The Autoimmune Epidemic: Bodies Gone Haywire in a World Out of Balance--and the Cutting-Edge Science that Promises Hope (No Series) (4 page)

It worked. Jan went home again. But a disquieting mystery still lingered in the air. Why weren’t blood thinners working for Jan as they did for other patients? Jan scheduled an appointment with her local internist and posed the question to her, only to be brushed off with the words, “Well now,
that’s
chasing a real zebra.” Jan never went to her again.

Still, the insertion of the blood filter had made some difference for Jan; she was no longer living in a state of full-out perpetual crisis. The clots blocking the pathway to her arteries had dispersed, allowing oxygen to flow into her lungs again—except for the small percent of lung tissue that had died. Nevertheless, she felt so wiped out that she couldn’t walk down a hall without pausing to catch her breath. Stairs were out of the question. Twelve hours of sleep did nothing to relieve her weariness. Many days, it was all she could manage to get out of her bathrobe and make a cup of tea by noon.

Despite the residual severe fatigue, weakness, and shortness of breath, she managed to attend a medical conference six weeks later. At the conference, as serendipity would have it, Jan met a dynamic young physician by the name of Alex Spyropoulos, whose passion was deciphering unusual clotting disorders. As the medical director and founder of the Clinical Thrombosis Center at Lovelace Sandia Health Systems in Albuquerque, Spyropoulos was presenting his research on designing new ways to use blood-thinning drugs. He also happened to be the author of a case report in a medical journal on a newly emerging autoimmune disease that dangerously altered clotting factors.

Reeling from what she calls a kind of “mortal exhaustion,” Jan approached Dr. Spyropoulos after his hour-long lecture and put forth the question, “How could an active woman like me have recurring clotting even on blood thinners? What’s
happening
to me?”

Two weeks later, Jan sat on an examining table inside Alex Spyropoulos’s office, relaying to him a medical history that had stumped half a dozen physicians. In addition to all that she had been through physically, she told him, she’d also been experiencing some cognitive problems—a kind of recurring brain fuzziness and forgetfulness that deeply concerned her. Hearing this, Spyropoulos looked up over his notes at Jan, one thick, black brow furrowed. It was his dedication to tough cases that had earned Alex the nickname of “Dr. Spy” among patients who were grateful for his detective-like zeal on their behalf. He had a hunch, he told Jan, that she was not yet on a high-enough dose of anticoagulants. Rather than worry her by playing out possibilities, he ordered extensive blood work and, for added insurance, wrote her a prescription on the spot, upping her dose of medication. “If you have what I think you have, the anticoagulants you’re taking will not be sufficient to do the job,” he told her, ripping the script off the pad and handing it to Jan.

One week later, Dr. Spyropoulos received Jan’s blood work and found his earlier suspicions confirmed. He immediately called Jan’s office at Oakland’s Children’s Hospital where she was working late. It was well into the evening and most of the hospital office lights were out. Jan still remembers hearing her line ring and rushing in to pick it up.

“I think I know what you have, Jan,” Dr. Spyropoulos told her, excitement accelerating his delivery. Spyropoulos had already treated a number of patients with mysterious clotting problems who’d also reported the onset of “brain fog” as a debilitating symptom. When Jan’s blood work hit his desk, so did Alex’s eureka moment. Jan’s blood showed the precise biomarkers for an autoimmune disease known as antiphospholipid antibody syndrome, or APS, an illness he’d seen too often of late in other thrombotic patients.

“I had no idea what he was talking about,” Jan recalls. “I had never even heard of APS.” She fumbled for pen and paper in her darkened office. The three other doctors who shared her workspace had already gone home, and the hospital was unusually quiet.

Spyropoulos explained to Jan that APS, also known as “sticky blood,” or Hughes syndrome, was an autoimmune disease in which the body produces antibodies, or immune fighter cells, that mistakenly disable the very proteins in the blood that the body needs to prevent excessive clotting. Without these proteins, called phospholipids, your blood begins to clot and has no mechanism by which to
stop
clotting.

As Dr. Spy talked, Jan began to put the pieces together. One of the functions of the immune system is to act like a rapid-response
SWAT
team, reacting to any invading microorganism, such as viruses or bacteria, by producing antibodies—fighter cells—which seek out and destroy those unhealthy and often life-threatening organisms.

