Rosen said he repeatedly asked his doctors if an undiagnosed illness might be to blame. Each time, he received the same answer: he suffered from “essential hypertension”, that is, high blood pressure without an underlying cause.
Sometimes, doctors told him, the condition, also known as primary hypertension, can be difficult to control. Poorly controlled high blood pressure increases the risk of heart disease, stroke, irreversible kidney damage and premature death.
More than a decade would pass before Rosen learned that he had asked the right question but received the wrong answer. His persistent hypertension had an underlying and treatable cause.
“He was taking a bucket of medication,” which was the first clue, noted William F. Young Jr., a Mayo Clinic expert whom Rosen consulted in 2019. Young said Rosen’s case was “extremely typical » patients whose late diagnosis leads to avoidable harm.
For a variety of reasons, observed Young, a professor of medicine at Mayo, “doctors often seem not to think about what might be causing ‘resistant hypertension’ – high blood pressure that is not controlled by three or more medications. This is an oversight he is trying to remedy.
“To be honest,” Young added, “it’s one of the easiest things to diagnose.”
Now 60, Rosen, senior vice president of development for a company that builds rehabilitation hospitals, suspects he developed high blood pressure in his late 20s, although there are no way to find out. He hated having his blood pressure measured, so readings were limited to periodic doctor visits.
These measurements regularly exceeded 140/90 mmHg, the threshold which then signified hypertension. (It has since been lowered to 130/80.) Rosen said he got rid of that diagnosis by assuring doctors he had “white coat syndrome,” also known as ” white coat hypertension” – high readings in a medical setting but otherwise normal. Due to his youth, doctors generally agreed.
In fact, Rosen didn’t know if that was true; he assiduously avoided taking his blood pressure at home. “It was anxiety-provoking,” he said. “It was always high.” He hated feeling the cuff squeeze his arm and preferred to assume he didn’t have high blood pressure.
Not all doctors were convinced. Her allergist in Atlanta, where Rosen was then living, expressed skepticism about the white coat explanation. “He said, ‘I don’t know. You’re too young for high blood pressure,'” Rosen recalled.
In 2001, after her internist diagnosed her with hypertension, Rosen began taking a beta-blocker, a drug that blocks adrenaline. When her blood pressure didn’t change, her internist added two more classes of drugs: a calcium channel blocker and an ACE inhibitor. When this trio proved ineffective, the doctor increased the doses.
In his mid-40s, Rosen learned he had high cholesterol and type 2 diabetes, a chronic condition in which sugar processing is impaired. Anti-cholesterol and anti-diabetic drugs controlled these problems.
In 2011, after Rosen moved to the San Diego area, her new primary care physician changed her blood pressure medications. When this resulted in only a minimal reduction, the doctor added two more drugs.
But the high readings persisted. “It would be 148/90 when the nurse measured it multiple times on the machine,” Rosen said. At the end of one visit, Rosen’s doctor would do a quick hand reading and announce that he was down to 118/69.
Rosen, whose sister is a doctor, was relieved. “I assumed he was a very good doctor,” he said. “And I liked his response.”
But over the next few years, he grew increasingly uncomfortable. Although he was taking his medication faithfully, too many readings were too high to make him believe his blood pressure was under control.
In 2017, after both of her parents underwent heart bypass surgery for blocked coronary arteries, Rosen saw a cardiologist.
The cardiologist ordered a stress echocardiogram, a test that measures how well the heart is working. It showed that Rosen’s heart appeared to be normal, but the cardiologist was alarmed by his blood pressure, which at times reached 179/85, and increased the amount of the only drug Rosen was not taking to the maximum dose. He suggested that Rosen’s hypertension could be the result of a kidney problem, but a kidney scan found nothing.
At this point, Rosen told his family doctor he wanted to start looking for a “zebra,” the term doctors use for a rare diagnosis. The doctor ordered tests for pheochromocytoma, a rare and usually benign tumor that starts in one or both adrenal glands, located at the top of the kidneys.
After tests revealed no “pheo,” Rosen was referred to an endocrinologist, a doctor who specializes in treating hormone-related illnesses.
‘You do not have it’
Rosen saw the first endocrinologist in November 2018. She suspected he might have the disorder most commonly associated with resistant hypertension – primary aldosteronism (PA), also known as Conn syndrome or Conn syndrome after University of Michigan endocrinologist Jerome W. Conn, who discovered it in 1954.
