Dysphagia case 4

A 35-year-old woman consults a physician because she has been having trouble swallowing. She also often experiences chronic heartburn. The physician performs a screening physical examination, and notices that the skin of her hands appears tight and shiny. On specific
questioning, she reports having often experienced color changes in her hands from white to blue to red.

Q1
Which of the following is the most likely cause of the patient's difficulties with swallowing?
/ A. Achalasia
/ B. Adenocarcinoma
/ C. Chagas disease
/ D. Scleroderma
/ E. Squamous carcinoma

Q2
The color changes described on the patient's hand are most likely due to which of the following?
/ A. Arteriolar spasm
/ B. Blood clots at sites of vascular injury
/ C. Large artery spasm
/ D. Platelet clots
/ E. Stasis blood clots


Q 3
Additional findings on physical examination include noting that the skin changes are limited to areas distal to the elbow and knee, the presence of calcified nodules on the extensor surfaces of the forearms, and the presence of telangiectasias on the forearms. This suggests
that this patient has which of the following?
/ A. Bauer syndrome
/ B. Charcot syndrome
/ C. CREST syndrome
/ D. Crigler-Najjar syndrome
/ E. Dandy-Walker syndrome

Q 4
If this woman's involved skin were biopsied, which of the following would most likely be seen?
/ A. Cleft separating the dermis and subcutaneous tissues
/ B. Epithelial cell hyperplasia
/ C. Marked dermal fibrosis
/ D. Narrowing of the basal lamina of small capillaries
/ E. Thickening of rete pegs


Q 5
More than 90% of the patients with the limited cutaneous form of this disorder make which of the following autoantibodies?
/ A. Anti-centromere
/ B. Anti-DNA topoisomerase l
/ C. Anti-double-stranded DNA
/ D. Anti-Golgi
/ E. Anti-ScI-70

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Dysphagia case 4 answers

A1
The correct answer is D. The tip-off is the reference to the patient's skin changes that are typical for scleroderma, also known as systemic sclerosis. Scleroderma is a disease that may be either predominately limited to the skin or involve many body systems, including the musculoskeletal system, gastrointestinal tract (with esophageal involvement most often symptomatic), cardiorespiratory system, and renal system. Esophageal dysfunction is a common complication of scleroderma. In most patients, the skin changes are obvious, even if the patient has not been previously diagnosed. Rarely, the skin changes may be noticed at an earlier stage, in which the skin of the hands appears puffy and edematous, but not scarred.
Achalasia (choice A) and Chagas disease (choice C) are also important causes of dysphagia, but in achalasia, the physical examination is usually normal, and in Chagas disease, you should be able to elicit a history of possible exposure in Central or South America.
Reflux esophagitis with risk of progression to Barrett esophagus and adenocarcinoma (choice B) can occur in scleroderma, but it is unlikely, at this early stage in the patient's disease, that she already has adenocarcinoma.
The risk of squamous cell carcinoma (choice E) is not increased in this patient.

A2
The correct answer is A. The color changes described are typical for Raynaud's phenomenon, which occurs because of changes in perfusion due to arteriolar spasm. Raynaud's phenomenon is common in scleroderma, largely because the subintimal hyperplasia of small vessels characteristic of scleroderma can reduce the luminal diameter by more than 75%. Some authors argue that the vascular changes seen in scleroderma are actually the insult that triggers the subsequent development of fibrosis.
Blood clots at sites of vascular injury (choice B) are typical in clots that form in arteries on surfaces such as a fractured atherosclerotic clot.
Larger artery spasm (choice C) of vessels damaged by atherosclerosis is thought to contribute to some myocardial infarctions, but is not thought to be an important pathologic mechanism in scleroderma.
Platelet clots (choice D) can be seen in some diseases in which platelet function is abnormal, such as essential thrombocytopenia.
Stasis blood clots (choice E) commonly are found in venous thromboses.

