Dr. Zamanian: As PAH is a rare disease, it is important to have a consideration of the diagnosis in any patients with dyspnea of unexplained etiology. However, the most important aspect to early diagnosis of PAH is recognizing the population at risk. Certainly, patients who are idiopathic in etiology will have a presentation at typically a young age, and generally are female. But it's important to recognize that patients with connective tissue diseases, especially scleroderma, patients with congenital heart diseases, and patients who have had exposures to stimulants and diet pills are at exceptional risk for PAH.1
Therefore, the guidelines recommend having a screening echocardiogram performed in patients with shortness of breath, fatigue, or exertional symptoms that are not explained by other disease processes. And typically those patients will have physical findings of right heart failure, including lower extremity edema, a loud pulmonic second heart sound, and a distended jugular vein.1
So recognizing and diagnosing the disease early is crucial, because we believe that the sooner the patients are treated appropriately, the ultimately better outcome in the long term they will have. As this is an uncurable cardiopulmonary disease, it is likely best for patients to have an amount of time to educate themselves on the disease, and the psychosocial impact of the diagnosis will, in my opinion, be better tolerated in these patients.