What Is Familial Pulmonary Hypertension?

Familial pulmonary hypertension (or hereditary pulmonary hypertension) accounts for around 5 percent of cases. It is also known as primary pulmonary hypertension.

MORE: The pathophysciology of pulmonary arterial hypertension. 

The disease occurs three times more often in women than men and can develop at any age. It is often difficult to determine if the pulmonary hypertension is hereditary because it can skip generations, according to the Pulmonary Hypertension Association.

In most instances of familial pulmonary hypertension, a genetic mutation is to blame. The BMPR2 protein is responsible for the regulation of cell growth within the walls of the small arteries of the lungs. If this protein is mutated, it interferes with the life cycle of cells and they don’t die off as they should, resulting in an overgrowth of cells that begin to block the arteries and cause high blood pressure in the lungs.

There is a 50-50 chance that a child will develop the mutated gene if one of their parents possesses it and a 20 percent chance of developing familial pulmonary hypertension if they have the mutated gene. Blood tests can determine if a person has the faulty gene, although it won’t determine if the person will develop the disease. Find out more about familial pulmonary hypertension.

MORE: Seven diseases that may cause pulmonary hypertension. 

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