An Independent Diagnosis

By Tony MiksanekFeb 1, 1993 6:00 AM


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Caitlin literally stumbled into my office late one sweltering afternoon at the beginning of July. She didn’t have an appointment, but that didn’t matter: she was swaying on her feet, gripping her head in her hands, and looking around somewhat blankly. I knew she had to be seen right away. After my nurse and I helped her onto the examining table, she curled her body into a ball of pure misery. With just about any patient, such a posture would be alarming, but with Caitlin it was nothing short of shocking. I have a family practice in a small town in Illinois, and I’d known Caitlin for much of her 23-year life. Having seen her through fevers, sore throats, and even an appendicitis attack that she had laughingly described as just a bellyache, I knew she had a pain threshold unrivaled by most.

My head feels like it’s ready to explode, she said huskily, wincing. She looked up, her hands still clamped around her head as if to keep it from doing just that. At times I feel like I’m burning up, then suddenly I start shaking with the chills. I feel like I’ve been run over. Her voice dropped to a whisper and she started to cry. Help me.

To do that, I first needed to get her recent medical history-- what she’d been up to, where she’d gone, who she’d seen. It’s the most important information a physician can have; an astute listener with the right questions and a modicum of patience can often make a diagnosis from a history alone. I learned that Caitlin had returned just a week earlier from a vacation in Florida, perfectly healthy and in great spirits. But for the last two days she’d been fighting the increasingly excruciating headache and the fever and chills she’d already described; in addition, she revealed, she was nauseated, the muscles in her back and legs ached, she had a sore throat, and she was exceptionally weak.

As we talked I started compiling a list of possible diagnoses in my head, anything that would explain her symptoms and their severity. Could it be meningitis, an inflammation of the membranes covering the brain and spinal cord? She didn’t think she’d been exposed to anyone with the disease, but she couldn’t be sure. Might it be a severe flu or other viral infection? What about mononucleosis? She couldn’t think of any friends or family members with similar symptoms, but again, she wasn’t positive. Food poisoning? She didn’t think she’d ingested any suspect food or tainted water, but after all, she had been on vacation. Lyme disease? Rocky Mountain spotted fever? She hadn’t seen any ticks on her body, or any tick bites, but she’d done some camping in Florida and might just have overlooked a tick. Toxic shock syndrome? Well, she had just completed her menstrual period, and she did use tampons, so that was also a possibility.

There wasn’t much I could do for Caitlin in my office: I decided to get her admitted to our small local hospital. I knew I had made the right decision when she didn’t even argue with me.

When I got a chance to thoroughly examine Caitlin, I found she had a temperature of 104 degrees and was slightly dehydrated and quite weak. Her eyes were mildly sensitive to light, which can be a sign of meningitis, but her neck wasn’t stiff--an argument against that diagnosis. The nurses took samples of her blood, urine, and sputum (the stuff that comes up when you clear your throat) and sent them to the lab, asking the technicians to make sure to test the blood for mono, Lyme disease, and Rocky Mountain spotted fever. I ordered a chest X-ray to rule out the possibility of pneumonia or some other respiratory ailment. And before the night was out, I performed a spinal tap in hopes of ruling out meningitis.

The spinal fluid showed no signs of meningitis. The chest X-ray was clean. The mono test was negative. A blood count showed that Caitlin had a surprisingly normal number of white blood cells--the number should have been at least twice as high in someone with an infection as severe as Caitlin’s appeared to be. A few of the results were slightly off: she had a somewhat low level of sodium and a borderline-low protein level in her blood, and her liver appeared to be working a little bit harder than usual. Unfortunately, these are nonspecific findings. They’re pieces of the puzzle but they don’t fit into any real pattern. They’re the kinds of signs you can’t pin a diagnosis on.

So, on paper, the case was still muddled. But although some doctors would never admit it, and patients might be frightened to hear it, intuition plays an important role in the practice of medicine. And my intuition was suggesting to me that Caitlin had Rocky Mountain spotted fever. The blood tests would take a while to come back, but in the meantime I’d already eliminated meningitis and pneumonia. Her blood count and other tests made it seem unlikely that she had a viral infection or toxic shock syndrome. Equally important, though, they didn’t rule out Rocky Mountain spotted fever: for unknown reasons, the white blood cells don’t initially respond to this infection the way they do to most others, so early blood counts are often normal in these patients. And though Caitlin didn’t yet have the characteristic rash found in more than three-quarters of spotted fever cases and she didn’t remember a tick bite, the rest of her symptoms fit--headache, fever, nausea, muscle aches, lethargy.

Rocky Mountain spotted fever is an infection caused by the bacterium Rickettsia rickettsii, which grows inside the cells of ticks and mammals. Ticks can pick up the bug by feasting on the blood of an already- infected rabbit or rodent, and they can pass it on to their offspring. The disease was so named because Rocky Mountain spotted fever was first reported in states such as Montana and Idaho. Ironically, it is now predominantly an Appalachian disease: the majority of cases are found in the Carolinas, Georgia, Maryland, Virginia, and Tennessee, though it can be found almost anywhere in the country (a large number of cases are reported in Oklahoma, for instance). The fever itself comes from the bite of an infected tick--wood ticks in western states, dog ticks in southeastern states--or from crushing one of these ticks on skin that has already been cut or pierced. (That’s why you’re supposed to use tweezers to pull off any ticks that attach themselves to you and not just mash them with your thumb.) As often as 20 percent of the time, however, the patient is either unaware of a recent tick bite or has forgotten about it.

