A 35-year-old woman comes to the office due to stiffness of her fingers. The patient also reports that her fingers turn white when she takes food from the freezer. She has had intermittent heartburn and a periodic "sticking sensation" in her chest during meals over the past several months. The patient has no prior medical problems and takes no medications. She does not use tobacco, alcohol, or illicit drugs. Temperature is 37 C (98.6 F), blood pressure is 140/90 mm Hg, and pulse is 80/min. No mucosal lesions or lymphadenopathy is present. The thyroid is normal to palpation and jugular venous pressure is normal. The lungs are clear to auscultation and heart sounds are normal with no murmur. The abdomen is soft and nontender with no hepatosplenomegaly. The digits of both hands appear puffy with loss of skinfolds. No lower extremity edema is present. Laboratory testing is obtained to establish the diagnosis. Which of the following additional studies is currently the most appropriate for this patient?

Question

A 35-year-old woman comes to the office due to stiffness of her fingers.  The patient also reports that her fingers turn white when she takes food from the freezer.  She has had intermittent heartburn and a periodic "sticking sensation" in her chest during meals over the past several months.  The patient has no prior medical problems and takes no medications.  She does not use tobacco, alcohol, or illicit drugs.  Temperature is 37 C (98.6 F), blood pressure is 140/90 mm Hg, and pulse is 80/min.  No mucosal lesions or lymphadenopathy is present.  The thyroid is normal to palpation and jugular venous pressure is normal.  The lungs are clear to auscultation and heart sounds are normal with no murmur.  The abdomen is soft and nontender with no hepatosplenomegaly.  The digits of both hands appear puffy with loss of skinfolds.  No lower extremity edema is present.  Laboratory testing is obtained to establish the diagnosis.  Which of the following additional studies is currently the most appropriate for this patient?

Quizplus · Accepted Answer

Explanation: 11ec2b69_c15c_88da_8f63_5be8b18678f5_MD0005_00 This patient has Raynaud phenomenon (finger stiffness and skin changes due to claudication when exposed to the cold), dysphagia with likely esophageal dysmotility, and thickened, puffy digits (sclerodactyly), a presentation consistent with scleroderma. Scleroderma can present as localized cutaneous disease in which the skin is the only organ involved, or it can present as systemic sclerosis, in which internal organs are involved as well. Systemic sclerosis can manifest as limited cutaneous systemic sclerosis (CREST syndrome, which includes calcinosis cutis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias) or as diffuse cutaneous systemic scleroderma (which includes more diffuse skin involvement as well as involvement of the lungs, kidneys, and gastrointestinal tract). Lung manifestations associated with scleroderma include pulmonary hypertension (more commonly seen with CREST syndrome) and interstitial lung disease (more commonly seen with diffuse cutaneous disease). All patients with scleroderma should be screened with pulmonary function testing at diagnosis. In patients with interstitial lung disease, there is a concordant decline in both total lung capacity (TLC) and diffusing capacity for carbon monoxide (DLCO), whereas in patients with pulmonary hypertension, there is a greater drop in DLCO and a relatively preserved TLC. (Choice A) Barium esophagography may be useful in the workup of patients with dysphagia of unknown origin. However, in this patient with Raynaud phenomenon and sclerodactyly, scleroderma is the most likely cause of her heartburn and dysphagia. Barium esophagography is neither required for the diagnosis nor part of the initial evaluation of scleroderma, has low sensitivity for the condition, and would not change patient management. (Choice B) Hydrogen breath testing is used for the diagnosis of small intestinal bacterial overgrowth, which is associated with scleroderma but usually causes bloating, abdominal discomfort, or diarrhea. (Choice C) Pulmonary artery catheterization is an invasive technique for directly measuring pressures within the pulmonary artery as well as left ventricular function. Pulmonary function testing and transthoracic echocardiography are noninvasive techniques that can evaluate for pulmonary hypertension and are typically first line for diagnosis. (Choice E) Renal involvement in systemic sclerosis may be seen as a progressive decline in renal function from collagen deposition in the bilateral renal arteries or as acute renal failure due to scleroderma renal crisis. However, renal artery Doppler ultrasonography is not indicated in the workup of these conditions. Educational objective: Patients with systemic sclerosis are at risk for lung involvement, including pulmonary hypertension or interstitial lung disease. Pulmonary function testing should be performed at the time of diagnosis as it helps to establish a pulmonary diagnosis, guide further workup, and track disease progression.

A 35-Year-Old Woman Comes to the Office Due to Stiffness