posted
I just got around to reading my NYT magazine and came across this article...maybe everbody has lyme to me but this poor woman is now on steroids and I don't think she ever got a good lyme test...
What do you think? (I read that lyme can be misdiagnosed as sarcoidosis.)
By LISA SANDERS, M.D. Published: September 10, 2006 1. Symptoms
Dr. David Podell entered the exam room and introduced himself to the patient. He knew this middle-aged woman was depending on him to finally solve the mystery of her illness.
She had already been to three doctors, and none had any answers for her. In such cases, when the patient has already seen other doctors before arriving at your door, you need to approach the case with a different mind-set -- with different assumptions. You know, for example, that whatever this patient has, it isn't going to be obvious.
Maybe it's an unusual disease, known best by specialists, or perhaps it's an unusual presentation of a more common illness. In any case, it won't be routine.
The woman spoke in a slow, husky vibrato. ``I can remember clear as day when it all began,'' she said. ``It was just over a year ago. I woke up and felt like my legs were on fire.'' She had always been healthy, but that morning the pain had been so severe that she could hardly walk. And she had felt weak -- especially in her left leg.
The cough started a few weeks later, she told him. At first it was a dry cough. Then she started to bring up blood. Recently she felt out of breath with even slight exertion.This morning, she had to stop and rest during the short walk from the parking lot to his office.
She had seen her internist throughout all this. He sent her to a neurologist for the burning and weakness and then a pulmonologist when the cough appeared. Despite their best efforts, the pain, weakness and shortness of breath persisted.
She had been through dozens of tests and scans and a couple of courses of antibiotics, but the specialists were no more successful than her own doctor.
Finally her internist sent her to Podell, a rheumatologist. Such doctors, specialists in diseases of the connective tissue, are often a last resort when patients develop symptoms involving different systems and a diagnosis is elusive.
Because connective tissues are found throughout the body, complex, multisystem illnesses are the rheumatologists' bread and butter.
2. Investigation
The patient was a slender woman with a mass of straight dark hair streaked with gray. Her skin was clear, but her eyes were puffy with fatigue, and she looked older than her 53 years.
Upon examination, Podell found few obvious signs of disease. Despite the cough and breathing problems, her lungs sounded clear. She had some mild weakness in her left hip, but other than that, her joints, skin and muscle were all normal.
Podell thought about the patient's complaints. Her symptoms suggested that her illness, whatever it was, involved the nervous system and the pulmonary system. While there are well-described syndromes linking the lungs to various other systems, a link between lungs and nerves is unusual.
Podell considered some of the difficult diagnoses of his specialty -- diseases that surprised him in the past. Could this be Sjogren's syndrome, in which the immune system mistakenly attacks a patient's fluid-producing glands? Sjogren's can affect the lungs and sometimes spreads to the nervous system. Patients with Sjogren's usually complain of painful eyes or a dry mouth, and this patient had mentioned that her mouth was dry.
What about scleroderma? This strange disease is caused by the overproduction of one of the connective tissues, collagen. The name itself (``sclero,'' from the Greek word for thick, and ``derma,'' meaning skin) describes the hallmark symptom, a thickening and hardening of the skin.
The same process can affect the other organs of the body, distorting these delicate tissues. The patient had no evidence or complaints of this, but perhaps that would appear later.
Podell ordered blood tests to look for evidence of either of these entities. In the meantime, he needed to examine the patient's extensive medical record, especially the tests and results obtained by the other doctors.
When you are the last in a string of practitioners, one of your most important jobs is to review each piece of the puzzle with fresh eyes, questioning every assumption and double-checking the reported results. Far too often in complex cases like this, the answer is already there, just waiting to be discovered.
A long list of blood tests had been done. They didn't tell him much. Each test is like a turn in a game of 20 Questions. Until the right question is asked -- the right test is sent -- the answers are often uninformative. Several tests suggested an inflammatory process, but none identified the cause.
The patient had M.R.I.'s of the head and spine, as well as a CT scan of the chest. Podell was particularly interested in the chest CT, which showed what he had not picked up on his exam: faint, cloudy patches throughout both lungs. These he would review with the radiologist.
Often a second look, especially with more of the patient's story, would reveal unnoticed findings. But in this case, the radiologist merely confirmed what Podell could already see: cloudy areas showed the presence of fluid in both lungs. Etiology: unclear.
3. Resolution
The patient had also had a lung biopsy. The pathology report said there was evidence of inflammation but, like the blood tests, revealed nothing of the cause. He headed over to the path lab to review these with the pathologist, Dr. Tom Anderson.
They sat at the double-headed microscope. Anderson, an Ichabod Crane of a man, bent his long slender frame over the eyepiece to examine the tiny samples snipped from the patient's lung. The first slide showed evidence of extensive inflammation, he agreed, but nothing more. As he zipped across the second slide, Anderson reported that again he saw lots of inflammation. Suddenly he stopped. He quickly flipped the microscope lens to zoom in tight on one group of cells that formed a cluster, quite different in appearance from the cells around it. ``Is that a granuloma?''
These distinctive cell formations are characterized by groups of giant cells that are up to 100 times as large as normal cells and are surrounded by inflammatory cells. They are seen in the lungs only in a few diseases -- most commonly sarcoidosis and tuberculosis.
Podell almost laughed out loud. At last, the needle had fallen from the haystack. This was what he had been looking for -- the missing piece that solved the puzzle of this patient's strange symptoms. She had sarcoid.
``I know what's going on,'' he told the patient over the phone. ``I can explain everything.'' She would need to be tested for tuberculosis, but since she had none of the common symptoms of TB (night sweats, weight loss, fever), Podell felt confident that sarcoid was, in fact, the culprit.
Sarcoidosis (known as sarcoid for short) is a mysterious chronic disease characterized by inflammation of tissues and punctuated by the unusual cell collections. The disease affects the lungs in more than 90 percent of cases but in one-third of all cases can attack other parts of the body as well. Involvement of the nervous system is rare.
This patient had an unusual presentation of a relatively common illness. The most important piece -- the giant cells on the lung tissue -- had simply been missed.
Podell started the patient on prednisone and almost immediately her breathing became easier and the cough disappeared. The damage to the nerves in her legs will take longer to treat and may not be completely reversible. But she can walk up the stairs on her own now -- something she hadn't been able to do for most of the past year.
``Medicine is all about solving the mystery,'' Podell reflects. ``Sure, you want to do it for the patient, but it's also the most powerful pleasure in medicine. We all want to be Sherlock Holmes, and sometimes you succeed.''
-------------------- We are spiritual beings on a human journey...
Sarcoidosis (association with exposure to Lyme) "CONCLUSION: In a region [in Japan] where Lyme borreliosis is endemic, Borrelia infection may be partially associated with sarcoidosis." (1)
(1) Seroprevalence of anti-Borrelia antibodies among patients with confirmed sarcoidosis in a region of Japan where Lyme borreliosis is endemic. Ishihara M; Ohno S; Ono H; Isogai E; Kimura K; Isogai H; Aoki K; et al. Graefes Arch Clin Exp Ophthalmol, 236(4):280-4. 1998.
Excerpt: Biopsies of lymph nodes reveal pathology often indistinguishable from sarcoidosis. Reports of biopsies strongly suggestive of lymphoma do occur.
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