For 20 years, Frances Muller’s rheumatoid arthritis (RA) was misdiagnosed.

A neurologist told her that the pain in her hands was carpal tunnel syndrome. An internist told her that the all-over aches that struck about four times a year were the flu. An orthopaedic surgeon told her she had bursitis in both shoulders.

“None of my symptoms made any sense,” and none of the treatments helped, says Muller, who lives in Scottsdale, Ariz.

An orthopaedic surgeon who ordered an X-ray of her pelvis finally figured it out – after 13 previous doctors did not. He said there was no way she could have so much damage to her hips and not have RA.

Misdiagnosis is one of the most common medical errors, occurring about 15 percent of the time, according to autopsy studies. And it can have dire consequences, leading to unnecessary or delayed treatments and physical and emotional suffering.

In rheumatology, where symptoms and diseases frequently overlap, experts stress that even scrupulous, experienced and well-intentioned physicians can miss important clues, and they encourage patients to be vigilant, savvy partners in their own care.

“For many rheumatic diseases, there’s no gold standard [for diagnosis],” says Don L. Goldenberg, MD, chief of rheumatology at Newton-Wellesley Hospital in Massachusetts. “You don’t biopsy it. There aren’t a lot of laboratory tests. That’s where the art of medicine comes in, more than the science.

“If patients are concerned, they have the right [to], and certainly should, get a second opinion,” Dr. Goldenberg adds.

To help you decide when it’s time to push for more answers or to seek a second opinion, here are seven red flags that your doctor may have arrived at the wrong conclusion about your condition.

1) Your diagnosis is based exclusively on the results of a blood test.
In rheumatology, many diagnoses are supported by blood tests to check for various kinds of antibodies – proteins the immune system makes when it is mounting an attack and other markers for inflammation. But experts agree that blood-test results shouldn’t be the sole basis for a diagnosis.

In Muller’s case, for example, over the years, more than one doctor suspected RA and ordered blood tests to look for tell-tale rheumatoid factor and anti-CCP antibodies that sometimes signal the disease. But the tests all came back negative – as they do in up to 30 percent of people with RA.

Conversely, blood tests may be positive when no disease is present.

“I’d say that I see patients on a weekly basis who come to me and say, ‘I have lupus,’ because they tested positive for ANA,” says Robert Shaw, MD, a rheumatologist at the Carroll County Arthritis and Osteoporosis Center in Westminster, Md., referring to the test for anti-nuclear antibodies, which can indicate that the body is launching an immune attack on itself.

Antinuclear antibodies can show up for a number of reasons, not just lupus. Sometimes they can be associated with chronic infections, like sinusitis, and somewhere between 3 percent to 15 percent of healthy individuals carry ANAs with no ill effects.

Don’t hesitate to ask your doctor to detail the information on which a diagnosis is based. If he or she is mainly relying on test results, ask if there might be other options to consider. Don’t hesitate to ask for a second opinion – many doctors are open to collaboration with other physicians and medical professionals to help their patients.

2) Your doctor has prescribed a treatment, but it isn’t working.

Trial and error is often a necessary part of unmasking an illness, but always let your doctor know if a drug or therapy is not helping. “A very important diagnostic test is whether somebody responds to treatment the way you think they should,” says Gordon D. Schiff, MD, who researches patient safety at Brigham and Women’s Hospital in Boston.

However, if a treatment is not working, that doesn’t mean the diagnosis is wrong. While an antibiotic can usually clear up a bacterial infection, a given RA drug may work for some but not others. And frustratingly, disease-modifying anti-rheumatic drugs, which are the mainstays of treatment for inflammatory forms of arthritis, can take weeks or even months to start working.

“Just because you make the right diagnosis, doesn’t mean everybody responds,” Dr. Goldenberg cautions. “And some people’s pain may be multifactorial.”

Two diseases, osteoarthritis (OA) and RA, for example, may be at work, with each needing a different treatment.

This is where communication with your doctor is key. Before you start on any new treatment, ask what to expect and establish a time frame for seeing results.

If you aren’t getting better as quickly as you should, that’s the time to go back to your doctor for a medication adjustment, or if you feel the diagnosis just isn’t a good fit, it may be time to make an appointment for a second opinion.

3) You were diagnosed by a physician working outside his or her specialty.

For many people, the first doctor they see when they get sick is a family practice physician. Family practice doctors, by necessity and training, have to know how to spot the most common symptoms of many different diseases. But if you have a complicated case, it may be not be easy for such a generalist to reach the right diagnosis.

In one 2003 study, for example, researchers at McGill University in Montreal, Quebec, followed all new patients referred to the university’s rheumatology clinic. Seventy-six patients were told by their primary care physicians that they probably had fibromyalgia. Rheumatologists subsequently determined that only about one-third of those patients actually met the diagnostic criteria for the condition. About two-thirds of those patients had another rheumatic disease that accounted for their symptoms.

“There are millions and millions of people who have chronic pain where doctors have trouble figuring out what that chronic pain is due to,” says Dr. Goldenberg. “And in that situation, the rheumatologist probably would be helpful early on in figuring out the problem.”

Even if a primary care physician has correctly diagnosed your condition, you may get added benefits from having a rheumatologist on your team. Research has shown that early, aggressive treatment of inflammatory forms of arthritis, like rheumatoid or psoriatic arthritis, can prevent permanent disability. Rheumatologists are specialists in the treatments and complications of diseases that affect the muscles and joints, and they can make sure you’re being treated appropriately.

