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!

Together We Can "Color the World Periwinkle"

As we prepare for Awareness Month this November, Diane Greenhalgh, PHA's Director of Web Services has written this week's guest blog. She makes the important point that PHA's Internet connections, while an important social benefit, are also a tool for increasing awareness and fighting back against PH. Awareness Month is coming and you are essential to its success.

When I started at PHA in 2006, Rino talked a lot about how important our online communities are for ending the isolation that patients and families feel. With social media and other online community tools, the PH community across the world is coming together and forming lasting PHriendships online even though they have never met in person. My roommate and best friend Alex, who is a PH patient, has only ever met some of her closest friends in person at PHA's biennial conferences.

Now that we have this global network, let's take it out for a spin and see what it can do! In exactly one month from today we are asking the entire PH community to unite with your PHriends from across the globe as one voice to kick off PH Awareness Month with Color the World Periwinkle Day on Nov. 1.

This starts with the very simple act of wearing periwinkle, or purple, on Nov. 1 along with your PH gear. Advertise about Color the World Periwinkle Day beforehand to everyone you know so they do the same.

From there you can do a number of things to color your world periwinkle. You can create a personal story page so people can understand what it is like to live with PH and have a way to support you, organize a small PH-themed event like a happy hour or party, and spread awareness to your online networks.

Regardless of how you decide to celebrate Color the World Periwinkle Day we have the tools you need to guide you through the process and staff to support you, whatever idea you come up with.

Check out our Color the World Periwinkle Day resources, and don't forget to check out the other ways you can raise awareness throughout PH Awareness Month and beyond.

As individuals we can make a difference. Together we can change the future of this disease. PHers unite!