Busting Clots and Myths: Why Early Diagnosis Matters

Early and accurate diagnosis is the key to improving patient treatment outcomes and quality of life. To save lives, doctors must be able to recognize symptoms and understand the correct process of diagnosis. PHA’s Early Diagnosis Campaign: Sometimes it’s PH is actively working to break down the barriers to accurate diagnosis through physician and patient education and awareness. By decreasing the time to diagnosis, we save lives. 

The following guest post by Dr. Manreet Kanwar tells the story of Angel, a chronic thromboembolic pulmonary hypertension (CTEPH) patient who went through the complexity of the health system to finally reach her diagnosis months after symptom onset. Her story shows the struggles patients must go through to get answers and proper treatment. In honor of PH Awareness Month and CTEPH Awareness Day on Nov. 18, please read and share Angel’s story for Better Understanding, Screening & Treatment (BUST) of CTEPH. Also, tune into the CTEPH Q&A webinar with CTEPH specialists Dr. Bill Auger, Dr. Gustavo Heresi-Davila and Crystal Weber, RN, on CTEPH Awareness Day (Nov. 18) at 5:00 p.m. ET. Register now for this webinar.

Until she is ready to share this story in her own words, let’s call her Angel…

I recently met Angel and her husband Bill in my clinic, and their story reminded me of why the focus on early diagnosis in CTEPH remains key in offering a potential cure for this deadly disease.

Angel lives in a small town in the Midwest with her husband, Bill, and their teenaged son. When Angel turned 40 a couple years ago, it was only the occasional migraine that could slow her down, but that would soon change.

It started slow. At first when Angel noticed that she had to stop and catch her breath every once in a while going up a flight of steps, she didn’t really think much of it, and gradually, it became a thing of routine. She promised herself that she would join a gym, guessing that she was just out of shape. Surely, she thought, that must be it.

Weeks went by and everyday activities started seeming like chores, until finally she could not ignore her symptoms any longer. After a visit to the family doctor, chest x-rays and a round of antibiotics, she thought she would be good as new. But the breathing just did not get better, and now Angel was starting to get and stay tired all the time. After another trip to the family doctor and some blood tests, there were still no answers to be found. She underwent a breathing test (she had some exposure to second hand smoke at work) and was prescribed a trial of nebulizers. After a few weeks, it was clear that these were not going to do the trick either. Since all her test results looked ok, it was decided that her symptoms were "probably just related to anxiety." Another three months went by, and now Angel was convinced that something was really wrong. After yet more blood tests and reassurances, Angel asked for a second opinion. This time, a CT scan of her lungs was ordered.

Shortly after undergoing the scan, Angel received a call to schedule an urgent follow-up appointment. She was told that her scan was "abnormal" and that she may have a condition called sarcoidosis of the lungs. This could be, she was told, the explanation for her symptoms. Since there are no blood tests to confirm sarcoidosis, Angel was referred to a surgeon for lung biopsy. She spent the next week reading all about sarcoidosis on the Internet.

On the day of her appointment, Angel and Bill arrived at the multi-specialty clinic only to realize that they had accidently made an appointment with another physician who happened to share the same last name as her surgeon! Luckily for them, he was a pulmonary specialist. He reviewed Angel’s CT scan and his words left them stunned. He told Angel that she did not have sarcoidosis but rather another rare condition called pulmonary hypertension. The next step was a series of tests to confirm the diagnosis.

Angel and Bill returned home more confused and concerned than ever and started reading up on PH. As she read the symptoms, she felt that they described her experience; but how could she have acquired this condition? They were determined to find out and made another appointment with yet another specialist.

The weekend before her appointment, Angel found herself feeling more tired than usual. As she got up from finishing a meal, she suddenly felt a wave of dizziness pass over her; and then, Angel passed out. She soon found herself in the ICU undergoing a flurry of new tests. An echocardiogram showed that her pulmonary pressures were more than 100 mmHg (normal is less than 25), and Angel’s pulmonary hypertension was soon confirmed via a right heart catheterization.

Angel was fortunate that the center where she was being treated knew to order a V/Q scan to rule out the presence of CTEPH. In her case, the scan confirmed that she had a number of old blood clots in both lungs. Angel finally had a diagnosis: chronic thromboembolic pulmonary hypertension (CTEPH). Angel was promptly started on blood thinners and IV drugs to lower her pulmonary pressures, and for the first time in a while, she felt “like her lungs could finally get some air.”

A week later, Angel was back on her feet and had been referred to our clinic to be evaluated as a potential candidate for pulmonary thromboendarterectomy (PTE) surgery, a surgical intervention that would potentially offer her a chance for a cure from this otherwise progressive and potentially deadly disease. As part of the evaluation, Angel also underwent several tests to rule out other potential causes for her PH and her blood clots.

