Should other members of my family be tested for PH?


 

In most patients with PH, the risk of PH in the other members of their family is extremely small. These other family members do not need to be tested for PH.

For some patients with PAH, their family members may be at increased risk of PH. In close family members (parents, siblings, children), the risk of PH is about 1 in 10 (10%).

  • Patients who have PAH due to a known mutant gene or DNA error. For example, patients with a known BMPR2 gene mutation. Other family members may also have this mutant gene.
  • Patients with PAH due to familial PAH (FPAH). Other family members are at higher risk of also developing FPAH.

Recommendation: In a family with 2 or more members who have been diagnosed with PAH, close family members should be assessed by a physician for the presence of PH. These family members should also have an echocardiogram to detect (also known as screening) PH.