Alternative Names
Ayerza Syndrome; familial primary pulmonary hypertension; FPPH; Idiopathic pulmonary hypertension; PAH; PPH; PPHT; primary pulmonary hypertension; sporadic primary pulmonary hypertension
Symptoms & Characteristics
Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, pressure increases in the pulmonary artery and in the heart chamber that pumps blood into the pulmonary artery (the right ventricle).
Signs and symptoms of pulmonary arterial hypertension occur when increased pressure cannot fully overcome the elevated resistance and blood flow to the body is insufficient. Shortness of breath (dyspnea) during exertion and fainting spells are the most common symptoms of pulmonary arterial hypertension. People with this disorder may experience additional symptoms, particularly as the condition worsens. Other symptoms include dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse.
Treatment
Early diagnosis, routine surveillance and treatment of pulmonary arterial hypertension may help to manage some of the symptoms and sometimes prevent related problems.
How Common Is It?
In the United States, about 1,000 new cases of pulmonary arterial hypertension are diagnosed each year. This disorder is twice as common in females as in males.
Genetics & Inheritance
Mutations in the BMPR2 gene cause pulmonary arterial hypertension.
Pulmonary arterial hypertension is inherited in an autosomal dominant pattern, which means each cell has one copy of an altered BMPR2 gene.
In many cases, however, people with an altered BMPR2 gene never develop symptoms of pulmonary arterial hypertension.
Inherited cases of this disorder are known as familial pulmonary arterial hypertension. As the altered gene is passed down from one generation to the next, the disorder generally begins earlier in life. This phenomenon is called anticipation.
Most cases of pulmonary arterial hypertension, however, occur in individuals with no known family history of the disorder. These cases are known as idiopathic pulmonary arterial hypertension. Some idiopathic cases are due to mutations in the BMPR2 gene, but in most cases a gene mutation has not yet been identified.
Genetic Testing
Clinical genetic testing for pulmonary arterial hypertension may be available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
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