Pulmonary Hypertension (cont.)
What causes primary pulmonary hypertension?
Primary pulmonary hypertension has no identifiable
underlying cause. Primary pulmonary hypertension is also referred to as
idiopathic pulmonary hypertension.
Primary pulmonary hypertension is an unusually
aggressive and often fatal form of pulmonary hypertension that commonly affects
young people. Whereas it is known that the arterial obstruction is caused by a
building up of the smooth muscle cells that line the arteries, the underlying cause of the disease has
long been a mystery.
A genetic cause of the familial form of primary
pulmonary hypertension has been discovered. It is caused by mutations in a gene
called BMPR2. BMPR2 encodes
a receptor (a transforming growth factor beta type II receptor) that sits on the
surface of cells and binds molecules of the TGF-beta superfamily. Binding
triggers conformational changes that are shunted down into the cell's interior
where a series of biochemical reactions
occur, ultimately affecting the cell's behavior. The mutations block this
process. This discovery may provide a means of genetic diagnosis and a potential
target for the therapy of people with familial (and possibly also sporadic) primary pulmonary hypertension.
How common is pulmonary hypertension?
There are no clear statistical data on the prevalence of this condition. This
may be due to the fact that many other diseases may cause or contribute to
pulmonary hypertension. Often, these other conditions may be more readily
diagnosed and treated without detecting pulmonary hypertension. Therefore, the
data on prevalence of pulmonary hypertension may be obscured.
Next: What are the signs and symptoms of pulmonary hypertension? »
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