Being short of breath, especially on exertion, is a common symptom. Real causes are often missed. Shortness of breath causes can be hard to find. Leading lung disease expert explains diagnostic and treatment options. Shortness of breath is the main symptom. Becoming short of breath is a common symptom. Shortness of breath has many causes. One of those causes could be pulmonary arterial hypertension. Dr. Aaron Waxman, MD. It is a relatively rare situation. But pulmonary arterial hypertension is a very important disease. How to find causes of shortness of breath? Dr. Anton Titov, MD. That is an important fundamental question. Because so many people complain of shortness of breath. These patients are often given a diagnosis without a lot of evaluation. Also we want to discover patients with pulmonary hypertension earlier in their disease course. Dr. Aaron Waxman, MD. About seven years ago now we set up a Dyspnea Evaluation Program. We learned quickly several important facts about causes of shortness of breath. Shortness of breath as a complaint is probably second only to pain. Dr. Aaron Waxman, MD. Patients very often complain that they are short of great when they go to their doctors. Sometimes they go to their primary care physician. Or patients go to a cardiologist or a pulmonologist. Those are the three kinds of doctors that patients with shortness of breath visit. We then learned very quickly that doctors quickly assign a convenient diagnosis to a patient with shortness of breath. It is often based on age of patient. Dr. Aaron Waxman, MD. Young patients are often told that they have asthma. By young I mean patients less than 55 years of age. they are told: ”Oh, it is asthma". Then without any diagnostic tests patients are given inhalers. Doctors then send them home. Often, those inhalers don't work. Because patients with shortness of breath don't have asthma. But still patients are treated incorrectly, on the assumption that they had asthma. There are patients older than 55 and who have shortness of breath. Dr. Aaron Waxman, MD. They were often told that they had either COPD or heart failure. COPD is Chronic Obstructive Pulmonary Disease. All three of those diseases are very easy to diagnose and rule out. Asthma, chronic obstructive pulmonary disease and heart failure are very easy to confirm or deny. Many of patients with shortness of breath do not have those three diseases. We meet a patient with unexplained dyspnea [shortness of breath] or unexplained exertional intolerance. Dr. Aaron Waxman, MD. We found that we only need three tests to put patients into the correct diagnostic category. They should have pulmonary function testing. The results of pulmonary function tests could be normal. Or they don't explain patient's shortness of breath. Then a patient should have an echocardiogram. This could also suggest a diagnosis and explain why a patient is breathless. Cardiac ultrasound perhaps also doesn't explain patient’s breathlessness or if it is normal. Dr. Aaron Waxman, MD. Then some sort of chest imaging is required. It is a chest radiograph or a chest CT scan. Most patients with shortness of breath aren't symptomatic at rest. Doctors cannot expect these diagnostic tests to explain why someone is short of breath. Dr. Aaron Waxman, MD. Because shortness of breath only happens during physical exercise. It is not an obvious problem. So it is asking a lot of the diagnostic tests. We developed a diagnostic program here for patients with breathlessness. Dr. Aaron Waxman, MD. Our diagnostic program is based on invasive cardiopulmonary exercise testing. We put into a right heart a catheter. We specifically use a Paceport Swan-Ganz catheter. We can measure pressures in the right atrium, right ventricle, and pulmonary artery. We wedge that catheter every minute during the exercise stress test. Dr. Aaron Waxman, MD. We can get a left atrial pressure. Then we also put in a radial artery catheter to measure arterial pressure. We can then sample blood from both of these catheters. Then a patient does a full cardiopulmonary exercise test. It is an incremental load test. So we start out at rest. Then a patient will do about two minutes of unloaded cycling. Then a patient will do a ramp protocol depending on the patient's abilities to peak exercise. Then we will also collect data on the recovery phase after exercise stress test. Usually one hour later we will get one last set of blood samples. Every minute of this diagnostic test we are capturing the waveforms off the catheters. We are sampling the catheters. We are measuring gas exchange continuously. Dr. Aaron Waxman, MD. We truly have access to Fick principle physiology. This is how we establish a correct diagnosis for patients with shortness of breath. We are able to tell the patient why they are short of breath. Our diagnosis is purely based on physiologic readout of objective diagnostic data. Generally we can narrow a correct diagnosis down to about five or six diagnoses. We didn't expect to encounter these diagnoses when we first started doing this diagnostic testing. Dr. Aaron Waxman, MD. We certainly find early forms of pulmonary arterial hypertension with this testing. We have shown in a recent publication an interesting treatment fact. We could treat a patient at an early phase of pulmonary arterial hypertension. Then we could reverse the pulmonary arterial