New guidelines published for genetic testing and counselling in pulmonary arterial hypertension

A summary of research published in the European Respiratory Journal

New guidelines have set out how genetic testing and genetic counselling could be used for pulmonary arterial hypertension (PAH).

PAH is caused by high pressure in the blood vessels that carry blood from the heart to the lungs. Some forms of PAH are linked to your genes (known as heritable PAH).

Genetic tests can gather information on every gene in your body. Results can reveal errors in a person’s DNA (known as a genetic mutation). This can tell us whether PAH can be passed from a parent to a child. Tests can also find genes that make a person more likely to develop PAH. In genetic counselling, you meet with a trained professional. They can help you to understand how having the test might impact you and your family. You will talk through what the results might be and any risks or benefits of having the test.

There is a new guideline to help healthcare professionals answer questions from patients and family members about genetic testing.

Key recommendations include:
  • People diagnosed with a few specific types of PAH should be offered genetic counselling and genetic testing. These include:

– Idiopathic pulmonary arterial hypertension (IPAH)

– Familial Pulmonary Arterial Hypertension (FPAH)

– Pulmonary veno-occlusive disease (PVOD)

– Pulmonary capillary hemangiomatosis (PCH)

– Anorexigen-induced and congenital heart disease associated PAH

  • Genetic testing should look at all genes that are likely to be linked with PAH. The list should be updated when we learn about new, relevant genes.
  • Families of people with PAH caused by genetic factors should be offered genetic testing.
  • People who are found to be at risk of PAH should receive regular check-ups and be aware of symptoms to look out for. This will help them to get diagnosed and treated early on.

Further reading

Read the original research paper to see the full list of recommendations:

Title: Genetic counselling and testing in pulmonary arterial hypertension – A consensus statement on behalf of the International Consortium for Genetic Studies in PAH


Access guidelines about treating PAH: