L9. Bombonati All Lectures: Diseases High Yield

What is a sliding hiatal hernia?

A hiatal hernia where the GE junction slides above the diaphragm; most common type and strongly associated with GERD.

What is a paraesophageal hiatal hernia?

A hiatal hernia where part of the stomach herniates beside the esophagus while the GE junction usually stays in place; main danger is strangulation/ischemia.

How do you differentiate sliding vs paraesophageal hiatal hernia?

Sliding = GE junction moves upward and causes reflux; paraesophageal = stomach herniates beside esophagus with risk of strangulation.

What is GERD?

Reflux of gastric contents into the esophagus, usually from LES dysfunction; causes heartburn and regurgitation.

What is reflux esophagitis?

Inflammatory injury to the esophageal mucosa caused by GERD.

What are high-yield histologic findings of reflux esophagitis?

Basal cell hyperplasia, elongation of lamina propria papillae, and inflammatory cells including eosinophils/neutrophils.

What is Barrett's esophagus?

Intestinal metaplasia of the distal esophagus due to chronic GERD.

What is the key histologic buzzword for Barrett's esophagus?

Goblet cells in the distal esophagus.

What gross endoscopic phrase is associated with Barrett's esophagus?

Salmon-colored mucosa in the distal esophagus.

What cancer risk is increased in Barrett's esophagus?

Esophageal adenocarcinoma.

What is Candida esophagitis associated with?

Immunocompromise, HIV/AIDS, steroids, chemotherapy, antibiotics; causes dysphagia/odynophagia.

What is the gross appearance of Candida esophagitis?

White adherent plaques or pseudomembranes.

What is the histology buzzword for Candida?

Budding yeast and pseudohyphae.

What is the classic gross appearance of herpetic esophagitis?

Punched-out ulcers.

What are the histologic buzzwords for herpetic esophagitis?

Multinucleated giant cells, Cowdry type A inclusions, and chromatin margination.

Where should biopsy be taken for HSV esophagitis?

Ulcer edge, because HSV infects squamous epithelial cells at the edge.

How do you differentiate Candida vs HSV esophagitis?

Candida = white plaques with pseudohyphae; HSV = punched-out ulcers with multinucleated giant cells.

What is an esophageal papilloma?

A benign exophytic papillary squamous lesion, sometimes associated with HPV or chronic irritation.

What are high-yield features of oral squamous cell carcinoma?

Nonhealing indurated ulcer, tobacco/alcohol risk, possible HPV association, invasive atypical squamous cells, keratin pearls, cervical lymph node metastasis.

What is leukoplakia?

A white plaque that cannot be scraped off; potentially premalignant.

What is erythroplakia?

A red patch with higher risk of dysplasia/carcinoma than leukoplakia.

What is chronic gastritis most commonly caused by?

H. pylori infection.

What are high-yield features of H. pylori chronic gastritis?

Antrum-predominant gastritis, curved/spiral urease-positive bacteria, chronic inflammation, risk of peptic ulcer disease, gastric adenocarcinoma, and MALT lymphoma.

What is peptic ulcer disease?

Acid-pepsin injury causing mucosal ulceration, most often due to H. pylori or NSAIDs.

What are common complications of peptic ulcer disease?

Bleeding, perforation, obstruction, and severe epigastric pain.

How do duodenal and gastric ulcers classically differ with meals?

Duodenal ulcer pain improves with meals; gastric ulcer pain worsens with meals.

Which peptic ulcer type must be biopsied to rule out malignancy?

Gastric ulcer.

What is autoimmune gastritis?

Autoimmune destruction of parietal cells and intrinsic factor, classically affecting body/fundus.

What antibodies are associated with autoimmune gastritis?

Anti-parietal cell antibodies and anti-intrinsic factor antibodies.

What does autoimmune gastritis cause?

Decreased acid, increased gastrin, decreased intrinsic factor, vitamin B12 deficiency, and pernicious anemia.

What oral/systemic clue can occur from autoimmune gastritis?

B12 deficiency can cause glossitis, megaloblastic anemia, and neurologic symptoms.

What is gastric adenocarcinoma associated with?

H. pylori, chronic gastritis, intestinal metaplasia, autoimmune gastritis, smoking, nitrosamines/smoked foods, and hereditary risk factors.

What are clinical buzzwords for gastric adenocarcinoma?

