Vaping-related illness highlights the complexities of diagnosing rare conditions

When patients started showing up in doctors’ offices and emergency departments with coughs, shortness of breath, chest pain, nausea, vomiting, abdominal pain, diarrhea, fever, chills and weight loss, physicians’ first instincts were that the cause of these symptoms were common illnesses such as pneumonia or flu. But treatments that are usually highly effective for these diseases weren’t helping patients as expected. Many became seriously ill quite quickly and required care in the ICU and, in some cases, ventilation.

Physicians scrambled to figure out what was making these patients, mostly young men in their early 20s, so sick. They didn’t have other cases to compare what they were seeing to, which made diagnosis more difficult. In addition, patients were spread across the country, with cases occurring in 49 states, and many were being treated in community hospitals, so information about these unusual cases wasn’t being widely shared among physicians, further complicating the process of diagnosis.

As the number of cases increased, physicians discovered that all the patients had one behavior in common — they vaped nicotine, THC, or a combination of both. The CDC has reported nearly 1,500 cases of illness and 33 deaths related to vaping as of mid-October. To date, researchers have not definitively determined what compound or ingredient is causing vaping-related illness, and many suspect there may be more than one cause of the current cases.

Vaping-related illness is the latest example of how complex and difficult it can be to diagnose rare or new conditions. Like many rare diseases, these illnesses share symptoms with much more common conditions, so patients run a higher risk of being misdiagnosed and receiving treatment that is ineffective as their condition continues to deteriorate.

Another issue is a lack of awareness of rare conditions among physicians. There is frequently little information shared between physicians outside those who specialize in rare diseases, so it can take seven to 10 years for patients to receive a definitive diagnosis. And when patients have spent years going from doctor to doctor seeking an answer to what is causing their symptoms, they may face skepticism from physicians who suspect the root cause of the symptoms is psychological rather than physical.

So, what can patients do to help them get an accurate diagnosis in a timely fashion? These three strategies may help.

1. Patients and their families should be advocates and take an active role in their care. The keys to this advocacy are speaking frankly with your physician about what symptoms you experience, when these symptoms began, and how frequently they occur, what makes the symptoms more and less severe and what diagnoses other physicians have suggested as well as what treatments have been tried with or without success.

Patients also need to provide a complete family health history, and be honest with physicians about their lifestyle, sharing details about smoking, use of recreational drugs and alcohol, and sexual history.

The more detailed information the physician has, the better able he or she will be to get a complete understanding of the patient’s risk factors, which play a key role in the process of diagnosis.

2. When patients suspect they may have a rare condition or have not received a definitive diagnosis in a timely manner, a second opinion from an experienced specialist can be valuable.

Second opinions may provide access to additional diagnostic testing and new clinical research that can help lead to an accurate diagnosis and effective treatment plan.

3. Accurate, up-to-date medical records can also play an important role in the diagnosis of rare conditions. Patients who are eventually diagnosed with these conditions usually have large and complex medical records that contain information from many different health care providers and span many years.

Creating and maintaining a comprehensive medical record, whether it’s in an electronic or paper format, provides physicians with a complete overview of the patient’s history and the course of the condition, essential information for accurate diagnosis.