The signs and symptoms of the rare, chronic condition are not consistently detected in the first line of care.
Despite decades of advances in diagnosis, rare pulmonary conditions which present with common symptoms can still elude frontline physicians. Such is the particular case of pulmonary arterial hypertension (PAH), a condition which Rich Channick, MD, and Prof. Sean Gaine said often diagnosed 2 years after it first presents in patients.
In an interview with MD Magazine® while at the American Thoracic Society (ATS) 2019 International Meeting in Dallas, TX, Channick, director of the Acute and Thromboembolic Disease Program at the UCLA Medical Center, and Gaine, director of the National Pulmonary Hypertension Unit in Ireland, explained the difficulties of PAH diagnosis, and what role primary care physicians play in reading symptoms.
MD Mag: Who usually makes the PAH diagnosis?
Gaine: Well that's a very good question. Patients come to specialized centers like Rich’s and our one in Dublin. They come from all different directions, and really what we're most interested in is the primary care market in a sense, and that there are primary care physicians going to see somebody who's complaining of breathlessness.
Initially, your first thought is going to be it’s asthma, it's a bit of heart failure, maybe lack of fitness. But teasing the power of what is really significant breathlessness that may not be from the simple things is going to be really important. This is a disease that is uncommon, so as a primary care physician, you may not see it too often. But there's a great reward for thinking about it, and there’s a great reward in diagnosing it quickly, because you can get some really good outcomes when you do that.
So from the primary care position, a lot of our patients start there. Some go from the primary care physician to a cardiologist, who might do an ECHO or do a catheterization and confirm that they have this disease. Some may go to a pulmonologist and find out through different paths. But the primary care physician is when we really like to talk and say, ‘Hey listen, pulmonary hypertension is uncommon, but if you get it and you think about it, you can really help your patient.’
Channick: Yeah, again I agree completely. I think the opportunity for primary care physicians—the challenge, really—is that these patients sometimes present with nonspecific, mild shortness of breath, fatigue, things that you could chalk up to a much more common thing.
But unless you think about pulmonary hypertension at the primary care level, you may miss it. And that's why studies have shown that there is a two-year delay in diagnosis for many patients on average, between the first symptom and when they get the diagnosis. In 2 years, they'd be critical.
As this study actually shows, the more you delay this diagnosis and delay treatment, the worse the outcome.
Gaine: And that's the thing: the two-year delay doesn't seem to be shortening, even though we got the message out of the program and we have new approaches to treatment. It still seems to be that, from the first symptom to the time of the diagnosis is made, it’s pretty rock-solid that in about 2, two-and-a-half years, throughout the world and in advanced centers.
So it's interesting. You still have a little work to be done.