Weight loss, early satiety, anorexia, epigastric pain, occult bleeding, and iron deficiency anemia.

What are classic metastasis buzzwords for gastric adenocarcinoma?

Virchow node, Sister Mary Joseph nodule, and Krukenberg tumor.

What are signet ring cells and linitis plastica associated with?

Diffuse gastric adenocarcinoma.

What is celiac disease also called?

Celiac sprue or gluten-sensitive enteropathy, GSE.

What triggers celiac disease?

Gluten, especially gliadin, found in wheat, barley, and rye.

What does tissue transglutaminase, tTG, do in celiac disease?

tTG modifies/deamidates gliadin, which triggers the immune response.

What is the best screening test for celiac disease?

Anti-tissue transglutaminase IgA, with total IgA checked to rule out IgA deficiency.

What are the classic histologic findings in celiac disease?

Villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes.

What small bowel region is most affected in celiac disease?

Duodenum and proximal jejunum.

What oral lesion is associated with celiac disease?

Aphthous stomatitis, meaning recurrent painful canker sores.

How do aphthous ulcers differ from herpes lesions?

Aphthous ulcers occur on nonkeratinized mucosa and are noninfectious; herpes usually begins as vesicles and favors keratinized mucosa/lip border.

What is colitis?

Inflammation of the colon; can be infectious, inflammatory, ischemic, drug-related, or radiation-related.

What is pseudomembranous colitis classically caused by?

C. difficile overgrowth after broad-spectrum antibiotics.

What antibiotic exposure is strongly associated with C. difficile colitis?

Broad-spectrum antibiotics, especially clindamycin, cephalosporins, ampicillin/amoxicillin, and fluoroquinolones.

What is the classic symptom pattern of C. difficile colitis?

Watery diarrhea, abdominal cramping, fever, leukocytosis after antibiotics.

What is the gross finding in pseudomembranous colitis?

Yellow-white pseudomembranes or plaques in the colon.

What is the histologic "mushrooming cloud" or "volcano lesion"?

An exudate of neutrophils, fibrin, mucus, necrotic cells, and debris erupting from colonic crypts in pseudomembranous colitis.

What is oral candidiasis?

Candida overgrowth in the mouth, also called thrush.

What are high-yield features of oral candidiasis?

White plaques that scrape off, leaving erythematous or bleeding mucosa; associated with antibiotics, immunosuppression, inhaled steroids, diabetes, and dentures.

How do oral candidiasis and aphthous stomatitis differ?

Candidiasis = white plaques that scrape off; aphthous stomatitis = painful shallow ulcers that do not scrape off.

What are the two major idiopathic inflammatory bowel diseases?

Crohn's disease and ulcerative colitis.

What is the best one-line memory for Crohn's disease?

Crohn's goes mouth to anus, skips around, and cuts deep.

What is the best one-line memory for ulcerative colitis?

UC is continuous, superficial, and colon-only.

What are high-yield features of Crohn's disease?

Any GI location, skip lesions, transmural inflammation, noncaseating granulomas, fissures, fistulas, strictures, cobblestoning, and string sign.

What type of granuloma is associated with Crohn's disease?

Noncaseating granulomas.

Why does Crohn's disease form fistulas?

Because inflammation is transmural and can burrow through the bowel wall.

What is the string sign in Crohn's disease?

Narrowed thickened segment of small intestine, classically terminal ileum, due to fibrosis/stricture.

What oral finding is more common in Crohn's disease?

Cobblestone oral lesions; Crohn's can involve the GI tract from mouth to anus.

What are high-yield features of ulcerative colitis?

Limited to colon, starts in rectum, continuous proximal spread, mucosa/submucosa only, nongranulomatous, pseudopolyps, PSC association, and higher colorectal cancer risk.

What layers are involved in ulcerative colitis?

Mucosa and submucosa.

What is the distribution pattern of ulcerative colitis?

Continuous disease beginning in the rectum and extending proximally.

What are pseudopolyps in ulcerative colitis?

Islands of regenerating mucosa left behind after repeated ulceration and healing.

What hepatobiliary disease is strongly associated with ulcerative colitis?

Primary sclerosing cholangitis.

When is colectomy considered in ulcerative colitis?

With dysplasia or severe/extensive disease because of increased colorectal cancer risk.

What factors increase colorectal cancer risk in ulcerative colitis?

Duration of disease, amount of colonic involvement, severity of inflammation, and dysplasia.