PA is caused by too much aldosterone, a hormone produced by the adrenal glands. Excess aldosterone can cause the kidneys to retain sodium and lose potassium, which increases blood pressure.
The disease can be detected by blood tests that measure levels of aldosterone and renin, an enzyme made in the kidneys that helps control blood pressure, and then calculating the ratio between the two. Additional tests are needed to confirm the diagnosis and determine if one or both adrenal glands are affected. In the latter case, AP is treated with medication. But in 30% of cases, PA is caused by a benign tumor on a gland. Surgical removal of this gland can normalize blood pressure.
While awaiting the results of her blood tests, Rosen pored over the voluminous clinical guidelines for the diagnosis and treatment of PA published in 2016 by the Endocrine Society, the international medical organization for endocrinologists.
He found that sleep apnea and low potassium, which he suffered from, are associated with the disease. And he was comforted when his blood tests seemed to show it.
“To me, that seemed like a really good thing, because it’s treatable,” Rosen said.
But the young doctor working with his endocrinologist ruled out that possibility. ” You do not have it. your aldo[sterone] is too low,” Rosen recalls. Rosen said he protested that his understanding of the Endocrine Society’s 50-page guidelines, as well as his calculation of the blood test report, suggested otherwise.
The comrade disagreed. Rosen said he ended the call and immediately began looking for a new specialist.
Soon after, Rosen saw a second endocrinologist, who agreed PA seemed likely. She ordered further tests as well as a CT scan, which provided confirmation. The final step was a technically delicate procedure known as an adrenal vein swab, which involves inserting a catheter into the adrenal veins to determine if one or both are affected. This finding would guide treatment.
After consulting with Young, the second endocrinologist advised Rosen to undergo the vein sampling procedure at Mayo. In April 2019, Rosen and her sister flew to Minnesota and met Young, the clinic’s former president of endocrinology and former president of the Endocrine Society.
An interventional radiologist specializing in the vein sampling procedure found that only one adrenal gland was involved, which meant Rosen was a candidate for surgery. (“You only need half an adrenal gland to be totally normal,” Young said.)
In June 2019, Rosen underwent laparoscopic surgery at UCLA Medical Center. Over the next year, he lost 35 pounds and his health improved dramatically. He now needs a low dose of a single blood pressure medication to get readings of 124/80.
“I feel much better now than before,” he said. “And I’m much more active.”
But the late diagnosis required an irreversible assessment. Years of uncontrolled high blood pressure caused stage 3b kidney disease, for which Rosen takes medication and sees a kidney specialist regularly. If his illness worsens, Rosen has been told he may need a kidney transplant.
Young said he sees patients like Rosen too often, one of the main reasons he became a PA screening evangelist.
Although doctors have long learned that the disease is rare, Young said recent studies show that is not the case. Researchers estimate that 5-10% of people with high blood pressure and 20% of those with resistant hypertension have PA. Most don’t know because they have never been tested.
A 2020 Stanford study found that only 2.1% of patients with resistant hypertension were screened for PA; at the University of Minnesota, the figure was 4.2%. And a 2003 Australian study found a surprisingly high number of PA cases among a group of patients with high blood pressure.
“It’s vastly underdiagnosed and not just in the United States,” said Young, who advocates screening anyone with high blood pressure at least once. “From my perspective, it comes down to clinician awareness. Endocrinologists and nephrologists think about it. Primary care physicians, not so much.
People with PA are more likely to develop heart and kidney disease and have poor quality of life, Young noted in a 2018 article. Prompt treatment can reduce these outcomes.
Rosen said he, too, sought to educate his doctors. “I’ve tried to tell every doctor I see that if you have one in three patients or more [blood pressure] drugs and they’re not well controlled, you have to test them” for PA, he said, echoing the guidelines of the Endocrine Society.
After his surgery, Rosen said he “sent beautiful letters to all my old doctors saying, ‘You missed that.’ “The only doctor he heard of was the first endocrinologist, who called to apologize, saying the guy had misinterpreted Rosen’s tests.
Rosen said he hopes his experience will spare others. “Every day I wish I had done more research,” he said. “If I had done it 20 years ago, I wouldn’t have had kidney damage.”
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