By Ivan Oransky, Globe Correspondent, 9/18/2001
Anthony Leahy of Coventry, R.I., knew something was wrong about five years ago. He was having trouble lifting his right leg, and some of the muscles in his stomach felt weak. His local doctor thought he'd had a stroke, but an MRI of his brain showed no abnormalities.
Then, the real anxieties began. An orthopedic surgeon told Leahy he might have multiple sclerosis, based on suspicious lesions on parts of his spine and neck. For a year, as Leahy showed more MS-like symptoms, such as fatigue and frequent tripping, a neurologist tried in vain to confirm the diagnosis. Though tests were inconclusive, the neurologist agreed that Leahy probably had MS.
That's the trouble with MS: It's an incurable, progressive disease for which there's no definitive test, leaving thousands to wonder whether or not they've got it. One of the world's leading authorities on MS, Dr. Charles Poser of Beth Israel Deaconess Medical Center, said he believes that up to 35 percent of the 250,000 to 350,000 people in the US estimated to have MS actually have something else, including migraine headaches and inflammation of the brain.
Beyond the anxiety of living with a debilitating disease, patients wrongly diagnosed with MS don't get treatment for the actual problem. Steven R. Sookikian, spokesman for the Central New England Chapter of the Multiple Sclerosis Society, said he knows a woman who was diagnosed with MS for several years before doctors realized she had lupus. Though MS and lupus are both diseases in which the body attacks itself, MS attacks the nervous system while lupus attacks the organs, and their treatments are quite different.
There is sharp disagreement among MS specialists, however, about the number of mistaken diagnoses. As magnetic resonance imaging technology has improved, allowing a more detailed look at damage to the brain and spine, some doctors believe the error rate is declining. They say the rate of mistaken diagnosis - either saying the patient has MS when he doesn't or vice versa - is no more than 10 percent, which is typical for a complex disease.
In Leahy's case, Poser said he didn't believe that Leahy's seeming clumsiness and spinal lesions - often, an indication that MS is destroying the coating of nerve fibers - added up to a diagnosis of MS. He told Leahy that he had a neurological condition of some type, but Poser assured Leahy that a foot brace and regular swimming would help him recover.
Poser now says he believes Leahy has disseminated encephalomyelitis, an inflammation of the brain and spinal cord that often occurs after a serious viral infection. The disease would normally be treated with the same steroids used in MS, but not other MS drugs now available.
Critics of the 77-year-old Poser say he has overstated the number of mistaken MS diagnoses, and that his attacks on the reliability of MRIs are outdated. But few can match his credentials in detecting it. In 1983, he wrote guidelines for diagnosing the disease, and he has been flown to Chile, Israel, Russia, and around the United States to offer second opinions.
He bases the 35 percent error rate on a review of 366 patients, including Leahy, that he saw for second opinions after diagnoses of MS over the years and described in 1997 in the Lancet, the British medical journal.
The neurologist found that 130 of those patients had something other than MS. Some had chronic-fatigue syndrome, others had post-traumatic stress disorder, and still others had migraines or encephalomyelitis. In other studies, Lyme disease has occasionally been mistaken for MS. Even conservatively estimating the number of misdiagnosed cases, Poser said, a quarter of patients diagnosed with MS don't actually have it.
But Leahy is not convinced he has encephalomyelitis, and he said several neurologists have confirmed his diagnosis of MS. ''I'm stiff as a board, and I'm losing strength in my right side,'' he said, ''and now some on my left side, in my toes.''
And he's frustrated by what he said was the wasted time before his MS diagnosis was made.
''I'm not a general in the Army or anything, but I have a head for logic,'' he said. ''You can't tell someone that you don't have anything. The diagnosis [of MS] doesn't really faze me. This is something you can live with, not comfortably, but you can live with it.''
The uncertainty surrounding MS mirrors the problems doctors face with other complex diseases, such as Lyme disease, where patients are clamoring for a clear diagnosis even though the doctor himself may be unsure. Dr. Allen Steere, chief of rheumatology at the New England Medical Center who first identified the tick-borne disease in the 1970s, now believes many of those diagnosed with Lyme disease don't actually have it. Definitive diagnosis of Lyme is difficult since patients generally don't seek treatment until long after any sign of a deer-tick bite is gone. Dr. Steere's position is now widely accepted by the medical establishment, however, to the point that at least one doctor who treats Lyme disease aggressively has been investigated by state officials in New York.