Once in the bloodstream, the Rickettsia bacterium sets off widespread reactions. The immune system’s response to the invader and the toxins given off by the bugs causes inflammation in and damage to blood vessels throughout the body. This can lead to a whole host of complications: encephalitis, pneumonia, kidney failure, shock. If it goes untreated, Rocky Mountain spotted fever can kill as many as 20 percent of the people it strikes; even when treated, 6 to 7 percent of patients still succumb.

That’s why my hunch didn’t stop me from worrying about Caitlin. And I’ll admit I worried a little bit more when the sensitive blood tests for antibodies to Lyme disease and Rocky Mountain spotted fever came back-- both were negative.

This sort of situation emphasizes the occasional conflict between the art and science of medicine, the battle between instinct and technology. In my gut, I knew what Caitlin had. But in my hands were test results telling me something else. Keeping in mind that it can take as many as four weeks for patients with this infection to develop the antibodies these tests look for, I decided to go with my gut.

I had already started Caitlin on two intravenous antibiotics. One was a drug that penetrates into most body fluids and tissues and is effective against a broad spectrum of bacterial infections. The other was doxycycline, an antibiotic that has a good track record in treating disease caused by unusual bugs like Rickettsia and the Lyme bug, Borrelia burgdorferi. In addition, I ordered IV fluids, painkillers, and acetaminophen for her fever. Then there was nothing to do but watch and wait. Patience is a virtue for both doctors and patients, though arguably easier for the former.

On her second hospital day, Caitlin’s condition worsened. She continued to spike high fevers and she became increasingly confused.

Are you feeling any better? I asked her at one point.

Huh? was her only answer. Repeating the question didn’t help. Eventually I did get her to answer a few simple questions--she told me her name and knew that the woman by her bed was her mother--but she couldn’t tell me what day of the week it was or even the month. She was frighteningly weak for such a young woman, despite the care of family and friends constantly huddled around her bed. They reminded me of covered wagons, circling around to defend against an enemy. But Caitlin was almost oblivious to their presence, and I was unable to satisfy them with my answers to their questions. They seemed to expect me to pull magic out of my black bag when all I could offer them was hope.

On her third hospital day--the Fourth of July, as it happened-- Caitlin’s hands and feet became puffy. Even though she still wasn’t responding to the antibiotics, I was encouraged. This was the sign I was looking for. By that evening, a faint pink rash had appeared on her wrists and ankles--a very fine rash under the skin, the kind of rash you can see but can’t feel. A Rocky Mountain spotted fever rash. So on July Fourth, Caitlin and I celebrated--not independence but diagnosis.

By the next morning the rash had become a darker shade of red, and it began to move from her hands and feet to her arms and legs and then to her trunk. This unique rash, and its unique pattern of spreading, is the distinguishing feature of this infection. Only occasionally does it spread to the face and only rarely does it itch. But because the rash is the result of the inflammation of tiny blood vessels under the skin, it can diminish blood supply to the area and lead to gangrene.

Now that I had my diagnosis, I changed Caitlin’s medication slightly, continuing the doxycycline but stopping the other antibiotic. And because she was still so ill, I added intravenous corticosteroids to her treatment because high doses of these drugs, naturally produced in smaller quantities by the body, decrease inflammation and help keep the blood circulating and blood pressure steady. Not everyone agrees that corticosteroids should be used to treat Rocky Mountain spotted fever, but it was the last card I had to play; I hoped it would hasten her recovery. It can take a long time to recover from Rocky Mountain spotted fever, because while the antibiotics can stop the bacteria from reproducing, they can’t get rid of them altogether. That takes the immune system, and the immune system can take its time.

Indeed, it took a few more days, but Caitlin slowly improved: her temperature started to come down and her rash began to fade. After 48 feverless hours, I took her off the IV antibiotic and fluids, substituting doxycycline in pill form. Freed from the restraint of the IV line and with her energy level starting to rise again, Caitlin was like an uncaged bird. The morning I walked in as she was doing her hair and putting on makeup was the morning I realized she was well enough to go home. I practically had to chase after her to give her discharge instructions and a prescription for her antibiotic.

It was two weeks later, at a scheduled follow-up visit, that her blood test finally came back positive, confirming that she’d had Rocky Mountain spotted fever. But her appearance and attitude had already told me all I needed to know.

That must have been some high-octane medicine you used to cure me, Caitlin laughed as she strolled out of my office, steady on her feet.

It certainly was, I politely agreed. But I knew that even though it was the antibiotic that hastened the cure, it was the resilience of youth, the timeliness of a peculiar rash, and the stubbornness of a country doctor that did the healing.

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