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Innovation

3 Smart Tech Tools That Help Diagnose Pulmonary Arterial Hypertension

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In many cases, it can take more than two years to diagnose this rare disease—and that delay can be deadly. Johnson & Johnson is on a mission to identify patients earlier by harnessing the power of artificial intelligence, smartphone apps and more.
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Shortness of breath. Fatigue. Dizziness. These fairly common symptoms can accompany many different illnesses.

And when patients seek treatment, doctors often first consider asthma or congestive heart failure. What's dangerous is that doctors may be less likely to recognize these symptoms as the early stages of the rare but potentially fatal condition pulmonary arterial hypertension (PAH).

PAH is a type of high blood pressure in the lungs that occurs when the organ’s tiny arteries narrow, stiffen and block blood flow. As a result, the right side of the heart experiences extra stress since it has to work harder to pump blood through the tightened arteries and reach the rest of the body. Ultimately, this leads to right-sided heart failure.

Because it's a rare condition, the exact prevalence of PAH is unknown, but evidence suggests it affects women more than men, and it’s estimated that 500 to 1,000 new cases are diagnosed in the U.S. each year.

“The difficulty in diagnosing comes from the fact that the symptoms the patients first describe are incredibly nonspecific,” says Sean Studer, M.D., Vice President of Medical Affairs at the Janssen Pharmaceutical Companies of Johnson & Johnson.

In many cases, it takes as long as two years for a patient to receive an accurate PAH diagnosis. Though there’s no cure for the disease, diagnosing PAH as early as possible is critical, as it may help to improve survival odds.

This is why Johnson & Johnson is committed to uncovering new ways to help diagnose patients earlier. Central to that mission: the power of technology. By harnessing artificial intelligence, apps and other digital innovations, healthcare professionals may be able to figure out sooner who’s most at risk for PAH and hopefully save more lives.

Here, three smart tech tools that Johnson & Johnson has helped develop to do just that.

1.

An Algorithm That Helps to Identify High-Risk Connective Tissue Disorder Patients

One group that's at a higher risk than average for PAH is people with connective tissue disorders, like systemic scleroderma, also known as systemic sclerosis (SSc), and lupus. That’s because they are more likely to develop the blockages in the small arteries that carry blood from the right side of the heart to the lungs.

According to Dr. Studer, it’s vital for these patients to get screened for PAH annually via an echocardiogram—which uses sound waves to detect abnormalities of the heart—but many do not complete this important screening test.

“Many patients don't want to undergo a larger set of screening tests each year if it's not necessary, and healthcare providers don't always want to order those tests for the same reasons,” he says. Even physicians who regularly treat patients with connective tissue disorders may not encounter PAH often, since it’s so rare.

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expand 4 images of the DETECT screening tool iPhone app

That's why Johnson & Johnson developed the DETECT Screening Tool: for healthcare specialists who treat patients with connective tissue disorders like SSc and who are familiar with PAH as a complication of SSc.

Clinicians input eight different criteria into the app on their iPhone or Android device, such as a patient’s serum urate levels (a measure of how uric acid is metabolized and eliminated by the kidneys), NT-proBNP (a blood test to detect heart failure), the presence of spider veins, the results of pulmonary function tests (to measure how well the lungs are functioning) and other factors.

From those parameters, the app uses an algorithm to provide a “propensity score” for the patient’s risk for PAH and recommends further tests—such as an echocardiogram or eventually a right heart catheterization—even if the patient doesn’t show symptoms yet, Dr. Studer says.

“An app like this allows healthcare professionals to take the very recent past and the current labs and come up with something that’s objective,” he says. Even if a patient tells their doctor that they feel fine, the app provides a realistic view of whether more testing may be needed.

Research suggests the DETECT algorithm may reduce missed PAH diagnoses: It had a 4% rate of missed PAH diagnoses compared with 29% using other guidelines.

“When the app says, ‘Hey, this is something to worry about,’ it elevates something that would be lower on a healthcare professional's list up into something you really should be considering in the moment,” Dr. Studer says.

To learn more about the DETECT Screening Tool, including the intended use statement and appropriate use, please click here.

2.

Artificial Intelligence That Gleans Insights From Echocardiograms

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expand An image from an echocardiogram

An image from an echocardiogram

An echocardiogram, or echo, is a well-established test for PAH. But since the disease is so rare, Dr. Studer says experts reading the echocardiogram may not encounter signs of PAH very often, especially in its early stages. That can lead to missed occurrences of the disease and misdiagnoses.

“When many readers of echocardiograms are looking for presentations of more common illnesses, such as left heart failure, it's a challenge to pick up PAH,” Dr. Studer says. “Looking for these rarer, right side of heart failure signs can be tough.”

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In the near term, these technologies offer a way to have a rapid impact on PAH diagnosis. What's exciting is that it takes the information that's out there already and just allows us a much better way to use it.

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Artificial intelligence (AI)—that is, using computer systems to perform certain tasks that normally require human intelligence—may help clinicians identify the disease earlier and more quickly and accurately so that patients can access treatment and achieve better long-term outcomes. Johnson & Johnson is collaborating with several companies on the technology, including a partnership with med-tech firm US2.ai on US2.v1, a tool to automate the analysis of echocardiograms.

“AI offers the opportunity to take that echo and present something that isn't always obvious to the naked eye,” Dr. Studer says. For example, when heart pressure increases, the muscle of the heart can thicken and the size of the chamber into which blood comes can widen and dilate, and this may not be noticeable early on—but AI may pick up on it.

In other words, adding AI to the well-established echocardiogram brings another layer of decision support and assistance to early PAH detection, signaling to the echocardiographer that something may need a closer look.

3.

A Tool to Track Disease Progression

For patients with PAH, ongoing risk assessments are crucial to evaluate how their disease is progressing, especially if it’s worsening.

Often, relying on a physician's general impression can lead to an over- or under-estimation of risk, since many physicians don't have extensive experience treating patients with PAH. Incorporating the REVEAL Lite 2 risk calculator, which the Janssen Pharmaceutical Companies of Johnson & Johnson helped develop, may assist in addressing this challenge. REVEAL Lite 2, which is an abridged version of the Registry to Evaluate Early and Long-Term Disease Management in PAH (REVEAL) 2.0, is derived from a registry of the demographics of PAH patients, including their disease progression and how the disease is being managed.

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The tool evaluates six variables, including vital signs, a six-minute walk test, the NT-proBNP test and renal insufficiency, and gives the patient a score between one and 14. Based on the score, physicians decide the best next steps.

“It gives you an objective way to assess risk,” says Dr. Studer. “The idea is that the doctor will take action as a result of the number the calculator provides, versus from just talking to the patient and looking over their laboratory results,” he explains. The goal is to help health centers incorporate REVEAL risk calculators into their electronic health records so that existing data is pulled in to make assessing risk easier.

Another benefit of REVEAL risk scoring is that it helps patients understand why treatments are recommended. For example, Dr. Studer says, if a patient is taking two medications for PAH and a doctor prescribes a third, the patient may be hesitant, especially if they’re feeling better. The REVEAL score offers a tangible explanation.

“If they went to a different practitioner, the risk calculator would come out the same way,” he says. “So it helps healthcare providers align to the fact that this risk score means something—and that they have another opportunity to assess the appropriate way to manage the patients.”

Ultimately, bringing new treatments to bear and one day curing this disease would be wonderful, says Dr. Studer. “But in the near term, what's exciting is that these technologies may offer a way to assist healthcare professionals in diagnosing PAH."

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You can access resources for coping with the condition—and read personal stories—by following #Heart2CurePH.

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