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GI Diseases Flashcards

1
Q

Primary Biliary Cirrhosis

A

Autoimmune destruction of intrahepatic bile ducts causing progressive liver failure

Presents with jaundice, pruritis, and hypercholesterolemia; primarily affects females

Alk phos and bilirubin are elevated; anti-mitochondrial antibody is present

Treatment: Liver transplant

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2
Q

Pleomorphic Adenoma

A

Most common salivary tumor (50%)

Benign, well-differentiated, slow growing tumor of the parotid gland; characterized by mixed cytology (epithelial cells in a chondromyxoid stroma)

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3
Q

Familial Adenomatous Polyposis (FAP)

A

Autosomal dominant mutation of APC gene (Wnt pathway)

Associated with development of pre-malignant polyps in the colon and non-pre-malignant polyps in the stomach; 100% progress to adenocarcinoma of the colon by age 30

Treatment is colectomy

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4
Q

Hereditary Hemochromatosis

A

Autosomal recessive disorder of the HFE gene resulting in unrestricted absorption of iron from the GI tract, which deposits in the liver, pancreas, heart, joints, and skin causing tissue damage and fibrosis.

Presents as cirrhosis, bronze pigmentation of the skin, diabetes, and cardiomyopathy

Pathology shows hemosiderin-laden hepatocytes

Treatment is therapeutic phlebotomy or chelation

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5
Q

Zollinger-Ellison Syndrome (ZES)

A

Hypergastrinemia and hypersecretion of gastric acid caused by gastrinoma; results in presence of peptic ulcers in non-traditional locations (distal duodenum, jejunum), esophagitis, and diarrhea

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6
Q

Ascending cholangitis

A

Bacterial infection of the common bile duct, usually caused by cholestasis in the setting of choledocholithiasis

Presents as Charcot’s triad: RUQ pain, jaundice, fever; can cause sepsis if untreated, presenting as Reynold’s Pentad (Charcot’s triad + confusion + hypotension)

Treated with IV antibiotics and endoscopic stone extraction by ERCP

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7
Q

Autoimmune Gastritis

A

Autoimmune destruction of gastric parietal cells due to presence of autoantibodies against proton pumps and IF

Associated with achlohydria and hypergastrinemia

Histology shows infiltration of lymphocytes and plasma cells into the gastric epithelium and lamina propria

Presents as pernicious anemia

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8
Q

Pernicious Anemia

A

Due to low B12 levels, often due to a problem with intrinsic factor production in the parietal cells of the gastric epithelium

Presents with low hemoglobin, low hematocrit, elevated MCV (>100), peripheral neuropathy

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9
Q

Celiac Sprue

A

Inflammatory disease of the small intestine caused by autoantibodies to gluten and gliadin peptides; associated with HLA-DQ2 and HLA-DQ8 as well as other autoimmune diseases (DM, thyroiditis) and dermatitis herpetiformis

Intestinal biopsy shows increased intraepithelial lymphocytes + villous blunting

Presents with diarrhea, steatorrhea, bloating, weight loss, abdominal pain, iron/folate malabsorption

Anti-tissue transglutaminase (tTg) IgA is elevated

Treatment: Lifelong gluten free diet

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10
Q

Irritable bowel syndrome

A

Functional gastrointestinal disorder characterized by abdominal pain and altered bowel habits in the absence of organic pathology

Presents as alternating diarrhea and constipation and chronic abdominal pain that improves with defecation

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11
Q

Indirect inguinal hernia

A

Passage of the peritoneum through the internal inguinal ring, into the scrotum; passes lateral to the inferior epigastric artery

Caused by failure of the processus vaginalis to close

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12
Q

Cushing’s ulcer

A

Acute stress ulcer associated with elevated intracranial pressure in trauma or severe illness; elevated ICP stimulates the vagus nucleus, causing increased acid secretion in the stomach, resulting in ulcer formation and bleeding

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13
Q

Achalasia

A

Degeneration of inhibitory interneurons in the myenteric plexus of the esophagus which are normally responsible for relaxation of the LES; causes abnormally high LES resting tone

Presents as solid/liquid dysphagia, weight loss, and non-sour regurgitation

Diagnosed by barium swallow or upper endoscopy revealing a dilated esophagus with “birds-beak” appearance; esophageal manometry shows lack of normal peristalsis and impaired post-deglutitive LES relaxation

Treated with dilation, Botox, or surgical myotomy; medications (CCBs, Nitroglycerine) are less effective

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14
Q

Diverticulosis

A

Outpouchings of the colon wall (mucosa and submucosa) through defects in the muscular layer (“false diverticulum”)

Risk factors: low fiber diet, chronic constipation, age

80% are benign/asymptomatic; risk of infection and rupture (acute diverticulitis)

