Pulmonary Arterial Hypertension (PAH)
Description
Pulmonary arterial hypertension (PAH) is a rare but serious lung condition that affects the arteries carrying blood from the heart to the lungs. In PAH, these arteries become narrowed and thickened, making it harder for the heart to pump blood to the lungs. This can lead to shortness of breath, fatigue, and eventually heart failure. This blog will discuss the causes, symptoms, diagnosis, and management of PAH, as well as provide resources for thriving with this condition.
Genes Involved
Genetic factors play a role in some cases of PAH. Genes associated with PAH include:
- BMPR2
- ACVRL1
- ENG
- KDR
- SMAD9
- TBX4
- CAV1
- EIF2AK4
- ATM
- CHEK2
- TP53
Further research is ongoing to understand the complex interplay of genes and environmental factors in PAH development.
Recognizing the Signs and Symptoms
Recognizing the signs and symptoms of PAH early is crucial for effective management. Common symptoms include:
- Shortness of breath, especially during physical activity
- Fatigue
- Chest pain
- Dizziness
- Swelling in the legs and ankles
- Rapid heartbeat
- Bluish discoloration of the fingers and toes
- Syncope (fainting)
If you experience any of these symptoms, it is essential to see a doctor immediately.
Causes
The causes of PAH are not fully understood, but several factors can contribute, including:
- Genetics: Some cases of PAH are linked to inherited genetic mutations.
- Connective tissue diseases: Conditions like scleroderma and lupus can increase the risk of developing PAH.
- HIV infection: HIV infection is a known risk factor for PAH.
- Portal hypertension: High blood pressure in the portal vein (which carries blood from the intestines to the liver) can lead to PAH.
- Congenital heart defects: Certain heart defects present at birth can predispose individuals to PAH.
- Drugs and toxins: Certain drugs and toxins, like amphetamines and some chemotherapy agents, can damage the lungs and lead to PAH.
- Unknown causes: In many cases, the cause of PAH remains unknown.
Inheritance/recurrence risk
The inheritance of PAH depends on the underlying cause. For genetic forms of PAH, the inheritance pattern can vary. Some forms are autosomal dominant, meaning a single copy of the mutated gene is enough to cause the disease. Others are autosomal recessive, meaning both copies of the gene need to be mutated. The risk of recurrence for PAH is dependent on the specific cause and family history.
