What is Idiopathic Pulmonary Arterial Hypertension?

Ha!  I just realised that after all this time, I still haven’t written about what Idiopathic Pulmonary Arterial Hypertension actually is!  *Face palm*

Pulmonary Arterial Hypertension is a rare disease where the blood pressure in the lungs is higher than normal.  PAH happens when the blood vessels tighten, and over time this causes fibrosis (scars) of the vessel and higher pulmonary blood pressure.  The Right Atrium and Right Ventricle chambers of the heart have difficulty pumping blood out to the pulmonary artery and through the lungs.  There is a large amount of strain on the heart to overcome this high pressure and the constriction causes the heart to become enlarged and weakened.  Eventually, the heart can no longer keep up with the demands placed on it by the body and can result in heart failure.

Image of PH Hearts from Nationwide Children's Hospital

Idiopathic (or Primary) Pulmonary Arterial Hypertension  is when pulmonary hypertension occurs without a known cause and is not the result of another medical condition.  IPAH is extremely rare, occurring in approximately 2 – 10 people per million per year and although it affects men, women and children it is most common in women between the ages of 20 – 45 years of age.  When Julian was diagnosed it was not believed to be a family or hereditary link, however this belief has changed over the years, and it is possible that there may be this link.

IPAH symptoms are rather common, and can be mistaken for Asthma, or in cases like Julian and a friend of his, Epilepsy.  Symptoms include:

• Breathlessness, especially on exertion
• Tiredness/Dizziness during physical exertion
• Swollen ankle and legs
• Fainting
• Chest pain during physical activity
• Blue tint to the skin (cyanosis)
• Recurrent nausea
• Exercise intolerance
• Poor growth in children
• Recurrent respiratory infections

It can be diagnosed through a variety of tests (although not all)  – Echocardiography, Six Minute Walk Test, Blood tests, Sleep Studies, Lung scans & function studies, and Right Heart Catheterisation (this is a definitive test to prove the diagnosis and confirm pressures).

IPAH has a poor prognosis and must be investigated.  The outcomes from treatments are largely dependent on the cause of the disease and how quickly the diagnosis is made.   When Julian was diagnosed, we were told that the mortality rate for children was between 2 – 5 years (9 years ago now!).   

Whilst prognosis is still poor for anyone diagnosed with IPAH (adults and children alike), living with IPAH has become easier over the years thanks to improvements in treatments and procedures.