Which has more classic neoplasia risk, Crohn's or ulcerative colitis?

Ulcerative colitis, especially with extensive long-standing colitis.

What extraintestinal manifestations are associated with IBD?

Polyarthritis, ankylosing spondylitis, primary sclerosing cholangitis, uveitis/episcleritis, erythema nodosum, pyoderma gangrenosum, and oral ulcers.

Why are small bowel tumors rare despite the small bowel being the longest GI segment?

Rapid transit, liquid contents, lower bacterial load, diluted carcinogens, strong immune surveillance, and less chronic irritation.

What is a hamartomatous polyp?

A benign disorganized overgrowth of tissues normally found at that site.

What is Peutz-Jeghers syndrome?

Autosomal dominant STK11/LKB1 mutation causing mucocutaneous melanin pigmentation and hamartomatous intestinal polyposis.

What are the classic mucosal findings in Peutz-Jeghers syndrome?

Black/brown spots on lips and inside buccal mucosa.

Where do Peutz-Jeghers polyps most commonly occur?

Small bowel, especially jejunum and ileum, but they can occur anywhere in the GI tract.

What is the histologic buzzword for Peutz-Jeghers polyps?

Arborizing network of smooth muscle extending into the polyp and surrounding glands.

Are Peutz-Jeghers polyps malignant per se?

Usually no; the hamartomatous polyps themselves are generally benign.

Why is Peutz-Jeghers syndrome clinically important if the polyps are usually benign?

Patients have moderate to high lifetime cumulative cancer risk, reported up to 93%, so they need endoscopic surveillance and screening for other cancers.

What complications can Peutz-Jeghers polyps cause?

Intussusception, obstruction, bleeding, anemia, and abdominal pain.

What defines a large bowel adenoma?

A benign neoplastic polyp with dysplasia by definition.

What are the three main types of colorectal adenomas?

Tubular, villous, and tubulovillous.

What does low-grade dysplasia in an adenoma look like?

Hyperchromatic cigar-shaped nuclei arranged in a regular tall "picket fence" distribution.

What features increase carcinoma risk in an adenoma?

Polyp size, histologic architecture, and severity of dysplasia.

What is the most important risk factor for carcinoma in an adenoma?

Polyp size.

Which adenoma architecture has the highest malignant potential?

Villous architecture; "villous is villainous."

When does an adenoma become invasive carcinoma?

When dysplastic epithelium invades through the muscularis mucosae into the submucosa; invasion of the submucosal stalk is invasive carcinoma.

What is familial adenomatous polyposis, FAP?

Autosomal dominant APC mutation causing numerous adenomatous polyps, usually more than 100, with inevitable colorectal cancer if untreated.

What gene is mutated in FAP?

APC gene.

What type of polyps are common in FAP?

Multiple tubular adenomas.

What is the leading cause of death in FAP?

Colorectal carcinoma.

Why is prophylactic colectomy done in FAP?

Because adenomatous polyps almost invariably result in colorectal cancer if untreated.

What is Gardner syndrome?

A variant of FAP due to APC mutation with prominent extraintestinal manifestations.

How is Gardner syndrome related to FAP?

Both involve APC mutations; Gardner syndrome is essentially FAP plus extraintestinal findings.

What are high-yield extraintestinal findings in Gardner syndrome?

Osteomas, desmoid tumors/fibromatosis, CHRPE, fibromas, lipomas, epidermal inclusion cysts, and supernumerary teeth.

What dental findings suggest Gardner syndrome?

Supernumerary teeth, impacted teeth, odontomas, and jaw/skull osteomas.

What is CHRPE associated with in this context?

Congenital hypertrophy of the retinal pigment epithelium, seen in APC-related polyposis syndromes such as Gardner/FAP.

What is cholelithiasis?

Gallstones.

What are major risk factors for cholelithiasis?

Advancing age, obesity, OCP/estrogen exposure, chronic hemolytic syndromes, cystic fibrosis/pancreatic disease, and infection.

What percentage of patients older than 80 may have gallstones according to the slide emphasis?

Approximately 30%.

What causes cholesterol stones?

Hepatic hypersecretion of cholesterol, impaired gallbladder motility, and rapid phase transition/crystallization of cholesterol.

What are cholesterol stones associated with?

Obesity, estrogen/OCPs, pregnancy, age, female sex, and supersaturated cholesterol bile.