I Was Misdiagnosed With PAH



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“What happens if I am incorrectly diagnosed and treated as though I have PAH and it turns out that I don’t have PAH?”

For many years our biggest concern was that physicians would not consider the diagnosis of PAH and miss it altogether. In the past five years we have seen the pendulum swing the other direction. Now, more often than not, I see patients who are incorrectly diagnosed as having PAH when in fact they have another diagnosis. The most common correct diagnosis under these circumstances is Diastolic Heart Failure (also referred to as heart failure with preserved ejection fraction or HFPEF). In other instances the patients may have pulmonary hypertension related to under appreciated lung disease, or not even have pulmonary hypertension at all.

What happens when a patient is incorrectly diagnosed as having PAH and started on therapy with medications for PAH?

One of several things can happen.

1.  The worst-case scenario is that the patient may actually get worse. This is most common when patients with Diastolic Heart Failure are treated with the ERA class of medications such as Ambrisentan (Letairis), Bosentan (Tracleer), or Macitentan (Opsumit). These medications may worsen heart failure symptoms by increasing fluid retention. Furthermore, several ERAs have been formally studied in heart failure and were shown to worsen outcomes. The good news is that when the correct diagnosis is made and the wrong medications are stopped, the patient feels better and there is no data suggesting that lasting damage has been done to the patient. However, your insurance has paid a pretty penny for an unnecessary medication and you may be out your copay.

2  In some cases, the medication that is being used may actually make the patient feel better, despite the fact that the diagnosis is incorrect. An example of this might be if a patient with advanced pulmonary fibrosis (severe scarring of the lungs) is treated with a PDE 5 inhibitor Sildenafil (Revatio) or Tadalafil (Adcirca). There have been a few studies that have not shown improvement in exercise capacity but many patients do feel better. The exact role of PDE 5 inhibitors in IPF is yet to be fully elucidated.

3.   A third scenario is that the medication being used is neither harmful nor helpful. This is not without ill effects.   Specifically, the cost to the system is outrageous for pulmonary arterial hypertension medications. For example, there have been several very well conducted research studies of the ERA medications in IPF. All have shown absolutely no benefit. (One study suggested worse outcomes). These medications cost about $90,000 per year. Someone is actually paying this amount. Even if you have insurance, this waste of money spent on an unnecessary drug eventually just raises everyone’s insurance premiums. If the patient being treated has Medicare or Medicaid then all the taxpayers are footing the bill.

 How can you be sure that you have PAH?

The first step is making sure that you have had a right heart catheterization prior to starting therapy. Regardless of how good your doctors says he or she is, without a right heart catheterization no one can make the diagnosis of pulmonary arterial hypertension. Second, ask your doctor how many patients with PAH they manage. If you are able to see a nationally recognized expert then take the time and see one. Third, educate yourself. If you are 65 years old and overweight and have diabetes and sleep apnea then chances are much better that you have diastolic heart failure and not PAH. Similarly if you have severe lung disease then be skeptical of the diagnosis of PAH.

Not only is it costly and potentially harmful to be incorrectly diagnosed, but by definition then you are not being treated for the correct diagnosis. Don’t be shy. Keep track of your test results. Ask questions. Be an advocate for yourself. And don’t be afraid to seek a second opinion.

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