Rare, Misunderstood and Underdiagnosed: The Hard Truth About Pulmonary Hypertension

Pulmonary hypertension is rare, and according to Panagis Galiatsatos, M.D., M.H.S., assistant professor at Johns Hopkins School of Medicine, community engagement co-director at Baltimore Breathe Center and author of "Medicine for the Greater Good: Achieving the Promise of Medicine Through Community Engagement," that rarity is precisely why it so often goes undiagnosed for far too long.

The challenge begins in the exam room. Physicians are trained to diagnose what they see most frequently, and in areas with poor air quality or high rates of respiratory illness, a patient who comes in short of breath is far more likely to leave with an asthma inhaler than a referral for a right heart catheterization. Galiatsatos is careful not to frame this as a failure of medicine. It is, he says, an appropriate probability bias. A good doctor thinks first about what is most likely. The critical next step is recognizing when a diagnosis is not fitting and being willing to say so.

For younger patients, that recognition often comes when they notice a loss of endurance before the disease progresses to later stages. That early signal matters, and Galiatsatos appreciates that younger people, even those who do not go to the doctor regularly, tend to seek care when something is robbing them of their health and vitality.

The diagnostic workup for pulmonary hypertension is also a barrier in itself. An echocardiogram is typically the first meaningful step, followed by a right heart catheterization for definitive diagnosis. Neither is routinely available at every hospital, particularly in rural areas. Patients who have an astute clinician may still need to travel to an academic medical center to complete the workup, adding another layer of complexity to an already difficult process.

Patient advocacy groups, Galiatsatos argues, can play a meaningful role on two fronts: first, raising general awareness so that people recognize their symptoms and bring them to their doctors; and second, helping the broader public become comfortable around people living with rare diseases, many of whom may have ports, injection sites or visible medical equipment that can carry unintended stigma. For female patients specifically, he also points to the importance of support around fertility, family planning and medication considerations that can feel particularly painful for women whose timelines for starting a family suddenly feel uncertain.

For his own patients, Galiatsatos keeps his threshold for contact intentionally low. Track your breathing. Monitor your pulse oximeter. Watch for ankle swelling and unexpected weight gain. And when something feels off, call. He would rather be inundated with information than have a patient delay reaching out until a manageable situation becomes a medical emergency.