A3
The correct answer is C. These findings, together with esophageal dysfunction and Raynaud's phenomenon (both of which this patient has), are called the CREST syndrome, also known as limited cutaneous scleroderma. This form of scleroderma has a better long-term prognosis than when the skin changes also involve the trunk (diffuse scleroderma) and more internal organs are additionally involved.
Bauer syndrome (choice A) is aortitis and aortic endocarditis as a complication of rheumatoid arthritis.
Charcot syndrome (choice B) is intermittent claudication.
Crigler-Najjar syndrome (choice D) is a severe familial liver disease.
Dandy-Walker syndrome (choice E) is a malformation of the central nervous syndrome.

A4
The correct answer is C. In scleroderma, early changes (at the point at which the hands appear swollen, rather than with tight, thick skin) show edema with perivascular infiltrates of CD4+ T cells. At this stage, the collagen fibers are swollen and beginning to degenerate. The smaller vessels may show basal lamina thickening (not narrowing as in choice D) and endothelial (not epithelial cell hyperplasia) cell damage and proliferation. With time, the characteristic marked dermal fibrosis develops, which tends to both narrow (not thicken as in choice E) the rete pegs and attach the dermis tightly (compare with cleft formation as in choice A) to subcutaneous tissues.

A5
The correct answer is A. All forms of scleroderma are thought to have a strong autoimmune component, and glucocorticoids and azathioprine are used to suppress the inflammatory complications of scleroderma. (Other drugs that can be used in therapy include penicillamine, which inhibits collagen cross-linking, NSAIDS for pain, and ACE inhibitors to protect the kidney if hypertension or renal damage occurs.) The anti-centromere antibody is quite specific for CREST syndrome (96% of cases), and is only seen in a minority of patients with diffuse scleroderma (mainly those with Raynaud's phenomenon) and rarely in systemic lupus erythematosus and mixed connective tissue disease.
Anti-DNA topoisomerase I (choice B), also called anti-Scl-70 (choice E) occurs commonly (64-75%) in diffuse scleroderma, but only rarely in CREST syndrome.
Anti-double-stranded DNA (choice C) is fairly specific for systemic lupus erythematosus, although it only occurs in 50-60% of lupus cases.
Anti-Golgi antibodies (choice D) are seen most often in systemic lupus erythematosus and Sjögren syndrome.

Dysphagia case 3

A 30-year-old man consults a physician because he has been having increasing difficulty swallowing both solids and liquids. Physical examination of the patient is noncontributory. Barium swallow studies show a mostly dilated esophagus with slow passage of barium into the
stomach. The very distal part of the esophagus appears narrowed into a "bird's beak." Esophageal manometry shows incomplete relaxation of the lower esophageal sphincter in response to swallowing, high resting lower esophageal pressure, and absent esophageal peristalsis.

Q 1

The manometry and barium swallow studies most strongly support which of the following diagnoses?
/ A. Achalasia
/ B. Adenocarcinoma
/ C. Barrett esophagus
/ D. Squamous cell carcinoma
/ E. Systemic sclerosis


Q 2
This patient's condition is most likely due to which of the following?
/ A. Acid reflux
/ B. Cancerous destruction
/ C. Candida infection
/ D. Fibrosis of the esophageal wall
/ E. Lack of ganglion cells

Q 3
Which of the following regulators would most likely inhibit the lower esophageal sphincter in normal individuals?
/ A. Acetylcholine and substance P
/ B. Substance P and nitric oxide
/ C. Substance P only
/ D. Vasoactive intestinal polypeptide and acetylcholine
/ E. Vasoactive intestinal polypeptide and nitric oxide


Q4
Which of the following medications is used to directly relax the lower esophageal sphincter?
/ A. Diphenoxylate
/ B. Famotidine
/ C. Granisetron
/ D. Isosorbide dinitrate
/ E. Metoclopramide


Q 5
Worldwide, which of the following parasitic diseases is most likely to produce a disorder that clinically resembles this patient's condition?
/ A. Ascariasis
/ B. African sleeping sickness
/ C. Chagas disease
/ D. Cysticercosis
/ E. Malaria