Angel is currently scheduled to have PTE surgery this month.

Along the way to her CTEPH diagnosis, there were a lot of “what ifs” for Angel. What if the initial CT scan had been done with contrast? (In order for a CT scan to detect clots, IV contrast has to be used.) What if she had not accidently seen the “wrong” doctor who had her on the right path? What if she had not persisted in her quest to seek out the right answers?

But despite all this, Angel tells me that she is focused on the future, thankful that she finally understands why she felt the way she did and glad that she has a shot at a possible cure.

Last, but not least, Angel has promised that after she’s recovered from her surgery, she will share her journey in her own words, as a follow-up to this blog.

So, stay tuned!

Dr. Hudak's Delayed Diagnosis Story...

During the past year, PHA has been developing an Early Diagnosis Campaign.  Titled "Sometimes It's PH", the campaign emerged from recent publications showing that over the past 20 years, despite the increased visibility for PH, there has been little if any reduction in the time from onset of symptoms to point of diagnosis.  With 9 FDA-approved treatments available - all over the past 17 years, eight during the past 12 years - earlier diagnosis is an essential pathway to improving patient care and extending life.  Dr. Lynn Brown at the University of Utah leads the campaign and writes a column that circulates quarterly to 40,000 physicians through PHA's medical journal, Advances in Pulmonary Hypertension.  Here is her newest column.  It is the compelling diagnosis story of Dr. Bonnie Hudak, a pulmonologist living with PH... 

Even a Physician with PH Can Be Misdiagnosed

By Lynn Brown, MD, Sometimes It's PH Campaign Chair

Dr. Hudak

Diagnosing PH is often so tricky that even a patient practicing pulmonology can experience delayed diagnosis.  That’s what happened to Bonnie Hudak, MD, a new member of the Sometimes it’s PH early diagnosis campaign’s Education Committee.  

Dr. Hudak is a pediatric pulmonologist at Nemours Children’s Clinic in Jacksonville, Fla., where she often treats asthma and cystic fibrosis but not PH.  Yet her path to diagnosis parallels that of many other PH patients, particularly middle-age women.

Dr. Hudak had long been treated for scleroderma and Reynaud’s disease.  Her rheumatologist knew of the association between PH and scleroderma.  Dr. Hudak maintained a healthy weight, exercising regularly while practicing medicine and raising children.  In her 40s, exercising became more difficult, but with her busy life, she says she paid this little attention. Then while hiking in 2004, Dr. Hudak discovered that at altitude she could not walk uphill.  

In Jacksonville she underwent an echo, an EKG and a chest x-ray.  Her doctor called the results “maybe slightly abnormal.” He was reassured and attributed her symptoms to perimenopause and deconditioning.  He reported that the cardiologist had considered her echo normal. “They were happy with normal, and I was, too,” Dr. Hudak says. 

Still, Saturday morning tennis games left her tired all weekend.  Once, at a neighborhood party, she was chatting with a cardiologist friend.  He told her firmly, “anyone with scleroderma and shortness of breath with exercise has PH unless proven otherwise.”  Two weeks later she was diagnosed by right-heart catheterization and referred to a PH specialty center.

Dr. Hudak’s experience at Mayo Clinic in Jacksonville under the care of Charles Burger, MD, highlights the importance of referral to specialty centers, a key element of the Sometimes it’s PH campaign. In a single day she received comprehensive testing including a more detailed echo which successfully measured tricuspid regurgitation velocity. Those administering these tests pursued results doggedly.  

Dr. Burger also admitted Dr. Hudak to the hospital for a right-heart catheterization that included a vasodilator challenge. Without that thorough procedure and all of the necessary testing, Dr. Hudak’s vasoreactive type of PH would not have been discovered. Dr. Hudak has stayed on nifedipine as her sole PH treatment and has improved from Class III to Class I.  She has also participated in a clinical trial.

In her practice Dr. Hudak now looks for a few more zebras among the horses.  She also looks more carefully at the data used to interpret studies. She would advise other physicians to be more vigilant with a patient who has an underlying condition associated with PH and to work up minimal symptoms that may be due to PH. She also suggests further evaluation if existing results don’t make sense in the clinical setting. 

Dr. Hudak’s experience illustrates that both patients and professionals must be more active in questioning the data and the decisions that drive diagnosis.  Her unique insights will be an asset as PHA works to enhance primary and specialty care professionals’ ability to diagnose and treat PH promptly and correctly.

To find out more about Sometimes it’s PH, visit the SometimesItsPH.org website.