The Effect of Delayed Diagnosis of PAH and Identifying Patients Earlier

Charles Burger, MD: It appears that when we look at large registries of patients with pulmonary arterial hypertension, that the diagnosis is delayed by about 2 years from the time of first onset of symptoms. There are several challenges that probably contribute to that delay in diagnosis. One of the primary manifestations is shortness of breath. Shortness of breath can be from asthma, it can be from run-of-the-mill heart failure, and it can be from infections. People who are deconditioned can have some shortness of breath. So, the only way really to narrow the time from onset of symptoms to a confirmation of the diagnosis of pulmonary arterial hypertension, is to have some feel for certain signals that would lead you down a direction of considering pulmonary arterial hypertension as a possible diagnosis and then of course to investigating that with medical testing.

We know from these registries that 4 out of 5 patients with group 1 pulmonary arterial hypertension are female. They are often younger than women who would normally develop shortness of breath from coronary artery disease or other causes of heart disease. So, that would really indicate that a young woman with shortness of breath should be one of those in whom the clinician should have a high index of suspicion for pulmonary arterial hypertension, particularly if there isn’t really another obvious explanation. For example, if they’re not smoking, if there’s no family history of heart disease, if their cholesterol is normal, and if they don’t have diabetes. So there’s not really a lot of risk factors for other more common diseases. So consideration for pulmonary arterial hypertension is very reasonable in a young woman with shortness of breath.

Secondly, when the right heart gets overly strained from significant pulmonary hypertension, when the patient exercises, the pressure overload in the right heart creates a situation where the return of the blood flow to the left heart is compromised. When that blood flow to the left heart is compromised, then they’re at high risk for lightheadedness with exertion or even passing out, what we call syncope with exertion. So a young woman with shortness of breath, particularly if they have exertional lightheadedness or exertional syncope really should be in a group of patients in whom consideration of pulmonary arterial hypertension as an explanation for their symptoms would be reasonable. Typically, the next step is an echocardiogram, which is a very useful tool to screen out whether pulmonary arterial hypertension should be considered. So it’s a noninvasive test that can be done in patients in whom the clinician suspects the diagnosis.

There are a number of conditions within this larger category of group 1 pulmonary arterial hypertension that have to be considered in the diagnosis. There’s 2 ways that that happens. One is that there’s a diagnosis of pulmonary arterial hypertension, and then you’re trying to evaluate risk factors. The other way around is also reasonable to consider. There might be a patient, for example, with connective tissue disease, specifically scleroderma in whom we know the risk for pulmonary arterial hypertension might be 10% that if they develop symptoms of shortness of breath or exertional lightheadedness or syncope, pulmonary arterial hypertension should be considered as a potential explanation. It’s not the only one in patients with scleroderma but it’s high on the list. And so the clinician should be aware of that and consideration for echocardiogram in a symptomatic patient with scleroderma is quite reasonable to do to make sure that they don’t need to pursue additional diagnostic testing to investigate the possibility of pulmonary arterial hypertension.

We also know that patients with liver disease, patients that have been exposed to dietary suppressants like fenfluramine, patients with AIDS, and patients with HIV infection are other examples of patients in whom the risk of pulmonary arterial hypertension is elevated. So, again, if they develop symptoms of shortness of breath or lightheadedness or syncope, particularly with exertion, further investigation about the possibility of pulmonary arterial hypertension is warranted. So, if the patient is diagnosed with pulmonary arterial hypertension, then testing should be done for those other conditions to get the diagnosis correct and to prognosticate appropriately. In patients who have those other conditions who then develop symptoms that might suggest the possibility of pulmonary arterial hypertension, you’re now testing for that possibility, typically starting with a screening echocardiogram to look at the right heart size and function and the right heart pressures.