hypertension. We could eliminate the progression of the abnormal hemodynamics. We see early forms of heart failure with preserved ejection fraction. This is another form of pulmonary hypertension. Dr. Aaron Waxman, MD. We also see a significant number of patients who have dysautonomia. It is also called autonomic dysfunction. That turns out to be most times an autoimmune process and a small fiber polyneuropathy. Those patients we are treating as an autoimmune disease. We also patients with dysautonomia symptomatically with medications. We can use pyridostigmine or Florinef, or midodrine. Then we also find neuromuscular disease. Dr. Aaron Waxman, MD. We also find metabolic disease. We didn't learn about these diagnoses when we were trainees in pulmonology or cardiology. Why patients might be short of breath? Dr. Anton Titov, MD. Correct diagnosis is complicated process. It requires thinking beyond individual medical subspecialties. That is the hard part about diagnosing a patient who has shortness of breath. Dr. Aaron Waxman, MD. People get narrowly focused on their own specialty and miss the other causes of breathlessness. This is a very important point. Because, obviously, shortness of breath is such a common symptom. It is important to investigate shortness of breath thoroughly. It is important to keep an open mind about diagnosis. A physician should not silo somebody into a common diagnosis, but incorrect diagnosis. Dr. Aaron Waxman, MD. Patients often receive a diagnosis that might have nothing to do with the physiology and the causes of the particular patient's shortness of breath. This is the biggest problem that we have in a lot of aspects of medicine. It is how we have siloed our specialties. Here is a unique feature of our pulmonary vascular program and our dyspnea program. Dr. Aaron Waxman, MD. We are a group of clinicians that includes pulmonologist, cardiologists, rheumatologists, and radiologists. But we cross boundaries of our specialties. We even have surgeons who are part of our clinical group. It allows us to think much more broadly and open-mindedly. It also gives us lots of questions that we can then address from a research standpoint. This is the theme that I clearly hear from many medical experts. A multidisciplinary approach to diagnosis. This is crucial for finding the best treatment for any disease. Yes. It is the only way forward in medicine. Dr. Aaron Waxman, MD. A patient might have experienced certain symptoms. Some physicians then tell this patient. "Oh, you have this or you have that diagnosis.” It may be worthwhile to investigate the symptoms in more detail. It’s crucial to find the right expert. An expert who will dig into the real causes of patient’s symptoms. It is not easy to make a correct diagnosis. But nevertheless it is worthwhile for the patient. We went back and looked at our patient population. Dr. Aaron Waxman, MD. We probably see on the order of two or three hundred new patients every year with unexplained shortness of breath. We are following well over a 1,000 patients at this point. We learned that the average time to diagnosis for the patients with shortness of breath is about two years. This is the patients we have seen. Time period to diagnosis means from the time patients started to complain of breathlessness to the time they got to our evaluation. These patients have been complaining of shortness of breath for at least two years. Over those two years many times people have spent upwards of $100,000 to $150,000 on diagnostic testing. Dr. Aaron Waxman, MD. Physicians were repeating diagnostic tests over and over again. Because physicians want to do something for the patient. If a physician can not treat something, they are often going to order a diagnostic test. Even though that diagnostic test has been done before. Even if it hasn't shown an answer. It is what the physicians are comfortable with. Dr. Aaron Waxman, MD. They are comfortable with repeating the same diagnostic tests again and again. A lot of money is spent. A lot of time is wasted in getting these patients a correct diagnosis. Patients could have used the modern technology to get the correct diagnosis. Patients could receive a remote expert medical opinion. Dr. Aaron Waxman, MD. They could send the medical information to the correct expert in shortness of breath diagnosis. patients with shortness of breath should try to find correct medical expert to find a cause of their symptoms. It could have saved both time and money. Getting the right diagnosis means receiving appropriate treatment for shortness of breath, at the right time. Dr. Aaron Waxman, MD. Correct! That is the key. For us, by the time a patient knocks at our door, we can usually give that patient a correct diagnosis. Only because the scheduling issues could be a problem. We are booked out for patient appointments months in advance now. Within 6 weeks we can usually give a correct diagnosis to any patient with shortness of breath. For every diagnosis we find, we do have a treatment protocol. Dr. Aaron Waxman, MD. Effective treatments are evolving as time goes on. We have learned a lot about these diagnoses. We are thinking about treatment for shortness of breath on a physiologic basis. It allows us to be flexible and to tailor therapy to that patient. It pays to get to the correct experts! Everything is about finding the right person.