May be asymptomatic or present as episodic painless rectal bleeding

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15
Q

Diverticulitis

A

Rupture of an infected diverticulum; may be uncomplicated, with minimal local abscess formation (treated by antibiotics) or complicated, with large abscess development or bowel obstruction (treated by percutaneous abscess drainage or surgery)

Risk of hemorrhage if mucosa erodes into penetrating vasa recta of the colon wall, presenting as heavy, painless hematochezia

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16
Q

Pseudomembranous Colitis

A

Usually caused by C. diff superinfection in the setting of recent antibiotic use (often 3rd generation Cephalosporins); toxins released cause disruption of epithelial cytoskeleton with tight junction barrier loss

Presets as fever, leukocytosis, abdominal pain, cramps, watery diarrhea

Presence of ‘pseudomembranes’ - an adherent layer of mucopurulent exudates (inflammatory cells + mucinous debris) at the sites of colonic epithelial injury

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17
Q

Barrett’s Esophagus

A

Squamous to columnar metaplasia of the distal esophageal epithelium caused by chronic inflammation in <10% of GERD cases

Carries the largest risk for esophageal adenocarcinoma

Biopsy shows Goblet cells

Treated with PPIs and monitoring for dysplasia

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18
Q

Esophageal Squamous Cell Carcinoma

A

Arises from the stratified squamous epithelium of the esophagus

Risk factors: Tobacco, alcohol, achalasia

Presents as progressive dysphagia and weight loss

Histology shows infiltrative, malignant glands

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19
Q

Esophageal adenocarcinoma

A

Arises from the distal esophagus in the setting of columnar metaplasia (Barrett’s esophagus)

Risk factors: Barrett’s esophagus, GERD, obesity, male gender, age

Presents as progressive dysphagia, weight loss, hematemesis

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20
Q

Gastroesophageal Reflux Disease (GERD)

A

Reflux of gastric contents into the esophagus due to transient and inappropriate LES relaxation

Risk factors: Tobacco, hiatal hernia, obesity

Presents as post-prandial heartburn, regurgitation, hypersalivation

Complications: Erosive esophagitis, Barrett’s esophagus, benign esophageal stricture

Treatment: PPIs, H2 blockers, antacids

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21
Q

Crigler-Najjar Syndrome

A

Congenital unconjugated hyperbilirubinemia caused by mutation in UDP-glucuronyltransferase (UGT1A1) which is responsible for conjugation of bilirubin in the liver

Leads to extremely high levels of unconjugated bilirubin in the serum

Complete lack of enzymatic function (Type I) is fatal without liver transplantation; reduced function of enzyme (Type II) causes jaundice but is otherwise asymptomatic

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22
Q

Gilbert Syndrome

A

Decreased activity of UDP-glucuronyltransferase (UGT1A1) causing mild, benign, fluctuating levels of unconjugated bilirubin

Relatively common; patients experience episodic jaundice, often during periods of physiologic stress

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23
Q

Dubin-Johnson Syndrome

A

Autosomal recessive conjugated hyperbilirubinemia; caused by hereditary defect in the transport of bilirubin glucuronides from hepatocytes into bile

Causes episodic jaundice

24
Q

Pancreatic adenocarcinoma

A

Presents with jaundice, epigastric pain radiating to the back, and weight loss

Risk factors: Smoking, diabetes, chronic pancreatitis

Labs show elevated amylase, lipase, and alkaline phosphatase; tumor markers CA 19-9 and carcinoembryonic antigen (CAE) may be elevated

25
Q

Primary Sclerosing Cholangitis

A

Idiopathic inflammatory disorder of the extra- and intra-hepatic biliary tree causing progressive fibrosis and stricture; leads to liver fibrosis and/or cirrhosis, associated with increased risk of cholangiocarcinoma

Presents as asymptomatic elevation of alkaline phosphatase progressing to fatigue, pruritis, and jaundice; primarily affects Caucasian males with ulcerative colitis

Labs show elevated alkaline phosphatase and bilirubin

Diagnosis is by cholangiography, which shows multiple biliary strictures alternating with areas of dilation (“string of pearl” appearance of bile duct)

Histology shows “onion-skin” fibrosis around bile duct

Treatment: Liver transplant is definitive treatment

Primarily affects Caucasian males 30-60; associated with ulcerative colitis

26
Q

Carcinoid syndrome

A

Caused by metastasis of neuroendocrine cells of the GI tract to the liver; release of 5-HT into systemic circulation causes serotonin syndrome characterized by episodic flushing, diarrhea, wheezing, and right sided valvular heart disease

