ESOPHAGEAL

DISORDERS
Jaba Zarkua
What is your opinion?
A 39-year-old woman has experienced substernal burning pain following meals for
the past 15 years. On physical examination there are no abnormal findings. Upper
GI endoscopy is performed and there are 1 to 3 cm long tongues of erythematous
mucosa extending from the gastroesophageal junction at the Z line upward into
the lower esophagus. Biopsies are performed of this region and microscopic
examination shows areas of gastric cardiac-type mucosa and intestinalized
mucosa. Which of the following is the most likely explanation for this woman's
findings?
Congenital anomaly.
Adenocarcinoma.
Gastroesophageal reflux.
Diverticulum formation.
Iron deficiency anemia.
Signs and symptoms of esophageal
disease
1. Heartburn
MC cause gastroesophageal reflux disease (GERD).

2. Dysphagia (difficulty swallowing) for solids alone

Symptom of an obstructive lesion. E.g. esophageal cancer, esophageal web, stricture.

3. Dysphagia for solids and liquids

Symptom of a motility disorder.
Upper esophageal dysphagia (striated muscle dysmotility); e.g. dermatomyositis,
myasthenia gravis, stroke.
Lower esophageal dysphagia (Smooth muscle dysmotility); e.g. systemic sclerosis,
CREST syndrome, achalasia.
Tracheoesophageal (TE) fistula
1. Epidemiology
MC congenital anomaly of esophagus.
Characteristics - Proximal esophagus ends blindly; distal esophagus arises
from the trachea.
Risks - Advanced maternal age, smoking, and obesity.
2. Pathogenesis unknown.
3. Clinical findings
Maternal polyhydramnios (swallowed amniotic fluid cannot be reabsorbed
in the small intestine).
Abdominal distention in newborn (air in the stomach from tracheal fistula).
Frothing and bubbling around the mouth at birth.
Difficulty with feeding (regurgitation, chemical pneumonia).
VATER syndrome (vertebral abnormalities, anorectal, TE fistula, renal
disease).
VACTERL syndrome (VATER+ cardiac and limb abnormalitys).
Plummer-Vinson syndrome
1. Cause - chronic iron deficiency.
2. Morphology - leukoplakia in oral mucosa and esophagus.
3. Clinic - Intermittent dysphagia for solids (due to an esophageal web or stricture).
Esophageal diverticulum
1. Types
True (outpouching lined by mucosa, submucosa, muscularis propria, and adventitia).
False (weakness in underlying muscle wall outpouching of mucosa and submucosa
into area of weakness).

