Diagnostic Error in Patients With Pulmonary Symptoms: More Challenging Cases

Alan Fein, MD; Joaquin E. Morante, MD; Aashir M. Shah, MBBS


December 19, 2017

Breathless With Exertion

A 50-year-old obese (body mass index, 35 kg/m2) woman with a history of gastroesophageal reflux disease is evaluated for increased breathlessness while performing her usual daily activities. She says it feels like her lower legs are "retaining water" but attributed this to being on her feet throughout the day while working as a cashier. She can no longer walk as far as she could 10 months ago and has some chest discomfort with exertion. She has never used tobacco products. Eight months ago, she saw her primary care provider, who told her that her dyspnea was most likely caused by iron deficiency anemia and deconditioning, because her chest x-ray was normal.

On a follow-up visit, the patient reported persistent dyspnea on exertion.

What was the diagnostic error?

Pulmonary Hypertension

Transthoracic echocardiography (TTE) showed normal left ventricular function and an elevated pulmonary mean arterial pressure of 65 mm Hg. The right ventricle was dilated, suggesting pulmonary hypertension (Figure 3).

Figure 3. Integrated two-dimensional and Doppler echocardiographic assessment of a patient with pulmonary hypertension. LA = left atrium; LV = left ventricle; RV = right ventricle. From Roberts JF, et al.[3]

Pulmonary hypertension is defined as an elevated mean pulmonary arterial pressure ≥ 25 mm Hg at rest, as assessed by right heart catheterization. Pulmonary hypertension can be idiopathic or nonidiopathic, and caused by left ventricular heart failure, lung disease, rheumatologic disease, or chronic thromboembolic phenomenon, as well as having multifactorial etiology. Signs and symptoms of pulmonary hypertension are often nonspecific and are related to early right ventricular dysfunction. Symptoms include dyspnea with exertion, fatigue, anorexia, abdominal pain, and chest pain. Hepatic congestion, jugular venous distention, lower-extremity edema, cough, and hemoptysis can also be seen.

In this case, preserved left ventricular systolic function and an elevated mean pulmonary arterial pressure on TTE require further investigation. Initial workup of pulmonary hypertension includes chest radiography, ECG, TTE, and a complete pulmonary function test (PFT). A ventilation/perfusion scan aids in confirmation of chronic thromboembolic hypertension. PFTs may be normal or demonstrate only reduced diffusing capacity. HIV serology; liver function tests to screen for portopulmonary hypertension; and tests for collagen vascular disease, including antinuclear antibody testing, anti-Scl 70 antibody, and rheumatoid factor, should be done. Also, polysomnography should be performed if sleep apnea is suspected. Right heart catheterization is essential to confirm the diagnosis and objectively establish severity.

On further evaluation of this patient, she was found to have thickening of skin over the hands and reported experiencing Raynaud phenomena in the past. Serology testing revealed positive anticentromere antibodies, anti–U1-ribonucleoprotein antibodies, and negative anti-Scl 70 antibodies, consistent with the diagnosis of limited systemic sclerosis-related pulmonary arterial hypertension. Right heart catheterization revealed a mean pulmonary arterial pressure of 45 mm Hg.


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