27
Q

Hereditary Non-Polyposis Colorectal Cancer (HNPCC) / Lynch Syndrome

A

Autosomal dominant disorder associated with increased incidence of early onset colorectal cancer as well as extra-colonic cancer (endometrial, ovarian, urinary tract, small intestinal, gastric, biliary)

Caused by a mutation in DNA mismatch repair machinery leading to microsatellite instability

28
Q

Small Bowel Obstruction

A

Presents with anorexia, vomiting, and abdominal pain; abdomen may be distended and diffusely tender

Upright X-ray shows dilated loops of small intestine with air-fluid levels

Usually caused by adhesion formation secondary to abdominal surgery; also caused by hernias and intraluminal tumors of the small intestine

29
Q

Pompe’s Disease

A

Autosomal recessive glycogen storage disorder caused by deficiency in lysosomal a-1,4-glucosidase necessary for enzymatic degradation of glycogen; glycogen accumulates in the cytoplasm and the lysosomes

Associated with myopathies, especially cardiomyopathy and cardiac failure

30
Q

Whipple’s Disease

A

Infection of the GI tract with gram-positive Tropheryma whippellii; macrophages engulf the organism and accumulate within the lamina propria and lymphatic tissue of the small intestine, causing lymphatic obstruction

Presents as a classic triad of diarrhea, weight loss, and malabsorption +/- arthritis, lymphadenopathy, and neurologic symptoms

Small intestinal biopsy shows villous blunting and infiltration of lamina propria with large macrophages filled with the organism

31
Q

Trousseau syndrome

A

Venous thrombosis arising as a result of the hypercoagulable state associated with various cancers, especially pancreatic adenocarcinoma

Presents as the appearance and disappearance of venous thromboses throughout the body

32
Q

Idiopathic intussusception

A

Characterized by telescoping of a proximal segment of bowel and attached mesentery into a distal segment; leads to lymphatic obstruction, swelling, and decreased perfusion of the affected bowel; unterated, venous and lymphatic congestion can cause intestinal edema, ischemia, perforation, and peritonitis

Presents as intermittent, colicky pain

33
Q

GI manifestations of Scleroderma

A

Connective tissue proliferation with fibrosis of the gut wall, smooth muscle atrophy

Smooth muscle atrophy of the lower 2/3 of the esophagus can cause dysphagia secondary to weak peristalsis, and GERD progressing to esophagitis and/or stricture secondary to weakness of the LES

34
Q

Gastric adenocarcinoma

A

May occur as either gland-forming (intestinal) type or, less commonly, as diffuse type (undifferentiated, associated with signet-ring cells and excess mucin production)

Risk factors: Chronic H. pylori infection, smoked foods, tobacco, male sex

Prognosis: Overall 5-year survival is 10% and related to depth of invasion

Treatment is endoscopic or surgical resection +/- adjuvant chemotherapy

35
Q

Microscopic colitis

A

Chronic, mild, secretory diarrhea usually seen in older women; autoimmune etiology

Endoscopy is normal
Biopsy is diagnostic and shows either thickening of the basement membrane (collagenous colitis) or lymphocytic infiltration of mucosa without basement membrane thickening (lymphocytic colitis)

36
Q

Necrotizing Enterocolitis

A

Occurs as a complication of prematurity; hypoxemia causes ischemic damage to the bowel wall leading to infection with possible perforation and peritonitis

Presents in the first 7-10 days of life as abdominal distension and bloody stools

Treatment: Bowel rest + antibiotics, possible surgical resection of the bowel

37
Q

Perinatal Biliary Atresia

A

Etiology is unknown; characterized by a normal extrahepatic biliary tree at birth followed by progressive destruction

Presents as progressive jaundice and acholic stools 1-6 weeks after birth

Histology shows cholestasis within hepatocytes and bile ducts, reactive bile duct proliferation, variable inflammation and fibrosis

Treatment is hepatoportoenterostomy (Kasai procedure) by which the extrahepatic biliary system is excited and a loop of small bowel is connected to the hepatic hilum allowing for bile drainage

Patients often progress to cirrhosis and require liver cirrhosis

38
Q

Embryonic / Fetal Biliary Atresia

A

Congenital structural anomaly of the biliary tree; usually associated with other congenital abnormalities

Presents as progressive jaundice (conjugated bilirubinemia) immediately after birth

39
Q

Peutz-Jeghers polyps

A

Hamartomatous, pedunculated polyps occurring anywhere along the GI tract; polyps are benign but carry increased risk of pancreatic and breast cancer

Usually affects young adolescents
Associated with extra-GI manifestations, most commonly mucucutaneous pigmented lesions

40
Q

Infantile Pyloric Stenosis

A

Hyperplasia of pyloric muscularis propria causing obstructive of gastric outflow

Presents in 2-3rd week of life with projectile vomiting and presence of firm abdominal mass