2. Zenker diverticulum
False diverticulum (in upper esophagus; area of weakness is the cricopharyngeus
muscle).
Clinical findings (Painful swallowing, halithosis, regurgitate food through the mouth,
diverticulitis possible).
Treatment is surgery.
Hiatal hernia
1. Epidemiology (W>M; in >50% of population > 50 years; associated with sigmoid
diverticulosis, esophagitis, duodenal ulcers and gallstones).
2. Sliding hernia (99%)
Definition - Herniation of proximal stomach into thoracic cavity through the diaphragmatic
esophageal hiatus.
Clinical findings heartburn, nocturnal epigastric distress from acid reflux, hematemesis,
ulceration, stricture, bowel sounds heard over left lung base.
Treatment nonpharmacologic (reduce intake of foods/drugs that decrease lower esophageal
sphincter tone; avoid eating large quantities of food; sleep with head of the bed elevated);
pharmacologic (H2 antagonists, PPI, prokinetic agents); surgery if indicated.
3. Paraesophageal (rolling) hernia (1%)
Gastroesophageal junction remains at the level of the diaphragm and part of the stomach
bulges into the thoracic cavity.
4. Pleuroperitoneal diaphragmatic hernia (Bochdalek hernia)
MC (90%) hernias in newborns.
The visceral contents extend through the posterolateral part of the diaphragm on the left into
the chest cavity causing severe respiratory distress at birth. Loops of bowel are present in the
left pleural cavity on a radiograph.
Gastroesophageal reflux disease (GERD)
1. Epidemiology
Hiatal hernia is present in 70% of cases.
2. Pathogenesis
Schematically, the esophagus, lower esophageal sphincter (LES),
and stomach can be envisioned as a simple plumbing circuit.The
esophagus functions as an antegrade pump, the LES as a valve, and
the stomach as a reservoir. The abnormalities that contribute to
GERD can stem from any component of the system.
Poor esophageal motility decreases clearance of acidic material.
A dysfunctional LES allows reflux of large amounts of gastric juice.
Delayed gastric emptying can increase the volume and pressure in
the reservoir until the valve mechanism is defeated.
3. Clinical findings
Noncardiac chest pain (heartburn, indigestion), nocturnal cough, nocturnal
asthma, acid injury to enamel, early satiety, abdominal fullness, bloating
with belching, barrett esophagus.
4. Diagnostic tests with atypical presentation.
Esophageal pH monitoring for 24 hours (sensitivity/specificity 80/90%).
Esophageal endoscopy.
Manometry (LES pressure <10 mm Hg).
5. Treatment.
Nonpharmacologic - reduce intake of foods/drugs that decrease lower
esophageal sphincter tone; avoid eating large quantities of food; sleep with
head of the bed elevated.
Pharmacologic - H2 antagonists, PPI, prokinetic agents.
Surgery if indicated - fundoplication procedure(Involves putting a gastric
wrap around the gastroesophageal junction).
6. Barrett esophagus.
Complication of GERD.
Glandular (intestinal) metaplasia in distal esophagus due to acid injury (gastric type
of columnar cells and small intestine type of cells e.g. goblet cells).
Complications - Ulceration with stricture formation (MC); glandular dysplasia with
increased risk for distal adenocarcinoma.
Diet is the same as for patients with GERD:
Fried or fatty foods
Chocolate
Peppermint
Alcohol
Coffee
Carbonated beverages
Citrus fruits or juices
Tomato sauce
Ketchup
Mustard
Vinegar
Aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs)
What is your opinion?
A 39-year-old woman has experienced substernal burning pain following meals for
the past 15 years. On physical examination there are no abnormal findings. Upper
GI endoscopy is performed and there are 1 to 3 cm long tongues of erythematous
mucosa extending from the gastroesophageal junction at the Z line upward into
the lower esophagus. Biopsies are performed of this region and microscopic
examination shows areas of gastric cardiac-type mucosa and intestinalized
mucosa. Which of the following is the most likely explanation for this woman's
findings?
Congenital anomaly.
Adenocarcinoma.
Gastroesophageal reflux.
Diverticulum formation.
Iron deficiency anemia.
Right answer
Gastroesophageal reflux - There is columnar metaplasia in the lower esophagus
with Barrett esophagus from gastroesophageal reflux disease. A small percentage
of these patients may develop adenocarcinoma. In this case there is no dysplasia
that presages evolution to carcinoma.
What is your opinion?
A 35-year-old HIV positive woman known has had pain on swallowing for the past
week. No abnormal physical examination findings are noted. Upper GI endoscopy
is performed. There are 3 sharply circumscribed 0.3 to 0.8 cm ulcers in the lower
esophagus. She is most likely to have infection with which of the following
organisms?
Helicobacter pylori
Candida albicans
Herpes simplex virus
Cytomegalovirus
Human herpes virus 8
Esophagitis
1. Infectious esophagitis.
Usually a complication of AIDS.
Pathogens (differ in morphologic features) HSV, CMV, Candida, Noncandidal fungi,
VZV, EBV, HPV, poliovirus, Micobacterium tuberculosis, M. avium intracellulare,
Staphylococcus, Streptococcus, Lactobacillus, Nocardia, Trypanosoma cruzi,
Cryptosporidium, Pneumocystis, Leishmania donovani.
Clinical finding - painful swallowing (i.e., odynophagia).

2. Corrosive esophagitis
Causes - ingestion of strong alkali (e.g., lye) or acid (e.g., HCl).
Complications - stricture formation, perforation, SCC.
3. Esophagitis associated with systemic illnesses
Skin disorders, including epidermolysis bullosa, pemphigus vulgaris, bullous
pemphigoid, cicatricial pemphigoid, drug-induced skin disorders; Eosinophilic
esophagitis; Behcet disease; Graft vs host disease; Crohn disease; Sarcoidosis;
Chronic granulomatous disease; Metastatic cancer; Collagen vascular disease;
Motility disorders of the esophagus lead to poor acid clearing, with resulting epithelial
damage (ie, GERD in scleroderma).