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Dysphagia case 3 answers

A1
The correct answer is A. The most likely diagnosis is achalasia. This condition is a neurogenic esophageal disorder that can occur at any age, but frequently is diagnosed when individuals are between the ages of 20 and 40. Characteristically, the swallowing difficulties involve both solid food and liquids. The manometry findings illustrated are typical; the barium swallow findings may be as illustrated or may instead show diffuse esophageal dilation without the "bird's beak" near the lower esophageal sphincter.
Larger cancers of the esophagus (choices B and D) would be more likely to cause either a mass or an ulceration, which would be visible on barium swallow.
Very small cancers and Barrett's esophagus (choice C) would require esophagogastroduodenoscopy with biopsy for diagnosis, and would be unlikely to cause dysphagia.
Systemic sclerosis (choice E) can involve the esophagus as well, however, physical examination would usually show obvious skin involvement.

A2
The correct answer is E. Individuals who have achalasia have been found to have a deficiency of inhibitory ganglion cells within the esophageal wall. This lack causes an imbalance in excitatory and inhibitory neurotransmission, with the result that the lower esophageal sphincter tends to have a higher-than-normal muscle tone and relaxes only with difficulty.
Acid reflux (choice A) can cause esophageal irritation, ulceration, and also predisposes for Barrett's metaplasia with subsequent risk of adenocarcinoma of the esophagus.
Cancerous destruction (choice B) would produce a mass, or area of stricture or ulceration.
Candida infection (choice C) of the esophagus resembles thrush of the mouth, and causes a usually superficial infection.
Fibrosis of the esophageal wall (choice D) can be the consequence of ulceration (due to reflux or ingestion of harsh chemicals such as lye) or systemic sclerosis.

A3
The correct answer is E. Physiologically important inhibitors of the lower esophageal sphincter include nitric oxide and vasoactive intestinal polypeptide. Physiologically important substances that stimulate the lower esophageal sphincter include acetylcholine and substance P.

A4
The correct answer is D. Commonly used medications to relax the lower esophageal sphincter in patients with achalasia include nitrates such as isosorbide dinitrate (remember that nitric oxide physiologically inhibits the lower esophageal sphincter) and calcium channel blockers such as nifedipine (which inhibit calcium flow into the smooth muscle of the lower esophageal sphincter, thereby inhibiting contraction.) For patients in whom medical therapy fails, other options include paralysis of the lower esophageal sphincter with intrasphincteric injection of botulinum toxin, pneumatic dilatation, and a Heller myotomy (which interrupts the muscles of the lower esophageal sphincter).
Diphenoxylate (choice A) is a opiate antidiarrheal, and would not be useful for achalasia.
Famotidine (choice B) is an H2 antagonist that would be useful in reducing stomach acidity, but would not directly affect lower esophageal pressure. Other drugs in this class include cimetidine, ranitidine, and nizatidine.
Granisetron (choice C) is a 5HT3 antagonist and is used to prevent nausea and vomiting in patients who receive chemotherapy, and after general anesthesia. Other members of this drug class include ondansetron and dolasetron.
Metoclopramide (choice E) stimulates gastric motility in patients with gastroparesis and is also a antiemetic agent.

A5
The correct answer is C. Chagas disease, which is found in South and Central America and is due to infection with Trypanosoma cruzi, can involve the heart, colon, and esophagus. The esophageal involvement clinically closely resembles achalasia.
The adult worms of ascariasis (choice A), or roundworm infection, live principally in the intestine, and can obstruct the intestine or a bile duct; the larvae can migrate to the liver, heart, and lungs.
African sleeping sickness (choice B), caused by Trypanosoma brucei and Trypanosoma gambiense, causes lymphadenopathy, rash, and CNS involvement.
Cysticercosis (choice D), due to the larval form of the pork tapeworm Taenia solium, can involve subcutaneous tissue, muscle, viscera (but not specifically the esophagus), and, most seriously, the CNS.
Malaria (choice E), due to various Plasmodium species, involves the blood, liver, kidney, spleen, and brain, but does not have a specific predilection for the esophagus.