Pulmonology · Pulmonary Arterial Hypertension

Why Is Pulmonary Arterial Hypertension Often Misdiagnosed?

At a Glance

Pulmonary arterial hypertension is often diagnosed late because early shortness of breath and fatigue resemble common conditions, while routine tests may be normal or inconclusive. Diagnosis requires ruling out other causes and confirming high pressures with right heart catheterization.

Finding out you have pulmonary arterial hypertension (PAH) often comes after a long, frustrating journey of medical appointments and changing diagnoses. If you are wondering why it took so long for your doctors to figure out you have PAH, you are not alone. The primary reason for this delay is that the early symptoms of PAH—such as shortness of breath and fatigue—are non-specific and can resemble the symptoms of much more common conditions ^[1] ^[2]. Because PAH is a rare disease, doctors may initially suspect and test for common illnesses first ^[3]. Studies of different patient groups have reported average diagnostic delays ranging from over a year to three years, often requiring visits to multiple clinicians before reaching a final answer ^[4] ^[5] ^[6].

The Challenge of Early Symptoms

In its early stages, PAH does not have unique, unmistakable signs. The most common presenting symptoms are shortness of breath during physical activity (dyspnea) and unusual fatigue ^[1] ^[2] ^[7]. Because these symptoms are so common, they may be attributed to other causes:

Asthma or respiratory infections: Doctors might prescribe inhalers or antibiotics, exploring common lung issues ^[8].
Anxiety or stress: When routine tests come back normal, breathlessness may be considered a symptom of anxiety ^[7].
Deconditioning or aging: Fatigue and getting winded on stairs are sometimes attributed to being out of shape or getting older ^[2].

These common conditions can also coexist with PAH, making it even harder to recognize when they do not fully explain your symptoms. Some patients report their experiences of these symptoms are dismissed when routine tests look normal.

When to Seek Immediate Help: If you experience severe or rapidly worsening breathlessness, breathlessness at rest, significant chest pain, or if you faint (syncope), seek emergency medical care immediately ^[9] ^[10]. Do not wait for a routine specialist appointment.

The Diagnostic Hurdle

Diagnosing PAH is a complex process. Pulmonary hypertension (PH) is an umbrella term for high blood pressure in the lungs, and PAH is just one specific type (known as Group 1). Confirming PAH requires proving that the high pressure exists and ruling out all other possible causes.

Routine tests are often normal: Initial evaluations like electrocardiograms (ECGs) and chest X-rays might look completely normal or show only subtle changes ^[11].
Echocardiogram limitations: An ultrasound of the heart (echocardiogram) is a key noninvasive test used to estimate the likelihood of pulmonary hypertension ^[1]. However, it cannot directly measure pressures and its estimates can be inaccurate ^[12] ^[13]. It cannot definitively diagnose PAH, and a normal echocardiogram does not completely rule out PAH if symptoms continue.
Ruling out other causes: Before confirming PAH, doctors must look for other reasons for high lung pressure. This usually involves pulmonary function tests to check for lung disease and a ventilation/perfusion (V/Q) scan to rule out chronic blood clots in the lungs ^[14] ^[11] ^[15].
The need for right heart catheterization: To confirm pulmonary hypertension, a doctor must perform a right heart catheterization ^[14]. This procedure directly measures right-sided heart pressures, pulmonary artery pressures, and pulmonary artery wedge pressure ^[16]. These specific measurements help prove the diagnosis and ensure the high pressures are not caused by left-heart disease ^[17] ^[18].

Navigating the Healthcare System

Even when doctors suspect pulmonary hypertension, getting the final diagnosis can be delayed by systemic barriers. Evaluation and treatment planning should ideally involve a specialized pulmonary hypertension center ^[14] ^[10]. However, referrals to these centers are often delayed ^[19].

Patients may wait months to see specialists or face barriers related to travel distance, insurance, and socioeconomic factors ^[20]. Studies show that living farther away from a specialty center or facing mental health and socioeconomic challenges can significantly extend the time it takes to get an accurate diagnosis ^[20] ^[6]. Shared or coordinated care between your local doctor and a specialist center can help when travel or access is a barrier.

Understanding this diagnostic delay can help validate your experience. Now that you have an accurate diagnosis, you and your care team can focus on the right treatments and disease management.

Common questions in this guide

Why is pulmonary arterial hypertension often mistaken for something else?

Early PAH commonly causes shortness of breath with activity and fatigue, which can also occur with asthma, respiratory infections, anxiety, stress, deconditioning, or aging. Because PAH is rare, clinicians may investigate more common conditions first, and more than one condition can be present at the same time.

How long does it usually take to receive a PAH diagnosis?

Reported average diagnostic delays in different patient groups range from more than one year to about three years, and many people see several clinicians before receiving a final diagnosis. The timing for one person can be shorter or longer.

Can normal test results or an echocardiogram rule out PAH?

Not always. An ECG or chest X-ray may be normal or show only subtle changes, and an echocardiogram estimates the likelihood of pulmonary hypertension rather than directly measuring pressure. Persistent symptoms may require further evaluation even when an echocardiogram is normal.

What test confirms pulmonary arterial hypertension?

A right heart catheterization is used to confirm pulmonary hypertension by directly measuring pressures in the right side of the heart and pulmonary arteries. Doctors also use tests such as lung-function testing and a ventilation/perfusion scan to look for lung disease or chronic blood clots and identify the cause.

When should I seek emergency care for possible PAH?

Seek emergency care for severe or rapidly worsening shortness of breath, breathlessness at rest, significant chest pain, or fainting. Do not wait for a routine appointment with a specialist.

How can a pulmonary hypertension center help when diagnosis or care is delayed?

A specialized pulmonary hypertension center can help evaluate the diagnosis and plan care while coordinating with your local clinicians. If travel, insurance, or other barriers make referral difficult, shared care between the center and local team may be an option.

Why Is Pulmonary Arterial Hypertension Often Misdiagnosed?

The Challenge of Early Symptoms

The Diagnostic Hurdle

Navigating the Healthcare System

Common questions in this guide

Appointments are short. Make every minute count.

Related questions

Get notified when new evidence is published on Idiopathic/heritable pulmonary arterial hypertension.

The Challenge of Early Symptoms

The Diagnostic Hurdle

Navigating the Healthcare System

Common questions in this guide

Appointments are short. Make every minute count.

Related questions

Get notified when new evidence is published on Idiopathic/heritable pulmonary arterial hypertension.

References