But in a wide range of autoimmune diseases, the body’s immune cells lose their ability to read the difference between your own healthy cells and the foreign bacteria or viruses—or other unrecognizable microscopic organisms from the environment around you—that enter your body. They don’t stop at merely disabling these invading foreign agents, they go on to destroy the body’s own healthy tissue in deadly rounds of friendly fire. For reasons scientists are only now beginning to understand, the immune system goes on an erratic rampage, disabling the body itself.

In Jan’s case, antibodies that were supposed to keep her healthy were instead attacking the very phospholipids that were instrumental to keeping her blood from clumping like cottage cheese in her veins.

Antibodies that turn on one’s own tissue are known as autoantibodies—
antibodies
meaning “fighter cells,”
auto
literally meaning “self.” As with many of the more newly recognized autoimmune diseases, isolating and testing for specific autoantibodies that point to the diagnosis of APS can be tricky to perform, and new blood tests for APS, in particular, are hard to compare from one lab to the next. At Jan’s office visit several weeks later, Dr. Spyropoulos explained to her that her screening test was “positive for autoantibodies that show you have APS.” Although a second follow-up blood test didn’t confirm as high a level of those autoantibodies, nevertheless, Spyropoulos told Jan, “I think it fits. Your body is certainly acting like you have APS.” In 2003, antiphospholipid antibody syndrome was a recently discovered disease; physicians had only known of its existence for twenty years. “There may be other antibodies involved that we don’t yet understand or know how to test for,” he admitted to Jan. “But that doesn’t mean that we can’t name and treat your disease.”

Dr. Spy started Jan on much higher than usual doses of the heavy-hitting anticoagulant Coumadin, which is often required for patients with sticky blood. He also set her up on a constant home blood-monitoring program so that she could keep tabs on her coagulation levels around the clock. When Jan failed even on this regimen, he started her on long-term self-injections of an anticoagulant known as low-molecular-weight heparin, which had only recently been used to treat patients with APS who had not responded to Coumadin therapy.

Today, Jan has expert supervision of her case and is better able to manage her disease. But myriad threats still lurk in her future. Patients with APS have a dramatically increased risk of migraine, sudden stroke, multiple sclerosis (MS), and lupus, the latter a disease in which the immune system develops antibodies that can mistakenly attack a range of organs in the body, including the joints, kidneys, heart, lungs, brain, and skin. Like all autoimmune patients, Jan is statistically three times more likely than others to be struck with more autoimmune diseases down the road.

Meanwhile, four years after her diagnosis, the side effects from the drugs Jan takes pose additional problems. She lives with constant bruising that she describes as “permanent bands of discoloration across my abdomen.” Recently, she knocked her foot against the side of a swimming pool, and what started as a tiny bruise morphed into a black and blue hematoma from heel to toe, requiring a trip to the ER.

Those kinds of crises are commonplace for her now. But Jan doesn’t just worry about what might happen if she were to be insufficiently anticoagulated again. She worries, she says, “about uncertainties like how long will I be able to stay in medicine?” Already, Jan has opted to retire early from the operating room, concerned that the damage APS has done to areas of her brain and her resulting brain fog might jeopardize her ability to keep “the promise I make to all my kids’ parents that I will do my best to take care of them in the operating room.” Having stepped out of anesthesiology she has decided, instead, to work with children in palliative and hospice care.

She and David also want to backpack again, but she asks, “Will we be able to? What if I bleed and we’re too far from help?” She also dreams of rejoining overseas medical missions to help children. But she’s not willing to risk falling sick far from U.S. borders. “U.S. doctors don’t know much about autoimmune diseases in general and APS in particular,” she explains. “What about doctors in the remote parts of India or Belarus or Kenya or Brazil or the other places I have worked?”

Despite all this, she pushes herself to ride her bike, swim, and even run as often as she can. She pushes herself, she says, “because I’m afraid if I stop, I’ll never get going again.”

