Expert Reviewed By: Dr. Brandon Colby MD
Pulmonary arterial hypertension (PAH) is a rare and life-threatening condition that affects the blood vessels in the lungs. PAH can occur on its own or be associated with other diseases, such as connective tissue diseases, congenital heart disease, HIV infection, portal hypertension, schistosomiasis, and chronic hemolytic anemia [1]. In this article, we will explore the role of genetic testing in understanding, diagnosing, and managing PAH associated with other diseases.
Genetic Factors in Pulmonary Arterial Hypertension
Recent research has identified genetic defects in patients with PAH associated with connective tissue disease (CTD-PAH), suggesting that genetic factors may contribute to pulmonary vascular disease in these patients [2]. In a study of Polish patients with idiopathic PAH, genetic alterations were found in 54.8% of subjects, indicating a likely causative role for these variants in the development of the disease [3]. Furthermore, a comparison of PAH cases associated with toxic-oil syndrome (PAH-TOS) to idiopathic and heritable PAH cases from the Spanish Registry of Pulmonary Hypertension revealed differences in clinical outcomes, highlighting the importance of understanding the genetic basis of PAH [4].
Uses of Genetic Testing in Pulmonary Arterial Hypertension
Genetic testing can be a valuable tool in the diagnosis and management of PAH associated with other diseases. It can help to:
1. Identify the Underlying Cause of PAH
By examining the genetic makeup of patients with PAH, clinicians can gain insight into the underlying cause of the disease. This can be particularly helpful when PAH is associated with another condition, as it can help to pinpoint the specific genetic factors that contribute to the development of PAH in these cases.
2. Guide Treatment Decisions
Understanding the genetic basis of PAH can help guide treatment decisions for patients. For example, if a patient is found to have a genetic variant that is known to be associated with a particular form of PAH, clinicians can tailor their treatment approach to target that specific variant. This personalized approach to treatment can lead to better outcomes for patients.
3. Inform Prognosis
Genetic testing can provide valuable information about a patient's prognosis. For example, some genetic variants may be associated with a more aggressive form of PAH, while others may be linked to a milder disease course. By identifying these variants, clinicians can gain a better understanding of the likely progression of the disease and provide appropriate counseling and support to patients and their families.
4. Identify At-Risk Family Members
PAH can sometimes be heritable, meaning that it can be passed down through families. Genetic testing can help identify family members who may be at risk for developing PAH, allowing them to be closely monitored and receive early intervention if necessary. This can be particularly important in cases where PAH is associated with another disease, as it can help to identify individuals who may be at risk for both conditions.
Conclusion
Genetic testing is a powerful tool in the diagnosis and management of pulmonary arterial hypertension associated with other diseases. By identifying the genetic factors that contribute to the development of PAH, clinicians can better understand the underlying cause of the disease, guide treatment decisions, inform prognosis, and identify at-risk family members. As our understanding of the genetic basis of PAH continues to grow, so too will the potential for personalized and targeted therapies for this complex and life-threatening condition.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)