Pulmonary Arterial Hypertension and Mutation in BMPR2 gene Is Paternal Age Involved in Non-Familial Cases

"New Point Mutations in Humans Are Introduced Through The Male Line" This Has Been Known Since the 1950s", "What is Intriguing is why society chooses
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Pulmonary arterial hypertension or PAH is not a common disease that people are aware of readily although it affects perhaps close to 800,000 people in the USA—at least those that are diagnosed. Women are more at risk than men for this disease. A mutation in the BMPR2 gene is said to cause PAH.
What happens is that the pulmonary artery, which carries blood from the heart to the lungs, is affected by hypertension. This latter happens because the small arteries in the lungs become narrower in diameter so naturally there is an increase in resistance of the blood flow through the lungs. To combat this situation pressure goes up in the artery and in the right ventricle, which helps to pump blood into the artery.

A person is affected because the increased resistance cannot be offset by the increased pressure, and the blood flow through the body is inadequate. The sufferer will feel faint and be short of breath. As the condition deteriorates there may be edema of the ankles, swelling in the legs, dizziness, chest pain, fluid in the abdomen, chronic fatigue, and the pulse rate may be aggravated.

Congestive heart failure has the same kind of symptoms so it should be ruled out before PAH is diagnosed.

As said before the BMPR2 gene mutation causes PAH because with the mutation, cell division is enhanced or cell death is reduced. So then the cells in the small arteries in the lungs multiply and narrow the passage. People inherit the condition such that each cell carries a copy of a modified BMPR2 gene, though it is not necessary that with the inheritance of this gene PAH is a certainty. As the modified gene is passed down through the generations the condition can begin earlier and earlier. Sometimes, however, PAH can occur in people who don’t otherwise have a family history of this disorder. Some of these cases are caused by mutations in the gene but generally the gene mutation has not been established.PAH can also develop after a bout of lupus, lung and liver diseases, rheumatoid arthritis, HIV, and pregnancy. If the condition has no underlying cause and exists by itself for reasons given above then medication is the answer. In some very rare cases lung transplant can take place. However if it is secondary PAH and caused by some other condition then treatment for the main disease can help to reduce its effects.

Your physician may prescribe any one of the following or in combination for your PAH” anticoagulants, high-dose calcium channel blockers, prostacyclin analogues, phosphodiesterase-5 inhibitors, diuretics, and oxygen. Some of these drugs are likely to have serious side effects so follow the dosage set by the doctor carefully.