Treatemtn: Surgical myotomy of the pyloric muscularis

41
Q

Allergic (eosinophilic) Esophagitis

A

Caused by an immune reaction against dietary antigens

Histology shows significant eosinophilic infiltrate of the epithelium, with variable submucosal fibrosis; these findings may affect the length of the entire esophagus uniformly

pH probe testing is normal; patients do not respond to acid blockade

Treat with elimination of the offending allergen from the diet +/- corticosteroids

42
Q

Reflux esophagitis

A

Caused by inadequate gastroesophageal sphincter function; characterized by abnormal esophageal pH probe testing, usually affecting the distal esophagus

Histology shows mild intraepithelial infiltrate with eosinophils

Responds to acid blockade

43
Q

Wilson’s Disease

A

Autosomal recessive disorder caused by defective synthesis of ceruloplasmin, which normally functions to chaperone copper to the liver for degradation and excretion in the bile; copper accumulates in liver and unbound copper released into circulation accumulates in the brain, kidneys, and corneas

Presents as Parkinsonism (2/2 deposits in the putamen), dementia (2/2 deposits in cortical neurons) and Kayser-Fleischer rings (2/2 deposits in cornea)

Treatment is plasmapheresis and chelation

44
Q

Hemosiderosis

A

i.e. secondary hematochromatosis

Usually occurs following multiple blood transfusions

Presents similarly to hereditary hemochromatosis: cirrhosis + “bronze diabetes”

Liver biopsy shows iron deposits more prevalent in macrophages than in hepatocytes

45
Q

Autoimmune hepatitis

A

Primarily affects females; presents as acute hepatitis flare followed by chronic hepatitis

Characterized by prominent plasma cells on histology with centrilobular necroinflammation

LFTs show increased AST and ALT with normal alkaline phosphatase; serology shows positive auto-antibodies and elevated IgG

Treated with steroids

46
Q

Alpha-1-antitrypsin deficiency

A

Autosomal recessive mutation of alpha-1-antitrypsin protease inhibitor; patients with disease are most often homozygous for the Z allele

Most patients present with pulmonary emphysema; only 10% have liver disease

Histologically, abnormally folded A1A enzyme can be seen as intracytoplasmic accumulations of PAS-positive hyaline globules

47
Q

Hepatocellular carcinoma

A

Most common primary malignant tumor of the liver; occurs almost exclusively in patients with risk factors: chronic alcohol abuse, hepatitis B or C, aflatoxin exposure

48
Q

Cholangiocarcinoma

A

Invasive, gland-forming tumor of the bile ducts; may be intra- or extra-hepatic

Usually presents at an advanced stage with poor prognosis; primary risk factor is primary sclerosing cholangitis

49
Q

Hepatic hemangioma

A

Most common primary hepatic tumor - incidence up to 2%, more common in females

Benign neoplasm of dilated vascular spaces

Presents as vague RUQ pain, early satiety, nausea, vomiting

50
Q

Focal nodular hyperplasia (FNH)

A

Second most common primary hepatic mass; formed by hyperplastic parenchyma, commonly in association with hemangioma

Commonly diagnosed in 30s/40s, usually asymptomatic

51
Q

Hepatocellular adenoma

A

Benign proliferation of hepatocytes appearing grossly as a well-circumscribed mass; mostly occurs in women of child-bearing age, associated with OC use

Mostly asymptomatic but can present with RUQ pain; risk of rupture into abdomen with hemorrhage

52
Q

Acetaminophen-induced liver injury

A

Acetaminophen is a direct hepatotoxin

Causes coagulative necrosis beginning in zone 3 (centrilobular) and progressing to pan-lobular necrosis with high enough doses

53
Q

Gardner’s Syndrome

A

Familial Adenomatous Polyposis (FAP) + Osteomas + Fibromatosis

54
Q

Turcot’s Syndrome

A

Familial Adenomatous Polyposis (FAP) + CNS tumors (medulloblastoma)

55
Q

Reye Syndrome

A

Rare, often fatal hepatoencephalopathy of childhood; associated with treatment of viral illnesses by aspirin

Mechanism: Aspirin metabolites transiently inhibit metabolism of fatty acids by hepatic mitochondria

Findings: Fatty liver, hepatomegaly, hypoglycemia, vomiting, coma

56
Q

Tracheoesophageal fistula

A

85% occur where the upper esophagus ends in a blind pouch and the lower portion of the esophagus empties into the distal trachea

Complications: Polyhydramnios in utero, difficulty swallowing in the infant causing choking, aspiration, and filling of the stomach with air upon breathing

CXR shows large stomach air bubble

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