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Silent illness: Pulmonary hypertension is a rare disorder that's hard to diagnose

Katy Doak was 4 years old when she unexpectedly fainted, the first hint that something was seriously wrong with her.

Later, looking back, her mom would remember that she wasn't as active as other little kids. She seemed drawn to "quiet" activities.

Christina and Jim Doak, of Sandy, did not know that their daughter was about to get a life-changing diagnosis: The disease that was afflicting the little girl, who is now 9, was pulmonary hypertension (PH). The Pulmonary Hypertension Association explains it as a rare disorder in which the pressure in the blood vessel that leads from the heart to the lungs rises above normal levels. It is unrelated to general high blood pressure. And it can be life-threatening.

Dr. Ronald Day, a cardiologist at Primary Children's Medical Center, says it is a condition that is as diverse as the people who have it.

It can show up in the young, as it did with Katy. It can run in families or it may not. It may first appear in adulthood. It can be its own disease, called primary pulmonary hypertension, or it can be incident to other diseases, arising as a complication of an atrial or ventricular septal defect or an inflammatory or collagen vascular disease, for instance. It can be related to emphysema or bronchitis, HIV or liver disease. The cause may simply be a mystery.

The symptoms include shortness of breath with little exertion, fatigue, chest pain and dizzy spells, among others. It affects all ages and ethnic backgrounds and does not favor one gender over the other.

It is often misdiagnosed and may progress to a late stage by the time a correct diagnosis is made, because the symptoms could be related to any number of conditions. Katy was actually diagnosed pretty fast, based on the result of an echocardiogram and an electrocardiogram.

It was not good news.

When he's trying to explain pulmonary hypertension to families, Day shows them a slide of the Los Angeles freeway. Normally, if it's not too crowded and peak traffic is a couple of hours away, things move pretty well. But pulmonary hypertension is like that freeway when too many cars are trying to jostle their way through. Everything stops.

"When you try to get more blood through, like you do during exercise, nothing moves." Blood cannot flow from the right side of the heart out to the lungs. When the condition kills, it's typically because the right section of the heart just plain wears out from overexertion, he says.

Airway obstructions can contribute to the problem, so children who have sleep apnea are more prone to PH. Fix the apnea and the PH may not advance. When the PH is the result of a heart defect that was subsequently successfully repaired, the PH might go away over time. Or it might not. Ditto in premature babies whose lungs and hearts improve as they get bigger. It's hard to predict what course PH will take, Day says.

It can include pulmonary arterial hypertension (which Katy has), pulmonary venous hypertension caused by diseases of the heart's left side, PH associated with disorders of the respiratory system or hypoxia, PH caused by chronic thrombotic or embolic disease or something different. Because early symptoms like shortness of breath are not uncommon and could have a number of causes, diagnosis is often delayed. Once it is diagnosed, other tests to find the cause may be helpful. But often, the cause is never found.

In Katy's case, doctors first considered whether she had seizure problems but discounted that. Next, they sent her to Primary's cardiology department, where Christina Doak says the diagnosis was made immediately. The sooner a diagnosis is made and treatment begun, the better, "so we were lucky in that way."

Katy had abdominal pain that was likely caused because she wasn't getting good blood flow to her bowels. But that can lead doctors to look at entirely different things until they can be ruled out. Such symptoms may delay a valid diagnosis, Day says. Correct diagnosis and effective treatment require health-care providers with some expertise in PH.

The prognosis is as varied as the patients and the details of their disease. Katy had severe pulmonary blood pressure. Mom Christina describes the disease as generally progressive and terminal over time.

"It depends on the health of the patient and how much damage has been done to the lungs and heart by the time it's diagnosed." It also depends, adds cardiologist Day, who sees most Utah children with PH, on how they respond to treatment.

The Doak family from the beginning opted for an aggressive treatment program, traveling out of state for some of Katy's care, including an intravenous medication that she's been on continuously for many years now. Not all patients require or opt for that level of treatment.

Doctors use a heart catheterization to determine actual pressure, going in through the lung or neck. That also allows a test to see how well the patient responds to oxygen, which may be the primary or even sole treatment for some with PH.

But some patients do not respond to oxygen, Day says. Treatment may require some trial and error to see what works in an individual case. Some patients may respond positively to a tiny dose of nitric oxide to help keep vessels relaxed — not to be confused with nitrous oxide, the so-called laughing gas.

Nitric oxide is a tricky treatment that requires special expertise and federal OK. Day uses it for patients in a limited set of circumstances as part of an FDA-approved research project.

Some patients respond well to calcium channel blocker blood pressure medication, Day says. But in cases where there's not a positive response, that type of medication can actually increase the likelihood of fainting and thus the danger.

Still, there are several other types of medication to try.

One medication relaxes the blood vessels of the lung, while another is an endothelin receptor antagonist. Endothelin is a protein that helps keep vessels tight, similar in action to snake venom, one of the most powerful constricting agents of vessels known. When the body has a good balance between its constrictors and relaxers, pulmonary pressure is good, so adjusting that tension can help. Another type of medicine is a prostacyclinanalog.

Finding the right treatment can be tricky and time-consuming. And for the most severe cases, lung transplant is the best option.

Day says he hopes for a time when drugs are developed that are cure oriented. Right now, the end point that leads to approval falls far short of that, he says, set at measures like the ability to walk an extra 50 feet within six minutes while on the proposed medication compared to without it.

Meanwhile, Katy has to pace herself, but her parents are focusing on keeping the little girl as active and involved as possible.

Fatigue is a fact of life for the fourth-grader, who can attend public school only because she has a special-needs school plan that allows her to pace herself based on how she's feeling.

She can go to school late if needed, for instance, if she's exhausted. For exercise, she takes ballet, but that leaves her depleted for other things. She exhausts easily when she's engaged in heavy activity, so she does miss school those mornings.

Her folks struggle with finding the right balance for her. She's a little girl and needs to do little-girl things, too.

"If it's all school, she has no energy to have fun," says her mom. Fortunately, she's very bright and manages to keep up academically with her classmates, Christina Doak says.

More information on PH is online at