What to do when a diagnosis is elusive

Nearly every week, primary care physician Dr. Daniel Sands examines a patient whose vague but troubling symptoms — such as fatigue, headaches, dizziness, or body aches — don't readily point toward a specific condition.

Even after a series of tests, a clear diagnosis remains elusive in a striking number of such cases. "Broadly speaking, this happens quite often," says Dr. Sands, who's based at Harvard-affiliated Beth Israel Deaconess Medical Center. "I'll see a patient whose symptoms don't fit any diagnosis or framework."

Such symptoms can affect any part of the body and range from wax-and-wane issues to severe, persistent ailments that stop people from working and living normally. The physical and psychological fallout can be immense, says Dr. Arthur Barsky, a psychiatrist at Harvard-affiliated Brigham and ­Women's Hospital.

"People get anxious about the situation," he says. "Their body isn't functioning properly, but there's not a structural problem we can diagnose with a scan or biopsy."

Difficult to measure

Medically unexplained symptoms are often ambiguous and typically fall into a few categories, Harvard experts say. In addition to the reported fatigue, headaches, dizziness, and body aches, these might include palpitations, constipation, or pain in the back, joints, or belly. "These are all things we don't have good biomarkers or metrics for," Dr. Sands says.

Although a thorough physical exam is crucial, careful listening is usually the first step toward solving a diagnostic riddle, since in about 90% of cases, the patient's medical history offers major clues to a diagnosis, says Dr. Soheyla Gharib, chief medical officer of Harvard University Health Services.

"My approach is to first get the full story," says Dr. Sands. "If we ask the right questions and listen actively, it sets us up to do the appropriate diagnostic testing or to refer to an appropriate specialist."

Testing, he says, might include blood work or imaging. However, he adds, "it's not a good idea to order lots of tests willy-nilly, which could lead us down the wrong path."

Patience and persistence

It can be immensely frustrating to struggle with symptoms that negatively impact your quality of life. However, Dr. Sands and Dr. Gharib advocate a counterintuitive response: patience. Sometimes symptoms resolve on their own without ever being fully understood. This watch-and-wait approach can help you avoid unnecessary and often unpleasant or unhelpful testing.

"Symptoms may also evolve and become more diagnosable over time. But we need to apply this approach judiciously, after we're sure nothing dangerous is happening," says Dr. Sands. That's especially true for people over 50 and those with known health issues.

Struggling with medically unexplained symptoms can also strain patients' emotional and financial lives, Harvard experts say. Copays and other costs mount and home life can become fraught as well, as family members and friends often tell patients their symptoms must be "in their heads." "The implication is that you're either faking it or imagining it," Dr. Barsky says.

Moving forward

If you're dealing with unexplained symptoms, Dr. Gharib and Dr. Sands first recommend working with a trusted primary care doctor, who can coordinate ongoing efforts to reveal a cause. Your doctor should also address any depression or anxiety symptoms, not only as a potential contributor to physical symptoms but as an accompanying health issue. "Your doctor is your navigator," Dr. Gharib says.

Beyond that, Harvard experts offer this guidance:

Ask if you need a referral. Your primary care doctor can point you toward an appropriate specialist or help you seek a second opinion, though some situations may benefit from a range of specialists.

Look for specialized programs. Academic medical centers or dedicated symptom clinics can provide unusual expertise. (See "Network of research centers targets diagnostic puzzles.") "If one isn't available in your city, it may be worth traveling elsewhere to have other doctors take a look at you," Dr. Sands says. This may be particularly helpful if your symptoms persist over a long period.

Keep moving. Exercise can often quell non-specific symptoms such as feeling blah or lack of energy. Regular physical activity can help mood, and in some cases, help stave off fatigue.

Try to find joy where you can. If you can, make time for simple pleasures that lift you up — listening to music you enjoy, reading, or tending to plants or a garden.

Seek therapy. Cognitive behavioral therapy can help you learn which stressors seem to worsen your symptoms and figure out different ways to respond. "Pay attention to what's happening in your environment when you notice symptoms," Dr. Barsky says, "and work on those stressors directly."

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