Identifying Connective Tissue Disease–Associated PAH

Focusing on CTD-PAH, key opinion leaders discuss how the disease can be identified and relevant impact on quality of life.


Charles D. Burger, MD: When examining patients in the subpopulation of PAH [pulmonary artery hypertension] with connective tissue disease [CTD], if you’re a pulmonary hypertension specialist, you’re seeing the patient who’s already had some screening or a suggestion that they have pulmonary hypertension. You’re more in what I refer to as diagnostic mode, where you’re confirming the diagnosis, performing risk assessment, and making decisions around the best treatment. But many patients with connective tissue disease don’t have pulmonary arterial hypertension. The question always is, are there certain factors about the connective tissue disease that a physician or a provider might be aware of, such that they have a higher level of sensitivity to the possibility that this case requires further evaluation or a higher level of attention to that possibility?

Scleroderma is the connective tissue disease that we know the most about. There have been a fair number of good studies that have been completed and published in the United States. Elsewhere in the world, there’s an Australian screening trial that provided us information. There’s a trial in Europe, as well. All of these studies have a good sensitivity for picking up risk for pulmonary artery hypertension. The risk factors for scleroderma that a physician—in this case, perhaps a general practitioner or rheumatologist—might be attentive of that would have them refer the patient for additional evaluation or even order some of the initial evaluation themselves include the presence of changes in skin color and vascular tone in the hands, Raynaud phenomenon, of several years’ duration; typically, over 10 years.

Telangiectasias are small red areas on the skin, typically on the face, lips, or front of the chest. If there are a lot of telangiectasias or they’ve been increasing in number of size, you certainly worry about the possibility of developing pulmonary artery hypertension. There are certain blood markers that seem to be associated with PAH. One is anticentromere antibody. There is a marker that can be an early detector of strain on the heart called brain natriuretic peptide [BNP], and there are a couple of tests for it: straightforward BNP or NT-proBNP [N-terminal pro b-type natriuretic peptide]. Those are readily available in most laboratories, and if they’re elevated, you worry about it being a sign of stress on the heart.

Ultimately, if there’s concern that the patient has symptoms of shortness of breath or pulmonary hypertension, you would move very readily to an echocardiogram to see if there’s any evidence of elevated pulmonary pressures, right heart enlargement, or right heart hypokinesis, where it isn’t contracting as well as it should be. For patients who have portopulmonary hypertension, it’s a little bit more difficult because they can have 3 different causes of elevated pulmonary pressures.

Because the liver doesn’t work well, they’re prone to retaining fluid in their body, and that may show up in their abdomen in the form of ascites or in their legs in the form of edema. That can elevate the pulmonary pressures, but the pulmonary blood vessels are OK. The second thing that can happen in liver disease is that the heart can increase its forward blood flow, or cardiac output. If that cardiac output is increased, it congests the lung and can raise pulmonary pressures. But that’s not pulmonary arterial hypertension. You really have to move forward with a right heart catheterization to determine what exactly the cause of elevated pulmonary pressures is that you might see on a screening echocardiogram and tease it out. If it is portopulmonary hypertension, obviously you would want to treat it.

Certainly, any patient who’s being considered for liver transplantation should have an echocardiogram, and if there’s evidence of pulmonary hypertension, this additional testing with the right heart catheterization will further characterize the cause and determine whether any treatment should be instituted.

Hilary M. DuBrock, MD: Connective tissue disease—associated pulmonary artery hypertension is associated with worse quality of life in patient-reported outcomes, as well as worse survival. Patients have worse quality of life among multiple domains. In addition to worse symptoms related to pulmonary hypertension and the impact that that has on quality of life, patients also experience the physical impact, the cognitive and emotional impact, and the psychological impact of pulmonary arterial hypertension. In addition to that, there’s the financial impact, which can be related to the cost of medications, the cost of medical care, or the cost of unemployment and loss of work related to a diagnosis of pulmonary arterial hypertension.

In terms of comorbidities that are associated with an increased risk and worse survival in patients with connective tissue disease—associated pulmonary arterial hypertension, the main comorbidities are cardiopulmonary conditions. In CTD-PAH, this includes both interstitial lung disease and heart failure with preserved ejection fraction, both of which are relatively common in this group of patients. This can affect treatment response, overall survival, and prognosis in patients with connective tissue disease–associated pulmonary arterial hypertension.

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