Key points:
- Researchers discovered a gene variant that causes hypertension—and a way to cure it.
- The variant makes it difficult for doctors to diagnose the patient properly.
- The cure is surgical, but the team is now exploring alternatives.
Clinicians at Queen Mary University of London and Barts Hospital have identified a gene variant that causes a common type of hypertension—and a way to cure it.
One-in-20 people with hypertension present with a tiny benign nodule that produces the hormone aldosterone, which controls how much salt is in the body. Now, scientists have discovered a gene variant in some of the nodules that leads to intermittent over-production of the hormone.
The newly discovered variant causes issues multiple problems that make if difficult for doctors to diagnose some patients with hypertension. For example, the variant stops cells in the body from talking to one other, meaning there is no direction to stop producing aldosterone. The fluctuating release of aldosterone throughout the day is also an issue for doctors, which at its peak causes salt overload and hypertension. This fluctuation explains why patients with the gene variant can elude diagnosis unless they happen to have blood tests at different times of day.
But, the researchers discovered that this form of hypertension could be cured by unilateral adrenalectomy, or removing one of the two adrenal glands. Following removal, previously severe hypertension despite treatment with multiple drugs disappeared, with no treatment required through many subsequent years of observation.
The initial patient in this study was detected when doctors noticed fluctuation in his hormone levels during his participation in a clinical trial of treatments for difficult hypertension. Fewer than 1% of people with hypertension caused by aldosterone are identified because aldosterone is not routinely measured as a possible cause.
The study authors are now recommending that aldosterone is measured through a 24-hour urine test rather than one-off blood measurements.
The Queen Mary University of London team says they are now investigating whether momentary cauterization of the tiny nodule could be an alternative to surgical removal of the whole adrenal gland.