Pulmonary Arterial Hypertension (PAH) 

Pulmonary arterial hypertension (PAH) is a rare, progressive, life-threatening type of pulmonary hypertension without a cure. PAH is also called WHO PH Group 1. PAH causes narrowing, thickening and stiffness of the arteries that carry blood from the heart to the lungs, resulting in high blood pressure in the lungs and weakness in the right side of the heart.  

Healthy artery

Artery of person with PAH

PAH Causes

PAH can be inherited or caused by another disease. Some people have PAH and it is not clear why. 

Idiopathic (IPAH)—PAH for which no specific cause or risk factor can be identified is referred to as idiopathic PAH
Familial (FPAH)—PAH that tends to run in families and is caused by changes in certain genes is called familial PAH (also known as heritable PAH) 
Associated (APAH)—PAH associated with another disease or condition that a person already has is called associated PAH 

PAH & Serotonin 

Research has shown that serotonin can play a role in the development of PAH. Serotonin is a substance that occurs naturally in your body. It is mainly found in your brain and digestive tract and appears to affect and/or regulate a number of body functions. It is thought that too much serotonin may cause arteries in the lungs to narrow.

Doctors hope the ELEVATE 1 Study medicine, RVT-1201, can reduce the amount of serotonin affecting the lung arteries, which may open the arteries to allow blood to flow more easily. 

PAH Symptoms 

Early symptoms of PAH may include feeling tired and short of breath, especially when physically active. Unfortunately, since many other diseases share these symptoms, diagnosing PAH is often delayed. This means that people living with PAH often do not get treatment until the disease has worsened. As PAH progresses, the signs and symptoms may be experienced more often and may begin to impact everyday activities. 

  • Chest pain
  • Trouble breathing
  • High blood pressure in the lungs
  • Blood clots
  • Swelling in the legs, hands and belly
  • Tiredness
  • Dizziness 
  • Fainting
  • Dry, sometimes bloody, cough
  • Blue-colored lips or fingers

Diagnosis 

PAH is typically diagnosed by a cardiologist (heart specialist) or pulmonologist (lung specialist). A cardiac catherization, also called a “right-heart cath” is used to confirm a diagnosis. The catheter measures the blood pressure in the right side of the heart and lungs. 

Current Treatments 

If left untreated, PAH can become life threatening. There is no cure, but there are more than a dozen treatments that can help people living with PAH improve their symptoms. If these medicines are not effective, some major surgical procedures (e.g. lung transplant or a heart procedure called atrial septostomy) can help, but also can have serious health consequences.

More options are needed to help improve PAH survival. The ELEVATE 1 clinical study will help researchers understand if RVT-1201 is safe and may be a treatment option for people living with PAH. 

PAH Resources 

  • Podcast series featuring interviews with patients, caregivers, physicians, advocates 

References

  1. DP, McGoon. "REVEAL: A Contemporary US Pulmonary Arterial Hypertension Registry. - Pubmed - NCBI".  Ncbi.Nlm.Nih.Gov, 2019, https://www.ncbi.nlm.nih.gov/pubmed/22379169. Accessed 7 Mar 2019.
  2. "Pulmonary Arterial Hypertension - NORD (National Organization For Rare Disorders)". NORD (National Organization For Rare Disorders), 2019, https://rarediseases.org/rare-diseases/pulmonary-arterial- hypertension/. Accessed 7 Mar 2019.
  3. "Genetic And Rare Diseases Information Center (GARD) – An NCATS Program | Providing Information About Rare Or Genetic Diseases.". Rarediseases.Info.Nih.Gov, 2019, https://rarediseases.info.nih.gov/. Accessed 7 Mar 2019.