Why is Lyme disease so hard to diagnose?

In 2014, Canadian singer Avril Lavigne spent five months bedridden with pain, lethargy, dizziness and loss of appetite while top doctors scratched their heads over the cause. One told her she was depressed, another that she had chronic fatigue syndrome. Frustrated, she did her own research, and began to suspect she had Lyme disease, caused by a bite from a blacklegged tick carrying the Borrelia burgdorferi bacteria. When she finally received a diagnosis, she began treatment and now says she’s 80 per cent recovered.

In 1999, author Amy Tan chronicled her years-long battle with bizarre symptoms that, after a battery of tests, one session with a shrink and consultations with 10 specialists, ultimately revealed Lyme disease. And these are only the more famous cases — at least 700 regular Canadians are infected every year (up from 128 in 2009 and 315 in 2012), and some experts believe there are hundreds, maybe thousands, more cases that have been either undiagnosed, misdiagnosed or unreported. Why is a not uncommon affliction so hard to diagnose? Mostly because the symptoms can mimic other diseases and conditions, many doctors don’t recognize Lyme, and because test results can be unreliable.

Signs and symptoms

Not everyone affected by Lyme disease, also called Lyme borreliosis, will have the same symptoms, but, according to Health Canada, generally they include a bullseye-shaped skin rash (although not always), headache, fever, chills, fatigue, weakness, numbness or tingling, confusion, memory loss and other neurological damage, abnormal heartbeat, pain and paralysis.

In 2014, model Chrissy Teigen discovered she had been bitten by a tick after taking to social media to ask about her bullseye-shaped rash. (Instagram/chrissyteigen)

Because they’re not always familiar with the disease, many health professionals, like Avril Lavigne’s and Amy Tan’s, will be stumped by the symptoms, which, depending on where the bacteria have migrated, can mirror such diseases and conditions as fibromyalgia, multiple sclerosis, rheumatoid arthritis, ALS and lupus. Misdiagnosis, or non-diagnosis, can delay treatment, allowing the disease to progress to much more chronic and persistent symptoms and debilitation.

ALSO SEE: How to protect yourself from ticks and Lyme disease

Definitive diagnosis?

According to the Canadian Lyme Disease Foundation, the blood test for Lyme disease is not an exact science, and many people receive false negative – and, less common, false positives. And the classic bullseye rash which, depending on the source, presents anywhere from nine per cent to 60 per cent of the time, may not occur at all. And if it does, it could indicate something else altogether.

Infectious disease specialist Dr. David Patrick, of UBC’s School of Population & Public Health, says, “There are a lot of people who are treated for circular rashes and that’s good because it means that the doctors, if anything, are over-treating. But there’s a list of 15 or 16 things that give you a circular rash — anything from ring worm to various other forms of skin rashes. So if somebody is calling it Lyme disease, a lot of the time it won’t be.”

Meanwhile, many frustrated sufferers who are not getting the answers they so desperately need from sometimes dozens of doctor visits in Canada often turn to specialty labs in the U.S. But Patrick urges caution.

“These are not regulated as they would be in Canada by health authorities or provincial statutes,” he warns. “A couple of years ago, Dr. Brian Fallon from Columbia University’s Lyme and Tick-Borne Diseases Research Center did an external quality control check on some of these labs. He [took] a clear-cut group of patients who had Lyme disease, a clear-cut group who didn’t have Lyme disease, and compared them with the reference lab [an independent, usually private lab that does specialty testing]. He found that the [U.S.] labs were no better than the reference labs at finding Lyme disease when it was there. Also, these labs labeled 57 per cent of healthy people without Lyme disease as having the disease. You could literally flip a coin and have more correct answers. It kind of works like a diagnostic Ponzi scheme. You build up the impression that the epidemic is bigger than it is, more people test, and the lab makes more money.”

Labeling symptoms

Lyme disease, he says, could be diverting a patient from a correct diagnosis, causing more problems down the road.

“The symptoms that are being used to diagnose so-called chronic Lyme disease are ubiquitous symptoms in human populations,” he says. “Countries with no Borrelia at all in ticks have people with just as much chronic fatigue, just as many body aches as you do in Connecticut, where it’s Lyme central [Connecticut has the highest incidence in North America, with roughly 30,000 people diagnosed per year; in fact, the disease takes its name from the state’s small town of Lyme, where it was first recognized]. So the question is whether we’re just quick to label simply because we want an answer. I think that’s where the problem is for a lot of patients, in the Northwestern part of North America, anyway.”

Currently, the conventional testing in Canada, which follows the Infectious Disease Society of America’s method, is a serologic blood test that looks for antibodies (your body’s immune response) to the bacteria that cause Lyme. Antibodies, however, don’t typically appear until several weeks after infection, when treatment is less effective.

“That’s why we encourage treatment even without the antibody test,” says Patrick. “But by the time you get into the later stages, the serological tests are actually very positive almost all the time.” Other sources, however, say some very sick patients may test negative because their immune systems have been depleted and may not be able to make the antibodies these tests are looking for.

