Pulmonary Hypertension Diagnosis: When Breathlessness Doesn’t Add Up
Daniel, a 43-year-old endurance cyclist, was used to pushing his limits. But when every ride left him gasping for air, and even daily tasks felt exhausting, he knew something was wrong.
Routine tests? Normal. Inhalers? No relief. His symptoms? Only getting worse.
When should persistent breathlessness raise red flags? Could it be something more serious, like Pulmonary Arterial Hypertension (PAH)?
Now, it’s time to solve both sides of the mystery:
- What hidden conditions could be causing breathlessness when standard tests look normal?
- Which overlooked test finally uncovered the real diagnosis?
- How is treatment evolving with new options that go beyond symptom control to target disease progression?
Find out how the right diagnosis and the latest treatments changed Daniel’s future.
Table of Contents
When Breathlessness Doesn’t Add Up: Rethinking the Diagnosis
It Started with a Bike Ride
Daniel had been cycling for years. Weekend rides, long climbs, pushing his limits, he thrived on endurance. But lately, something had changed.
He wasn’t keeping up with his riding group anymore. Climbing hills left him gasping for air. At first, he blamed overtraining. Then, he blamed stress. Then, he simply didn’t have an explanation.
His first instinct? See a doctor.
His doctor’s first instinct? Asthma.
When the First Diagnosis is the Wrong One
A routine workup seemed reassuring:
- Lung function tests? Normal.
- Chest X-ray? Clear.
- Heart rhythm? No abnormalities.
- Blood tests? No signs of anemia or thyroid issues.
“Maybe you’re just out of shape,” the doctor suggested. “Try an inhaler.” But the inhaler didn’t help. Nothing changed.
Weeks passed, then months. He felt worse. Breathless. Tired. Heavy. His legs even started swelling at the end of the day, a detail he barely noticed at first.
He went back to see his physician. “Maybe it’s anxiety?”
Another brush off. But Daniel knew his body, and he knew something wasn’t right.
What Gets Missed in Standard Tests?
Daniel’s experience isn’t unique. Many people with unexplained dyspnea (breathlessness with no clear cause) go through multiple rounds of testing before getting the right diagnosis.
That’s because some of the most serious causes of breathlessness don’t show up on basic tests like spirometry or a chest X-ray.
- Pulmonary Arterial Hypertension (PAH) – A condition where the arteries in the lungs become narrowed, forcing the heart to work harder to pump blood through them.
- Chronic Thromboembolic Pulmonary Hypertension (CTEPH)
- Heart Failure with Preserved Ejection Fraction (HFpEF) – A form of heart failure that often presents with normal heart function on basic tests.
- Interstitial Lung Disease (ILD) – Lung scarring that often doesn’t show up on a standard X-ray but requires a high-resolution CT scan.
- Neuromuscular Disorders – Conditions like myasthenia gravis or ALS can weaken the muscles responsible for breathing, leading to unexplained shortness of breath.
The Test That Changed Everything
After months of frustration, Daniel finally saw a specialist who asked different questions:
- “Do your ankles swell?” (A little, but I never thought it was important.)
- “Do you get dizzy when you walk, run or climb stairs?” (Yes, but I figured that was normal.)
- “Has anyone checked your pulmonary pressures?”
Nobody had.
One echocardiogram later, Daniel finally had an answer: Pulmonary Hypertension. A normal lung Ventilation/Perfusion (V/Q) scan allowed to exclude chronic thromboembolic disease. A right heart catheterization of confirmed the diagnosis of Pulmonary Arterial Hypertension.
The problem had been in his lungs all along—but not in the way his doctors originally assumed.
A New Era in PAH Treatment
Daniel’s diagnosis came with challenges—but also options.
PAH is a serious condition, but treatment has come a long way. Traditional PAH therapies work by relaxing the blood vessels in the lungs, improving blood flow and reducing strain on the heart. These include:
- Endothelin receptor antagonists (ERAs) – Reduce blood vessel constriction.
- Phosphodiesterase-5 inhibitors (PDE-5i) – Help improve circulation.
- Prostacyclin therapies – Increase natural vasodilators in the body.
But now, a new treatment is changing the game: Recently approved in Canada, Sotatercept is the first therapy to target vascular remodeling—the root cause of PAH progression. Unlike other treatments that primarily work by dilating blood vessels in the lungs, it works at the cellular level to help prevent further damage to the pulmonary arteries.
Clinical trials show sotatercept:
- Improves exercise capacity
- Lowers pulmonary artery pressures
- Slows disease progression
For patients like Daniel, this means more than symptom relief—it offers hope for a longer, healthier future.
What We Can Learn from Daniel’s Case
- If breathlessness doesn’t improve with treatment, look deeper. Not all dyspnea is asthma or deconditioning.
- Standard tests don’t catch everything. When spirometry, X-rays, and ECGs are normal, it’s time to consider conditions like PAH, CTEPH, ILD, or neuromuscular disease.
- New treatments are changing outcomes. Early diagnosis gives patients access to cutting-edge personalized therapies, which can slow disease progression rather than just treat symptoms.
When Breathlessness Doesn’t Make Sense, Keep Asking Questions
Daniel’s story isn’t rare. Many people with undiagnosed PAH struggle for months or years before getting answers.
If you or someone you know is experiencing persistent breathlessness despite “normal” tests, it’s time to:
- Ask for an echocardiogram.
- Consider PAH and other less common causes.
- Push for answers—because the right diagnosis changes everything.
Don’t settle for “maybe it’s stress.” When the obvious answers don’t fit, it’s time to look beyond the basics.
Want to Learn More?
For insights on pulmonary hypertension treatments and pulmonary rehabilitation, visit PHA Canada.
This blog was created with input from PH specialists Dr. Steeve Provencher, Dr. Jason Weatherald, and Dr. David Langleben, ensuring the most reliable and up-to-date medical perspectives.
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