Pulmonary arterial hypertension: breathing new life into research

Posted 19 April 2018 in Men's Health, Womens health

Decoding DNA. Source: medicalimages.comPulmonary arterial hypertension is a rare but serious disease which affects smaller branches of the pulmonary arteries, which are the blood vessels which carry oxygen-poor blood from the heart to the lungs to be re-oxygenated, ready to be pumped back around the body. Currently, half of people with the condition die within five years of it first appearing, but will a new genetic discovery lead to earlier diagnoses and therefore a more positive outlook for those affected? (1, 2, 3)

What is pulmonary arterial hypertension?

Pulmonary arterial hypertension (PAH) is raised blood pressure in the smaller branches of the pulmonary arteries, caused by the arterial walls stiffening and thickening. It is difficult for blood to be pumped through stiff, thick arteries as there is less ‘give’, therefore the right side of the heart, which supplies the pulmonary arteries, is forced to pump harder to make sure enough blood reaches the lungs, and blood pressure rises. This increased workload can weaken the right side of the heart over time and eventually cause heart failure. (1, 3)

What causes PAH?

A number of pre-existing conditions can be linked to PAH, including scleroderma (a condition associated with thickened skin, which can occur in blood vessels), HIV, thyroid problems, sickle cell disease, and particular medication. However, a cause cannot be established in around 20% of cases. (1, 2)

What are the symptoms of PAH?

PAH can cause you to experience shortness of breath, feel tired, faint or dizzy, experience palpitations (unusually fast or erratic heartbeat), experience pain in the chest, and develop swelling in the ankles, feet, legs or abdominal area. Usually, exercise worsens these symptoms. Unfortunately, contrary to other types of pulmonary hypertension, symptoms often do not occur until the later stages of the disease, when a lot of the damage is already done. (1)

How is PAH treated?

If a pre-existing condition has led to PAH, the first step is to treat this condition if possible. (4)

To treat PAH itself, a range of medicines can be taken including anticoagulants (such as warfarin), diuretics, inhaled oxygen therapy, digoxin (encourages the heart to pump more forcefully whilst lowering heart rate). Sildenafil and tadalafil are primarily used to treat erectile dysfunction but can be prescribed by specialists to treat PAH. (4)

In severe cases, PAH which is not sufficiently controlled by medication may call for surgery or a lung transplant. (4)

Unfortunately, PAH cannot be cured, but the treatments may help to slow, halt or even reverse the progression of the disease to an extent. (4)

The latest news

An exciting discovery has been made by researchers working on the 100,000 Genomes Project - four new genetic mutations have been found that are responsible for causing PAH. Previously, experts knew of only one mutation linked to the disease. These mutations code for faulty proteins which are incorporated into tissues including the pulmonary arteries. Knowing about these mutations opens up the opportunity for more targeted treatments to be produced in future, and if people with a family history of PAH can be genetically screened for the condition, it enables earlier diagnosis and earlier interventions. (2)


Author: Gabby Gallagher MPharm

Medically reviewed by: Superintendent pharmacist Margaret Hudson BSc(Hons)MRPharmS 19/04/18

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