4) A lab test is needed to make a definitive diagnosis, but your doctor never ordered it for you.

While a diagnosis should never be based exclusively on test results, there are some conditions that can’t be positively identified without specific tests.

“If your doctor told you that you had gout, for example, but he failed to draw fluid from the joint to check for uric acid crystals, then you might not have gout,” Dr. Schiff says.

Other diseases mimic gout, including bursitis, OA, and pseudogout, which is caused by deposits of calcium, rather than uric acid crystals, and they require different treatments.

How are you, the patient, supposed to know when a test is required? This is where preparation and education can pay off. Check reputable sources of information, including the Centers for Disease Control and Prevention, the National Institute of Arthritis, Musculoskeletal and Skin Diseases, the Arthritis Foundation and Arthritis Today. Find out what tests are typically ordered to aid your doctor in a diagnosis of your condition, and check with your doctor to see if you need them.

5) Your symptoms don’t match your diagnosis.

Many doctors are so busy that it’s easy for them to fall into the bad habit of listening to one or two of a patient’s complaints before they start down a diagnostic path, and the result may be a conclusion that doesn’t quite fit.

Dr. Goldenberg says he sees many patients who have run into this problem.
 

“An example would be a patient who comes in at age 55, having had pain for a year all over her body, and the doctor doesn’t see too much [on X-rays and in blood tests] and says, well, it’s just your arthritis,” says Dr. Goldenberg, who specializes in the treatment of fibromyalgia.

“Because a person just has some typical osteoarthritis that you get over age 50, but in fact, osteoarthritis doesn’t cause people to say that I hurt all over my body all the time,” he adds.

Additionally, in medical school, many doctors are taught the maxim, “When you hear hoofbeats, think horses, not zebras.” In other words, go with the simplest, most common medical explanation rather than attributing symptoms to a rarer condition.

A patient who comes in with all-over aches in January is more likely to have the flu than lupus, but that won’t always be the case. And if you’re a medical zebra, but your doctor is used to looking for horses, you may be misdiagnosed.

Here, again, is where preparation can pay off. As soon as your doctor gives you a diagnosis, hit the library and the Internet. Check reliable references to find out what symptoms are typical for the condition you’ve been told that you have.

6) You didn’t get a physical exam.

Fewer doctors are performing regular physical exams on their patients, where they watch, listen to, touch and manipulate a patient’s body looking for clues that something is amiss, and the lack of such information can lead to mistakes.

When a rheumatologist touches your knuckles, for example, joints that are red, swollen, hot and soft may point to an inflammatory form of arthritis, like RA; while joints that are cool and hard on physical exam may be more indicative of OA.

Ghaith Mitri, MD, chief of the Division of Rheumatology and Immunology at the University of Florida College of Medicine in Jacksonville, says he recently treated a man in his 40s who had been diagnosed by multiple doctors with a variety of conditions. One physician finally lumped the man’s perplexing symptoms into a diagnosis of dermatomyositis, an autoimmune disease that causes extreme muscle weakness and a skin rash.

Dr. Mitri had doubts. He had asked the patient, who was a brawny guy, to hold his arms out while he tried to push them down. “I could almost climb on top of [his arms,] he was so strong,” Dr. Mitri says.

Because the patient was moving and speaking unusually slowly, however, Dr. Mitri ordered a blood test to check his patient’s thyroid, a gland that controls how the body uses energy. The result: very low thyroid function.

After a few months of taking synthetic thyroid hormone, the patient returned to normal health.

7) Your doctor didn’t ask enough questions about you.

In his study, Dr. Schiff found this kind of misstep, called a history taking error, about 10 percent of the time.

These kinds of questions are important because they can open up diagnostic possibilities that the doctor may not have considered. A thorough family history, for example, can reveal genetic predispositions to disease. Other questions, like where you’ve lived or the kind of work you do, may be critically important to your diagnosis.

For example, in May 2009, the Food and Drug Administration warned doctors that histoplasmosis and other invasive fungal infections were not consistently being recognized in patients taking TNF-alpha blocking drugs.

Histoplasmosis is caused by an organism that can lie dormant in the body harmlessly for years, but the infection may flare up if the immune system is weakened by medication or illness. The fungus that causes histoplasmosis lives in the soil, typically in areas around the Ohio River Valley. If you have lived in that area, or worked in the soil, and you take a TNF-alpha blocker, your doctor needs to know.

Likewise, people with particular jobs face a higher-than-average risk of repetitive strain syndromes, such as carpal tunnel or low back pain. A habit of gum chewing can increase the risk of problems in the temporomandibular joint, the hinge of the jaw.

Putting the Puzzle Together

For many people, the problem of misdiagnosis is resolved relatively quickly, with no lasting impact.

But Muller says years passed and her pain never went away, despite multiple explanations proffered by doctors.

Finally, the moment came when her hips would no longer move. She bent over to pull on her pantyhose and couldn’t get back up.

When her new orthopaedic surgeon looked at the X-ray of her pelvis, he found that the round head of her hip joint was sunken and squashed, like an orange that had rotted and collapsed.

Despite the grim news that RA had ravaged her joint, Muller felt relieved. “I actually cried tears of happiness because I could point to the darn X-rays and say, I am not making this up. You could see there was something wrong,” she remembers.

And now, when she hears about other patients who are suffering without answers, she has this advice.

“Medicine is an art and not a science and unfortunately most doctors rely way too much on the tests. Try to find a doctor that just sits and listens to you,” she says. “When a doctor stops listening to you, you need to go to another doctor.”