“If somebody presents with a bullseye rash, the protocol is that the physician treats them immediately, you don’t wait for test results because at that stage they may not test positive,” says Dr. George Chaconas, professor of infectious diseases at the University of Calgary and Canada Research Chair in the Molecular Biology of Lyme Borreliosis. “Those who don’t have a bullseye rash early on can test negative until several weeks after the infection. One can test again, but that’s the weak point of the test — its inability to pick things up early on.”

Patrick, who maintains there’s general agreement among microbiologists and infectious disease experts around the world who have faith in the current method of testing, says DNA tests can also be performed on the bacterium. And the Polymerase Chain Reaction test, which is used to detect the bacteria on the ticks themselves, can also be done from rash tissue or an infected joint.

Chaconas says there needs to be better methods than the standard serology test, and research is ongoing. One promising area is in metabolomics, which looks for metabolites (any substance produced during metabolism) that can result from infection. Also, in the U.S., a researcher at the University of Virginia is testing urine samples for trace amounts of the Lyme bacteria. Patrick says he’s studied new sequencing methods to find microbial content in blood samples. “We’re also looking at gene expression with a group at UCSF run by Dr. Charles Chiu, who’s previously reported a gene expression profile that’s unique to Lyme disease.”

Meanwhile, the new Ontario-based G. Magnotta Foundation For Vector-Borne Diseases is focusing on better research, diagnostics and treatments in Canada.

ALSO SEE: Four Toronto locations pinpointed for ticks carrying Lyme disease

Lyme on the rise

Most healthcare professionals and researchers agree the disease is on the rise, mostly due to climate change and because doctors are recognizing it more. “When there’s more awareness there’s more testing, and we find more cases,” says Chaconas. “But it’s also true that it is on the rise because infected ticks are expanding their range. And with climate change, it would appear that we are going to see infected ticks showing up in more places.”

He says some regions have a higher proportion of Lyme disease than others. “I think, at the moment, Kingston, Ont., is probably the hot spot in Canada. It’s a humid place, there is a lot of brush and certainly bird migrations through the Great Lakes. Although those all contribute, it’s a bit of a mystery why Kingston is the hot spot.”

Chaconas says the Lyme-transmitting ticks, which are most active from spring through early fall, can now live through most of Canada’s winters, which are becoming milder and wetter, prime conditions for the little bloodsuckers. They do not like dry environments, which is why Alberta sees relatively few.

“Now, that doesn’t mean we won’t in the future,” he says. “Also, places that see bird migrations, and Alberta is certainly one, will get these ticks falling off of birds,” and potentially causing more infection wherever the parasitic hitchhikers land.

Patrick, however, says, “If you’re in Washington, Oregon or B.C., maybe you have the impression that it’s on the rise because you’re hearing about people testing at these [U.S.] labs that don’t perform very well. But when you look at people with clear-cut diagnosis in B.C. and Washington, there’s been no increase over time. The bug is here [in B.C.] but in 1 in 200 ticks, which is 100 fold lower than what you see in Connecticut, southern Ontario or southern Nova Scotia.”

Treatment

Currently, the only treatment for Lyme disease is a two- to four-week course of antibiotics, which can be very effective when the disease is caught early. Those with chronic Lyme or Post-Lyme Disease Syndrome may not be so lucky. But, says Chaconas, that’s only about 10 percent of people. Nevertheless, the cost for those 10 per cent — and others who have been misdiagnosed — can soar to many thousands of dollars, particularly if they’ve had to seek treatment in the U.S.

Patrick says, “What we really need to do in terms of a cure is understand the full range of things that could be driving these chronic debilitating symptoms in people who are grasping for the Lyme diagnosis as an answer when there’s evidence that there could be other things at play.”

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How to protect yourself

Last May, the government of Canada held a conference in Ottawa to develop a federal framework to help prevent and reduce Lyme disease, including better tracking, identification and treatment. While those plans are being put into action, you can fend off ever getting this horrible disease by never letting the vile little vampires latch on. Avoid tall grass and leaf litter, but, if you can’t, wear light-coloured clothing, tuck your pants into socks or boots, and use DEET insect repellent. Afterward, check your clothing, skin and scalp. Take a hot shower and toss your clothes into the dryer to kill the pests before washing.

If you do find a tick, remove it with a good pair of tweezers or forceps. Be sure to grab it between its head and your skin and pull all of it straight out, including the head, since the bacteria migrate to the salivary glands. Do not squeeze. “It’s like a tube of toothpaste,” says Chaconas. “If you squeeze it, you will be squeezing whatever it’s carrying into yourself.”

The tick generally needs to be attached to you for 24 to 48 hours before it can transmit infection, so the sooner you remove it, the better. You can submit the tick for testing by saving it in a plastic bag or container with a tight lid and a damp cotton ball to keep it alive. To find a microbiology lab near you, check your province’s Centre for Disease Control or Health Canada.

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