I was recently diagnosed with PAH. Pulmonologist ordered some genetic testing. Seems I also have Reynauds and Scleroderma. I suspected the reynauds but not the scleroderma.
September 18, 2024
Thank you. So far we are managing symptoms. I just get so tired sometimes. But still swimming and taking my dogs out for runs!
September 20, 2024
So sorry to hear of your diagnosis'. I had a cousin who had Scleroderma.
September 19, 2024
Yes, there is a blood test that can help determine susceptibility to pulmonary arterial hypertension (PAH), especially if there is a family history of the condition. Genetic testing can identify mutations in genes such as BMPR2, which is the most common genetic cause of heritable PAH. This test usually involves a blood or Show Full Answer
Yes, there is a blood test that can help determine susceptibility to pulmonary arterial hypertension (PAH), especially if there is a family history of the condition. Genetic testing can identify mutations in genes such as BMPR2, which is the most common genetic cause of heritable PAH. This test usually involves a blood or saliva sample to examine your DNA. If a family history of PAH is suspected, additional testing may be recommended for family members, even if they don’t have any symptoms.
For your children, discussing genetic testing with a doctor can help understand the risks and benefits, and they may refer you to a genetic counselor for further support. Early detection through genetic testing can allow for prompt treatment and potentially a more favorable long-term outlook.
For more detailed information, you can refer to the resources provided by myPHteam:
- [Understanding Heritable Pulmonary Arterial Hypertension (PAH)](https://www.myPHteam.com/resources/understandin...)
- [Should You See a Doctor for PAH? 7 Questions To Ask Yourself](https://www.myPHteam.com/resources/should-you-s...)
September 18, 2024