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.