Bringing Attention to Illnesses That Have No Name
Chronic diseases with unclear diagnoses are a major frustration for clinicians and patients alike. To address the complexities of these conditions and find ways to better address them, an essential step is to build consensus acknowledging the importance of this issue and finding better ways to deal with it.
This week, my colleagues Medha Barbhaiya, Peggy Crow and I are hosting a conference to address the topic of diagnostic uncertainty. Titled “When the Illness Has No Name,” it is being hosted by the Barbara Volcker Center for Women and Rheumatic Diseases at the Hospital for Special Surgery (HSS). We anticipate this gathering of leaders will be the first step toward building a foundation of knowledge, and hope that it will ultimately lead to real change in how these ailments are perceived and treated.
Although it’s rarely discussed, diagnostic uncertainty is a very real concern. It affects not only patient care, but medical research, healthcare utilization and reimbursement and medical policy. And it’s extremely common. In fact, in the autoimmune practice at the HSS, 40% of patients have a condition with an unclear diagnosis.
For rheumatologic diseases like lupus and scleroderma, one of the drivers of diagnostic uncertainty is the rigid qualifications used to define each of these diseases. When you have criteria that exclude almost half of your patients, it’s a strong sign that these definitions are not working.
This problem goes beyond rheumatologic disease and includes other conditions that frequently have an autoimmunity component, such as multiple sclerosis and inflammatory bowel disease. It also encompasses what we often think of as chronic fatigue syndrome and related conditions, especially in patients who have no known history of a previous infection like Lyme disease. We are now seeing these kinds of symptoms in COVID-19 long-haulers.
The lack of a definitive diagnosis for patients often affects our ability to properly care for them. It limits the medications that we can give them, the tests we can offer and what insurance will cover. It also limits patients’ opportunities to participate in research studies, which in turn constrains the work of scientists who are focused on developing new treatments.
One major issue we need to address is that current criteria don’t allow for the notion of pre-disease — patients who may meet some but not all of the benchmarks for a rheumatic disease because they are in an early stage. But to develop new approaches for diagnosis, prevention and early intervention, it’s vital to have measures for identifying these patients.
Lacking a clear diagnosis can be psychologically challenging for patients. They may be dismissed as being complainers or having problems that are “all in their heads.” Their health problems may not be taken seriously by family, friends and employers. But we can’t keep ignoring this group of patients. We owe it to them to address this topic. To do this, a number of stakeholders need to be involved, including practicing physicians, clinical and basic scientists, government regulators, the insurance and pharmaceutical industries, the media and patient advocacy groups.
We often call these diseases idiopathic because they have no known cause. But we know they actually do have causes, and without more research those causes cannot be found. We need to accept the fact that uncertainty and ambiguity are part of our world, in part by finding ways to better measure and identify uncertainty. The rules must be changed for the benefit of the millions of patients living with these chronic but undiagnosed illnesses.