4. Esophagitis associated with pharmacologic or other therapy

Medications (eg, pill esophagitis), including alendronate, antibiotics (eg, tetracycline),
potassium, NSAIDs, quinidine, and chemotherapeutic agents (eg, dactinomycin,
bleomycin, cytarabine, daunorubicin, 5-fluorouracil, methotrexate, vincristine).
Radiation esophagitis may occur with radiation treatment of cancers located in the
chest (ie, lung, esophagus, mediastinum).
Sclerosant and band ligation therapy for varices can cause necrosis of the esophageal
tissues and mucosal ulcers; incidence and severity are higher with sclerosant therapy;
later, strictures can develop.
What is your opinion?
A 35-year-old HIV positive woman known has had pain on swallowing for the past
week. No abnormal physical examination findings are noted. Upper GI endoscopy
is performed. There are 3 sharply circumscribed 0.3 to 0.8 cm ulcers in the lower
esophagus. She is most likely to have infection with which of the following
organisms?
Helicobacter pylori
Candida albicans
Herpes simplex virus
Cytomegalovirus
Human herpes virus 8
Right answer
Herpes simplex virus - Herpes esophagitis often has 'punched out' ulcerations. It is seen in
immunocompromised patients, including those with HIV/AIDS. Dysphagia with pain is a
common presentation. Dissemination is unlikely.
Helicobacter pylori - H. pylori is associated with chronic gastritis. Ulcerations associated
with gastric reflux could appear similarly, but would be less likely than herpetic ulcers,
given the setting.
Candida albicans - Candida may be invasive, but produces irregular ulceration of the
mucosa along with exudates.
Cytomegalovirus - Cytomegalovirus can produce ulcerations in immunocompromised
patients, but they are usually small and irregular.
Human herpes virus 8 - HHV-8 is associated with development of Kaposi sarcoma. Kaposi
sarcoma appears as nodular tumor masses.
What is your opinion?
A 41-year-old man has a history of drinking 1 to 2 liters of whisky per day for the
past 20 years. He has had numerous episodes of nausea and vomiting in the past 5
years. He now experiences a bout of prolonged vomiting, followed by massive
hematemesis. On physical examination his vital signs are: T 36.9C, P 110/min, RR
26/min, and BP 80/40 mm Hg lying down. His heart has a regular rate and rhythm
with no murmurs and his lungs are clear to auscultation. There is no abdominal
tenderness or distension and bowel sounds are present. His stool is negative for
occult blood. Which of the following is the most likely diagnosis?
Bleeding from esophageal varices.
Mallory-Weiss syndrome.
Esophageal squamous cell carcinoma.
Barrett esophagus
Esophageal varices
1. Epidemiology and pathogenesis.
Definitiondilated submucosal left gastric veins.
Complication of portal hypertension from cirrhosis (Alcohol abuse is the most
common cause).

2. Clinical findings.
Rupture with massive hematemesis (vomiting blood).
Most common cause of death in cirrhosis.

3. Diagnosis.
Endoscopy.
4. Initial management.
Endoscopy - most important diagnostic procedure and also valuable tool in
treatment of the bleed.
Assess/maintain intravascular volume.
Insert nasogastric tube for gastric aspirate/lavage (confirms upper
gastrointestinal source of bleeding and assesses rate of bleeding).

5. Prevention/treatment of bleeds.
-Blockers and isosorbide - decrease rate of recurrent bleeding; increase
survival by 5% to 10%.
Transjugular intrahepatic portasystemic stent (TIPS) - used for treatment of
both bleeding and intractable ascites.
Octreotide intravenous drip (somatostatin analog) for bleeding.
Endoscopic ligation, endoscopic sclerotherapy, open surgery with stapling.
Mallory-Weiss syndrome
1. Definitionmucosal tear in the proximal stomach and distal esophagus.
2. Pathogenesis - Any disorder that initiates vomiting may result in the
development of a Mallory-Weiss tear, which develops as a linear laceration at
the gastroesophageal junction; These tears have been postulated to occur either
by a rapid increase in intragastric pressure and distention or secondary to a
significant change in transgastric pressure (ie, difference in pressure across the
gastric wall). Aside from those patients who present with upper GI bleeding
secondary to an alcohol binge, Mallory-Weiss tears occur more commonly in
people with hiatal hernias.
3. Clinical finding hematemesis.
Boerhaave syndrome
1. Definition - rupture of the distal esophagus.
2. Causes - endoscopy (~75% of cases), retching, bulimia.
3. Complications.
Pneumomediastinum - air dissects subcutaneously into the anterior mediastinum
and crunching sound (Hamman sign) is heard on auscultation.
Pleural effusion contains food, acid, and amylase.
What is your opinion?
A 41-year-old man has a history of drinking 1 to 2 liters of whisky per day for the
past 20 years. He has had numerous episodes of nausea and vomiting in the past 5
years. He now experiences a bout of prolonged vomiting, followed by massive
hematemesis. On physical examination his vital signs are: T 36.9C, P 110/min, RR
26/min, and BP 80/40 mm Hg lying down. His heart has a regular rate and rhythm
with no murmurs and his lungs are clear to auscultation. There is no abdominal
tenderness or distension and bowel sounds are present. His stool is negative for
occult blood. Which of the following is the most likely diagnosis?
Bleeding from esophageal varices.
Mallory-Weiss syndrome.
Esophageal squamous cell carcinoma.
Barrett esophagus
Right answer
Mallory-Weiss syndrome - The lacerations are induced by the forceful, prolonged
vomiting and can extend to submucosal veins that bleed profusely. Esophageal
variceal bleeding should also be suspected with such a history, because hepatic
cirrhosis is likely to be present. The acute nature of the process means blood has
not yet passed through the bowel to the rectum.
Esophageal squamous cell carcinoma - Ulceration of the mucosa occurs with
carcinoma, but massive bleeding is not common.
Barrett esophagus Barrett mucosa is associated with gastric acid reflux with
inflammation and possible ulceration, but any bleeding is not usually massive.
What is your opinion?
A 58-year-old man has had increasing difficulty swallowing for the past 6 months
and has lost 5 kg. No abnormal physical examination findings are noted. Upper GI
endoscopy reveals a nearly circumferential mass with overlying ulceration in the
mid esophageal region. Biopsy of the mass reveals pink polygonal cells with
marked hyperchromatism and pleomorphism. Which of the following is the most
likely risk factor for development of his disease?
Chronic alcohol abuse.
Iron deficiency.
Helicobacter pylori infection.
Zenker diverticulum.
Achalasia
1. Epidemiology.
Bimodal age distribution (between 20 and 40; after 60).
M=W.
MC neuromuscular disorder of esophagus.
Risk for esophageal cancer.