In a certain light, it makes sense that six out of the seven doctors whom Jan saw completely missed her disease. Healthy women in the prime of life rarely have lung clots, much less APS. Still, doctors didn’t miss Jan’s disease just because blood clots seem a counterintuitive diagnostic call in a hard-core cyclist, or because APS is a relatively rare disease. Statistically, Jan’s chances of having APS at the age of forty-nine were greater than her risk of having ovarian cancer or leukemia—uncommon cancers that physicians routinely test for when telling symptoms appear. In fact, recent studies reveal that antiphospholipid antibodies are found in 2 to 5 percent of the population. As many as a quarter of women with recurrent miscarriages end up being diagnosed with the autoimmune disease APS, and one in five women who’ve suffered blood clots in the legs or strokes in the prime of life test positive for APS, making it more prevalent in women than leukemia and ovarian cancer combined.

No, the real reason doctors missed Jan’s syndrome is because APS falls into the category of one of nearly one hundred autoimmune diseases that doctors have only in the last decade begun to recognize and understand. Almost every one of Jan’s physicians failed to see that she was suffering from an autoimmune condition because, like most day-to-day practitioners, they remain uninformed about how to recognize patients who are suffering from these diseases in the first place. Because Jan’s disease was autoimmune in nature, they missed the call.

THE COLD, HARD NUMBERS

Most of us, at some juncture in our lives, have played out in our minds how devastating it would be to have our doctor hand down a cancer diagnosis or to warn us that we are at risk for a heart attack or stroke. Magazine articles, television dramas, and news headlines all bring such images home. But consider an equally devastating health crisis scenario, one that you rarely hear spoken about openly, one that receives almost no media attention. Imagine the slow, creeping escalation of seemingly amorphous symptoms: a tingling in the arms and fingers, the sudden appearance of a speckled rash across the face, the strange muscle weakness in the legs when climbing stairs, the fiery joints that emerge out of nowhere—any and all of which can signal the onset of a wide range of life-altering and often debilitating autoimmune diseases.

Imagine, if you can: the tingling foot and ankle that turns out to be the beginning of the slow paralysis of multiple sclerosis. Four hundred thousand patients. Excruciating joint pain and inflammation, skin rashes, and never-ending flu-like symptoms that lead to the diagnosis of lupus. One and a half million more. Relentless bouts of vertigo—the hallmark of Ménière’s. Seven out of every one thousand Americans. Severe abdominal pain, bleeding rectal fissures, uncontrollable diarrhea, and chronic intestinal inflammation that define Crohn’s disease and inflammatory bowel disease. More than 1 million Americans. The incapacitating weakness and burning pain that accompany the inflammation of the joints and other organs and lead to the crippling effects of rheumatoid arthritis. More than 2 million patients. Dry mouth so persistent eight glasses of water a day won’t soothe the parched throat and tongue and the mysterious swallowing difficulties that are the first signs of Sjögren’s. Four million Americans. And, with almost every autoimmune disease, intolerable, life-altering bouts of exhaustion. If fatigue were a sound made manifest by the 23.5 million people with autoimmune disease in America, the roar across this country would be more deafening than that of the return of the seventeen-year locusts.

And yet, despite the prevalence of autoimmune disease, surveys show that more than 90 percent of people cannot summon the name of a single autoimmune disease when asked to name one specifically. Think of it—other than walkathons for multiple sclerosis, how many fundraising walks or lapel ribbons have you seen for autoimmune disease in general? Nearly 24 million Americans are suffering from an autoimmune illness, yet nine out of ten Americans cannot name a single one of these diseases. It boggles the mind.

Each of these nearly one hundred autoimmune diseases derails lives. Taken collectively, these diseases, which also include type 1 diabetes, Graves’ disease, vasculitis, myasthenia gravis, connective tissue diseases, autoimmune Addison’s disease, vitiligo, rheumatoid arthritis, hemolytic anemia, celiac disease, and scleroderma (see the appendix for full list) are now the number-two cause of chronic illness in America and the third leading cause of Social Security disability behind heart disease and cancer. (Acquired immune deficiency syndrome, or AIDS, by contrast, is
not
an autoimmune disease; in fact, it is entirely different. In AIDS a virus attacks the immune system and destroys it, whereas in autoimmune disease, the immune system leads the attack, mistaking the body’s tissue for an invader and turning on the body itself.) Autoimmune diseases are the eighth leading cause of death among women, shortening the average patient’s lifespan by fifteen years. Not surprisingly, the economic burden is staggering: autoimmune diseases represent a yearly health-care burden of more than $120 billion, compared to the yearly health-care burden of $70 billion for direct medical costs for cancer.