Pulmonary Arterial Hypertension

Pulmonary Arterial Hypertension (PAH) is a rare but serious condition characterized by high blood pressure in the pulmonary arteries, which leads to progressive heart failure. The disease may be idiopathic, meaning without a known cause, or it may be associated with other conditions such as autoimmune diseases. In many cases, PAH has a genetic basis, making genetic testing a valuable tool for early diagnosis and personalized management of the disease.

Research has shown that mutations in specific genes can increase the risk of developing PAH. The key genes examined in the genetic test include:

• BMPR2: The most frequently mutated gene in the familial form of PAH. A mutation in this gene disrupts the regulation of cell growth in the pulmonary vessels, leading to increased arterial pressure.
• ACVRL1 and ENG: Associated with Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia), which can cause PAH.
• CAV1 and KCNK3: Less common genetic mutations related to the disease.

How Can the Genetic Test Help?

The genetic test for PAH offers significant benefits:

• Individuals with a family history of PAH can determine whether they carry predisposition mutations and initiate regular medical monitoring.
• Identifying specific genetic mutations can guide therapeutic approaches.
• If a pathogenic mutation is detected, family members can be tested to determine if they are at risk of developing the disease.

Who Should Consider Genetic Testing for PAH?

Genetic testing is recommended for:

• Individuals with a family history of PAH.
• Patients with idiopathic PAH, to investigate whether there is a genetic cause.
• Family members of patients with known genetic mutations, for preventive evaluation.