaque. Elevated unconjugated bilirubin, decreased bile salts. Black stones = hemolysis; brown stones = infection. Dx with radionuclide scan, ultrasound. Pathophysiology: Seen in patients with chronic hemolysis, alcoholic cirrhosis, advanced age, and biliary infection. Also Ascaris or Clonorchis. Treatment: *Cholecystectomy.
Pigment cholelithiasis
- Symptoms: Right shoulder or tip of the right scapula pain. Lab Values: Elevated ALP if bile duct becomes involved (ascending cholangitis). Lymphocytosis. Pathophysiology: *Due to gallstones; rarely from ischemia or infectious (CMV). * Treatment: *Cholecystectomy.
Acute cholecystitis
- Symptoms: ** Lab Values: Dystrophic calcification; “porcelain gallbladder”. Rokitansky-Aschoff sinuses. Pathophysiology: Wall of gallbladder has become thickened and fibrotic. Predisposed to carcinoma of the gallbladder. Treatment: *
Chronic cholecystitis
- Symptoms: Due to gallstone; fistula between gallbladder and small instestine. Lab Values: Air in biliary tree. Pathophysiology: ** Treatment: *
Ileocecal valve obstruction
- Symptoms: Epigastric abdominal pain radiating to the back, anorexia, nausea. Can lead to DIC, ARDS, hyperglycemia, hypocalcemia (Ca2+ collects in pancreatic calcium soap deposits), pseudocyst formation, hemorrhage, infection, and multiorgan failure. Lab Values: Elevated amylase (rises first) and elevated lipase (higher specificity, 24-48 hrs post injury). Enzymatic fat necrosis. Pathophysiology: Autodigestion of pancreas by trypsin. Caused by gallstones, ethanol, trauma, steroids, mumps, autoimmune disease, scorpion stings**, hypercalcemia/hypertriglyceridemia (>1000), ERCP, sulfa drugs.* Treatment: *Conservative management; NPO.
Acute pancreatitis
- Symptoms: Can lead to pancreatic insufficiency (steatorrhea, ADEK deficiency, diabetes mellitus, and elevated risk of pancreatic adenocarcionma). Pseudocysts. Lab Values: ** Pathophysiology: Strongly associated with alcoholism and smoking. Treatment: *
Chronic pancreatitis
- Symptoms: Presents with abdominal pain raiding to back, weight loss (fat malabsorption/anorexia), migratory thrombophlebitis (Trousseau’s), obstructive jaundice with palpable gallbladder (Courvoisier’s sign). Lab Values: CA 19-9 tumor marker; CEA less specific. Elevated ALP and conjugated bilirubin if it arises from head of pancreas. Pathophysiology: Arises from DUCTS of the pancreas (not acini). Very aggressive (6 month prognosis); metastasized by presentation. Risk factors are smoking (NOT alcohol), chronic pancreatitis (>20 years), >50 years of age, and Jewish/African American males. Body and tail adenocarcionmas have poorer prognosis due to late detection. Treatment: *Whipple procedure
Pancreatic adenocarcinoma
- Symptoms: Pain is so severe the patient can’t sit down. Lab Values: ** Pathophysiology: Seen in pregnant women (tell them to lay on left side so IVC isn’t constricted). Associated with thrombosis. Treatment: *
External hemorrhoid
- Symptoms: Present with bleeding; painless. Lab Values: ** Pathophysiology: Portal hypertension. Treatment: *
Internal hemorrhoid
- Symptoms: Gastric acid hypersecretion (histamine), pruritis, utricaria, diarrhea, nausea, vomiting, cramps, hypotension, tachycardia, bronchospasm. Lab Values: ** Pathophysiology: Abnormal proliferation of mast cells and increased histamine secretion. Treatment: *
Systemic mastocytosis
- Symptoms: *Characterized by macrocephaly, intestinal hamartomatous polyps, and benign skin tumors, typically trichilemmomas, papillomatous papules, and acral keratoses.
- Lab Values: ** Pathophysiology: ** Treatment: *
Cowden syndrome
- Symptoms: Mimics colitis or malignancy. Lab Values: Black pigmentation of colon due to ingestion of laxative pigment by macrophages. Pathophysiology: History of laxative abuse. Treatment: *
Melanosis coli
- Symptoms: Diarrhea, fever, abdominal cramps. Lab Values: Yellow exudative membrane on colon. DIAGNOSED BY C. DIFFICLE TOXIN IN STOOL. Pathophysiology: Most commonly due to clindamycin or ampicillin. Overgrowth of C. difficile Treatment: *Metronidazole, vancomycin.
