Challenges of diagnosis and treatment of CTEPH

In an interview with HCP LiveCandice Lee, MD, McGinnis Thoracic & Cardiovascular Associates, Allegheny General Hospital, discusses the challenges of chronic thromboembolic pulmonary hypertension (CTEPH) care and treatment options for patients diagnosed with this rare condition.

Lee, a cardiac surgeon, is an expert in pulmonary thromboendarterectomy (PTE) surgery, potentially the only treatment that can cure CTEPH.

Speaking specifically to CTEPH, could you describe the general manifestations of the conditions and how they are diagnosed?

I think the problem with CTEPH is that it can be present with really non-specific symptoms. Often it just presents with shortness of breath or feeling more than normal tired or not being able to do the same activity you could do before. And often it’s attributed to more common illnesses like asthma, COPD, or heart failure. This is therefore the reason why we can sometimes miss a diagnosis of CTEPH.

If diagnosed, who generally makes up the population?

It tends to occur most often in patients who have had blood clots because that is what it really is. It’s those blood clots that have completely dissolved, or maybe someone has had repetitive episodes of blood clots in the lungs. And this causes changes in the blood vessels of the lungs. The scarring and narrowing of these blood vessels over time can cause high blood pressure in the lungs.

Patients who often develop it are people who have risk factors for developing these blood clots, such as clotting problems, a history of cancer, or a history of splenectomy. It may tend to occur in women taking birth control pills. Being overweight and not doing much activity, and having blood clots that travel to the lungs or having indwelling catheters or pacemakers can also cause it. However, approximately 50% of patients, or half of the CTEPH patient population, have no history of blood clots.

What are the treatment options for CTEPH?

When CTEPH is diagnosed, the first thing we want to do is simply determine whether or not he is a candidate for surgery. There is a specific treatment called PTE surgery, which is an open heart surgery where we clean out the blood clots, and it is the only treatment that can actually cure CTEPH. In patients with CTEPH, we are still evaluating whether they are candidates for this.

If they are not candidates for open heart surgery, they may have other significant health conditions that make them unsuitable, or the nature of their illness, such as blood clots, and changes in the lungs are simply too remote for us to adequately get through surgery the other options are medical therapy. And then also, we have a less invasive procedure where we use balloons and catheters to open up some of the smaller blood vessels in the lungs. So those are also two options.

Specifically with PTE, how often is it done versus not?

PTE is still quite rare. We estimate and again this is likely an underestimate simply due to the difficulty in diagnosing CTEPH. But, we estimate that there are probably about 10,000 to 15,000 cases of CTEPH per year in the United States, but there are only about 250 to 300 cases of PTE in the United States, and that’s is in less than 20 centers across the country. Thus, many patients do not benefit from a procedure that they could potentially obtain.

What does the schedule look like for a patient?

As I said, the most important thing is the diagnosis. Often, patients with CTEPH can take up to two years to arrive at a diagnosis. Once they are diagnosed with CTEPH, they should be referred to a CTEPH center that can offer surgery and other options. Once they come to our center for an assessment, we try to get our patients through fairly quickly. Come up with the diagnosis, do any other additional testing that needs to be done in order to determine if they are candidates for surgery and this may happen in a few weeks to a few months.

Is there anything else you think is important to mention?

CTEPH is a rare disease, but it may be more common than we really appreciate. And it has significant associated mortality, or risk of death if we don’t treat it appropriately. We just want to get the message across that this is a disease process that can be treated. Patients can continue to live a good life and a good quality of life. What we offer here at Allegheny General and Allegheny Health Network is access to heart and lung failure specialists, some of these more advanced treatment options, and then holistic, comprehensive management of the patient.