Pulmonary Arterial Hypertension Symptoms and Diagnosis

What Are the Symptoms of Pulmonary Arterial Hypertension?

In the early stages of PAH, you may not notice any symptoms at all. As the disease progresses, you will start to experience symptoms common to other lung diseases. The most common symptoms of PAH are:

• Increased shortness of breath, especially with activities like walking up the stairs or exercise
• Fatigue
• Edema, or swelling of the feet, legs and eventually the abdomen and neck
• Dizziness and fainting spells
• Chest pain
• Heart palpitations (racing or pounding)
• Lips and fingers turning blue

How Pulmonary Arterial Hypertension Is Diagnosed

Because symptoms are similar to other common lung diseases, it can often be hard to diagnose PAH. Diagnosis is a process of eliminating other diseases. With the help of lung and heart specialists (pulmonologist and cardiologist) you will need to complete several tests, such as:  

• Blood tests: Your healthcare provider may check for a variety of other diseases when ordering blood tests to rule out any other reason for your symptoms, including HIV, thyroid tests, autoimmune disease panels (test for systemic lupus erythematosus, scleroderma, and rheumatoid arthritis), liver tests and blood chemistry tests.
• BNP Test, also called B-type natriuretic peptide test, is a simple blood test that helps to determine if your heart is working harder than it should which could indicate PAH. Your doctor may order a similar test called NT-proBNP which also checks how your heart is working.
• Electrocardiogram: Shows the electrical activity of the heart and may help detect abnormalities. Doctors may also be able to detect signs of strain on the right side of the heart.
• Lung function tests (breathing tests): Checks for diseases like asthma or COPD.
• 6-Minute Walk Test: Objectively measures how far you can walk and to see if your oxygen levels drop when you are physically active.
• Echocardiogram: Ultrasound of the heart to check the size and condition of the chambers of the heart. It can also be used to estimate the blood pressure in the pulmonary arteries.
• Right Heart Catheterization:  This test is invasive, so it is not usually performed until your provider reviews other tests and determines if you would benefit from this procedure. It involves inserting a catheter (small tube) into a large vein in either the neck, arm, or groin, and threading it through the right side of the heart and into the pulmonary artery. This allows measurement of the blood pressure in the lungs.

Diagnosing Heritable PAH (HPAH)

Diagnosis includes exclusion of other causes, confirmation of a mutation in one of the genes noted to be associated with HPAH, and confirmation of PAH in one or more family members.  

Delayed Diagnosis  

There is often a delay in diagnosing PAH of up to two or more years.  This can be attributed to several factors:

• Initial symptoms are often mild and non-specific
• As the disease progresses it is sometimes misdiagnosed as other conditions such as asthma or congestive heart failure
• Younger patients and patients with a history of a common respiratory disorder frequently have delayed diagnosis

Steps to Take to Decrease Time to Diagnosis  

If you have unresolved heart or lung symptoms with your current treatment plan or your healthcare provider is not sure what is causing your symptoms, you can help by taking these steps.

• Keep a record of your symptoms to share with your healthcare provider including when the symptoms started and if you get relief from the symptoms.
• Give your provider a detailed medical and family history.
• Advocate for yourself. Talk to your provider about what diagnostic tests might be right for you and seeing a specialist.