Pseudomembranous colitis
- Symptoms: Mimics appendicitis Lab Values: ** Pathophysiology: Caused by Yersinia enterolitica or viral infection. Treatment: *
Mesenteric lymphadenitis
- Symptoms: ** Lab Values: Tall cells with hyperchromatic nuclei. Pedunctulated tubule. Pathophysiology: Less likely to cause cancer (5-10%). Treatment: *
Tubular adenoma
- Symptoms: ** Lab Values: Broad based, finger like projections. Sessile villous. Pathophysiology: Has more dysplasia so higher incidence of cancer (50%+). Typically seen in the rectum Treatment: *
Villous adenoma
- Symptoms: Pain, palpable mass, iron deficiency anemia. Occult bleeding (difficult to detect). Lab Values: Presents as fungating polypoid mass in lumen. CEA tumor marker for RECURRANCE (can’t make initial dx). Pathophysiology: ** Treatment: *
Right sided colonic adenocarcinoma
- Symptoms: Pencil thin stools, cycling diarrhea and constipation, bright red rectal bleeding. Lab Values: “Apple core” lesion (stenosis of lumen). CEA tumor marker for RECURRANCE (can’t make initial dx). Pathophysiology: More infiltrative so there is worse prognosis vs right sided tumors. Treatment: *
Left sided colonic adenocarcinoma
- Symptoms: Generally asymptomatic until it metastasizes to the liver. Lab Values: ** Pathophysiology: ** Treatment: *
Carcinoid tumor of the appendix
- Symptoms: ** Lab Values: Necrotic abscess filled with brown pastellike material “anchovy paste”. Pathophysiology: Cuased by Entamoeba histolytica. Spread via fecal-oral route. Treatment: *
Amebic liver abscess
- Symptoms: *Right sided abdominal pain. * Lab Values: Well circumscribed benign liver tumor. Pathophysiology: Associated with oral contraceptive use. Treatment: *
Liver cell adenoma
- Symptoms: ** Lab Values: Multiple lesions of the liver. Pathophysiology: Most common cancer of the liver (GI, melanoma, breast, lung, etc.) Treatment: *
Metastasis to the liver
- Symptoms: ** Lab Values: ** Pathophysiology: Associated with vinyl chloride use. Treatment: *
Hepatic hemangiosarcoma
- Symptoms: ** Lab Values: Elevated conjugated and unconjugated bilirubin. Elevated AST and ALT (ALT>AST). Lobular disarray. Councilman bodies (apoptosis). Pathophysiology: ** Treatment: *
Viral hepatitis
- Symptoms: Hepatocellular carcinoma. Lab Values: Hepadnavirus (enveloped dsDNA). Ground-glass hepatocyte appearance in carrier state. HBsAg (initial infection, chronic state, NOT window period). HBcAg (window period). HBeAg (indicates transmissibility, window period). Pathophysiology: Spread via sex, IV drug abuse. Treatment: *
Hepatitis B
- Symptoms: Anicteric in children; icteric and more severe in adults. Lab Values: Picornavirus (naked ssRNA+). Anti-HAV IgM. Ballooning degeneration (hepatocyte swelling), mononuclear infiltrate, Councilman bodies. Pathophysiology: Spread via fecal-oral route. Treatment: *
Hepatitis A
- Symptoms: Hepatic cirrhosis, hepatocellular carcinoma. Lab Values: Flavivirus (naked +ssRNA). Pathophysiology: Spread by IV drug abuse. Treatment: *
Hepatiis C
- Symptoms: Fulminant hepatitis with hepatits B coinfection. Lab Values: Deltavirus (-ssRNA, circular). Pathophysiology: Spread via fecal-oral route. Treatment: *
Hepatitis D
- Symptoms: 20-25% mortality rate in pregnant females.. Lab Values: Hepevirus (naked +ssRNA). Pathophysiology: Spread via fecal-oral route. Treatment: *
Hepatitis E
- Symptoms: May predispose to gallstones. Lab Values: Yellow speckling of red-tan mucosa “strawberry gallbladder”. Pathophysiology: *Accumulation of cholesterol-laden macrophages in mucosa of gallbladder. * Treatment: *
Cholesterolosis
- Symptoms: Older female with history of gallstones. Lab Values: Enlarged palpable gallbladder. “Porcelain” appearance due to dystrophic calcifications. Pathophysiology: Poor prognosis. Metastasis to liver. Treatment: *
Gallbladder adenocarcinoma
- Symptoms: ** Lab Values: Adenocarcinoma. Pathophysiology: Carcinoma of intrahepatic bile ducts. Caused by Clonorchis sinensis (Chinese liver fluke) or primary sclerosing cholangitis. Treatment: *
Cholangiocarcinoma
- Symptoms: ** Lab Values: Adenocarcinoma. Pathophysiology: Carcinoma of the extrahepatic bile ducts. Treatment: *
Bile duct carcinoma
- Symptoms: ** Lab Values: Adenocarcinoma. Pathophysiology: Carcinoma of the bifurcation of the left and right hepatic bile ducts. Treatment: *
Klatskin tumor
- Symptoms: RUQ pain secondary to ischemia and stasis. Lab Values: ** Pathophysiology: Acute inflammation of the gallbladder in absence of gallstones. Seen in the hopsitalized (trauma, etc.) and severely ill. Treatment: *Antibiotics.
Acute acalculous cholecystitis
- Symptoms: ** Lab Values: Elevated beta-glucuronidase. Pathophysiology: Due to infection (Escherichia coli, Ascaris lumbricoides, Opisthorchis sinensis). Beta-glucuronidase hydrolyzes conjugated bilirubin, increasing the insoluble unconjugated form. Treatment: *
Brown pigment acute cholecystitis
- Symptoms: ** Lab Values: ** Pathophysiology: Due to chronic hemolysis. Treatment: *
Black pigment acute cholecystitis
- Symptoms: Jaundice, dark urine, light-colored stools, hepatomegaly in an infant. Lab Values: Intrahepatic cholestasis, proliferation of bile ducts. Elevated direct bilirubin, ALP, GGT. Pathophysiology: Congenital obstruction of extrahepatic bile ducts. Leads to biliary cirrhosis if untreated. Treatment: *
Biliary atresia
- Symptoms: Rapid decrease in renal function due to hepatic cirrhosis. Lab Values: ** Pathophysiology: ** Treatment: *
Hepatorenal syndrome
- Symptoms: Presents with acute volvulus. Lab Values: Small bowel on right side, cecum in epigastrum. Pathophysiology: ** Treatment: *
Intestinal malrotation
- Symptoms: Associated with cirrhosis and ascites. Fever, chills, abdominal tenderness, general malaise. Lab Values: ** Pathophysiology: Caused by S. pneumonia in children, E. coli in adults. Treatment: *
Spontaneous bacterial peritonitis