2. Pathogenesis.
Normal relaxation of the smooth muscle in the LES is due to nitric oxide (NO)
and vasoactive intestinal peptide (VIP).
In achalasia: Loss of myenteric nerve fibers and inhibitory neurons in the
myenteric plexus producing nitric oxide synthase (autoimmune?)NO and
VIPincomplete relaxation of the LESDilation of esophagus proximal to
LES, but peristalsis is absent.
Acquired cause is Chagas disease (Destruction of ganglion cells by
amastigotes).
3. Clinical findings - nocturnal regurgitation of undigested food; dysphagia for
solids and liquids; chest pain and heartburn; frequent hiccups; nocturnal cough
from aspiration; difficulty belching.
4. Diagnosis.
Barium swallow - dilated, aperistaltic esophagus with a beak-like tapering at distal
end.
Esophageal manometry - detects aperistalsis and failure of LES relaxation.

5. Treatment.
Nonpharmacologic - pneumatic dilation; esophagomyotomy.
Pharmacologic (short-term) - long-acting nitrates; calcium channel blockers; botulinum
toxin injection.
Squamous Cell Carcinoma
1. Epidemiology.
MC primary cancer in developing countries.
Blacks > whites; Men > women.
Risks smoking (MC); alcohol abuse; lye strictures; achalasia; Plummer-Vinson
syndrome.
Locations Middle third > lower third > upper third.
Spreads to local nodes first and then to liver and lungs.
2. Clinical findings - Dysphagia for solids initially; weight loss of short duration;
painless enlarged supraclavicular nodes; dry cough and hemoptysis (suggests
tracheal invasion); hoarseness (probable invasion of recurrent laryngeal nerve);
odynophagia; hypercalcemia (parathyroid hormonerelated peptide similar to
SCC in the lungs).
3. Diagnosis.
Esophagogram.
Endoscopy.

4. Treatment.
Surgery, radiation therapy, chemotherapy.

5. Prognosis
Overall 5-year survival rate is 13%.
Other Tumors
1. Leiomyoma.
MC benign tumor of esophagus.

2. Adenocarcinoma of distal esophagus.

MC primary cancer of the esophagus in the United States.
MC predisposing cause - barrett esophagus.
Prevention of GERD decreases risk for developing adenocarcinoma.
What is your opinion?
A 58-year-old man has had increasing difficulty swallowing for the past 6 months
and has lost 5 kg. No abnormal physical examination findings are noted. Upper GI
endoscopy reveals a nearly circumferential mass with overlying ulceration in the
mid esophageal region. Biopsy of the mass reveals pink polygonal cells with
marked hyperchromatism and pleomorphism. Which of the following is the most
likely risk factor for development of his disease?
Chronic alcohol abuse.
Iron deficiency.
Helicobacter pylori infection.
Zenker diverticulum.
Right answer
Chronic alcohol abuse - Chronic alcoholism and tobacco use are two of the most important
risk factors for squamous cell carcinoma of the esophagus in the U.S., specifically related
to squamous cell carcinomas of the mid-esophagus, as in this man. Zinc and molybdenum
are trace elements in the diet whose absence increases the risk for carcinoma of the
esophagus. Food contaminated with Aspergillus also carries a risk, as does food containing
nitrosamines.
Iron deficiency - Iron deficiency anemia may be accompanied in rare instances by
development of an esophageal web (Plummer-Vinson syndrome), and there is a small risk
for esophageal cancer with these webs. Overall, this is an uncommon risk for esophageal
cancer.
Helicobacter pylori infection - H. pylori infection is associated with gastritis and peptic ulcer
disease. The risk for subsequent gastric adenocarcinoma is increased.
Zenker diverticulum - Esophageal diverticula are not risk factors for squamous cell
carcinoma of the esophagus.