In addition to the personal toll on patients of misdiagnosis, the treatments are costly as well. Drugs recently made available to treat MS cost up to $12,000 a year. Just one of the drugs Leahy takes, Beta-Seron, costs $989 a month. Leahy, now retired from the heating and air-conditioning business, also received five doses of chemotherapy, which cost $600 each. And, although Leahy has no real side effects, he calls himself lucky because a neighbor with MS can't tolerate the side effects of Beta-Seron, which can include severe reactions at the site of injection and depression.
And, because the drugs don't always work, it's hard for doctors to be sure of their MS diagnosis even based on how the patient responds to treatment.
''It's the best they know of at this point, but I feel like I'm getting a little bit worse,'' said Leahy, who now can only wear flat-bottomed shoes. He has trouble lifting his right foot, which hurts more and more as the day goes on.
Leahy's current Rhode Island doctor said he should keep taking the medications because MRIs show that the drugs have prevented the MS from taking over his brain.
But Poser said believes the heavy focus on MRIs to diagnose MS and to track its course is one of the main reasons so many people are misdiagnosed.
''Today it looks as though most neurologists are making the diagnosis based exclusively on the MRI,'' Poser said. He said he believes the growing number of MRIs also pushes the tolerance of patients. Leahy, who is usually a cooperative patient, said he got so sick of MRIs at one point that he refused one.
The problem, Poser said, is that when someone is looking for MS on an MRI, it's easy to see little signs that imply the presence of the disease, but miss the big picture. Underscoring the point, Poser slips a slide into a projector and asks, ''What do you see?'' Then he replaced the slide with one of a zebra, of which the first slide was clearly a detail.
''Stripes,'' he said. ''That's what a radiologist sees'' rather than the whole zebra. The whole zebra, which would include the patient's symptoms as well as test results, may suggest something aside from MS.
And Poser said the problem will only get worse now that new guidelines, published in July in the Annals of Neurology, have become standard, because they incorporate MRI findings as important criteria for diagnosing the disease. And that means more neurologists will feel pressured to prescribe expensive medications earlier in the course of the disease because of two influential studies that showed that patients with very early signs of the disease might benefit from drugs.
''Frankly, the new criteria, rather than solving a problem, are opening an enormous can of worms,'' said Poser. ''We're in the midst of a therapeutic frenzy.''
But critics say Poser's claims are off the mark.
''There's a fine line between overdiagnosing and undertreating,'' said the National Multiple Sclerosis Society's Dr. Stephen Reingold, who helped author the July guidelines, which he said do not rely too heavily on MRIs. ''The issue is to provide assistance to those who are responsible for making the diagnosis, to allow them to take advantage of the technology we already have.''
MS is not being overdiagnosed any more than any other complex disease, said Dr. Howard Weiner, director of the Partners Multiple Sclerosis Center at Brigham and Women's Hospital and Massachusetts General Hospital, and a leading researcher into treatments for the disease.
Ten percent overdiagnosis or underdiagnosis, he said, is probably about right, and is considered within the standard error for many diseases. The new guidelines, Weiner said, ''incorporate the MRI, and are needed, because we have drugs that can be given very early in the disease.''
''The drugs are not a cure,'' said the MS Society's Reingold. ''They're only modestly effective. But they are having an effect on quality of life and medical costs.''
Still, there are some critics other than Poser. Some experts have said the new guidelines may be too complicated and conservative, and may even lead to underdiagnosis. The majority of cases are clear-cut, said Dr. Jeffrey Cohen, director of experimental therapeutics at the Mellen MS Center at the Cleveland Clinic Foundation, but the number of misdiagnoses is now about 10 to 15 percent.
And the new guidelines probably won't help.
''If someone like me who has been
in the field for 20 years has to refer to a cribsheet,'' Cohen said, ''it
should tell you something.''
This story ran on page C1 of the
Boston Globe on 9/18/2001.
© Copyright 2001 Globe Newspaper
This story ran on page C1 of the Boston Globe on 9/18/2001.
© Copyright 2001 Globe Newspaper