There’s an absolutely fascinating medical story in today’s New York Times Magazine, a case that reads like something straight out of an episode of House.
It’s the story of a young woman rendered rapidly comatose with encephalitis caused by an immune response to a benign teratoma in her ovary. Teratomas are funky tumors that can contain elements of skin, hair, nails, bone, thyroid and neural tissue. An unusual immune response to the teratoma in this woman led to development of antibodies to her own neural tissue, which then began to attack her brain and led to her coma. When the teratoma was removed, the immune response waned and comatose woman woke up and went on to an almost full recovery.
Astute readers will recognize this story from a recent case report in the New England Journal of Medicine. In that article, we learn that what happened to this woman is a rare condition called called Inflammatory Limbic Encephalitis, and it is not unique to teratomas but can occur in response to other tumors, both benign and malignant.
In the Times article, the medical resident who diagnosed the patient actually comes across another case the following year and worries that there may be more young women out there similarly afflicted yet undiagnosed. (Expect a rash of pelvic sonograms, CT’s and MRI’s for everything from schizophrenia to depression looking for teratomas…) I can reassure her that in my two decades or more of practicing medicine I’ve never heard or read of even one case until now.
I did, though, allow myself about 5 minutes of wondering if perhaps my migraines were not an auto-immune reponse to some microscopic, never diagnosed teratoma hidden deep within my ovaries, too small to be seen on the imaging studies I have had over the years for various reasons. Until I reminded myself that surgical removal of the ovaries actually tends to worsen migraine in more women than it helps them. Oh well, nothing is simple…
And that’s the problem with modern medicine – it’s not simple. Case reports like these, while fascinating, can be misleading. They’re the Made-for-TV medical stories that makes curing disease seem like such a simple exercise – the cause of your problem is visible, measurable and even better, removable! (Now you understand why surgeons love what they do. Their motto is – “To cut is to cure.” If it can’t be cut out, it’s someone else’s problem. Next case!…)
Unfortunately, most of the diseases that cause morbidity and mortality in our country are chronic diseases with multi-factoral etiologies whose cures are as varied as their causes, aren’t as much fun and don’t make for exciting spreads in the Times. Disease like diabetes, hypertension and heart disease. Would that there were a tiny tumor somewhere causing all those problems.
I wouldn’t count on it.
“Disease like diabetes, hypertension and heart disease. Would that there were a tiny tumor somewhere causing all those problems.”
Yep, one does…and it usually is tiny: pituitary adenoma
Findling, et al and Cartagie, et al talk about how an extraordinarily large population of diabteic patients actually have Cushing’s disease. Hypertension and cardiovascular complications are well-known symptoms of Cushing’s Disease.
In patients with Cushing’s syndrome (CS) cardiovascular complications determine a mortality rate four times higher than in an age- and gender-matched population.
And there is more, much more…
Robin-
You’re right – Cushings is one of those diseases where a single cause can be found to affect multiple organ systems,and is potentially curable with surgery.
And while some Cushings patients tragically go undiagnosed, the truth is that the vast, vast majority of the millions of folks out there with these medical conditions do not have Cushings.
Thanks for reading.
Interesting case, I recently wrote about a patient we saw with a 3 year diagnosis of MS, turned out to be a
paraneoplastic syndrome secondary to a small cell lung cancer.
As you mention, and to reiterate, these are rare causes of disease in general.
Fasinating story.
Not directly relevant, but your comment about migraines called to mind the November 4th interview on the NPR/WYNY radio show “Fresh Air” with Neurologist Carolyn Bernstein about her new book “The Migraine Brain” . Two of my four family members get wicked-good migraines. The interview is still available on iTunes podcast. Bernstein is a professor at the Harvard Medical School and is founder/director of the Women’s Headache Center in Cambridge. I was struck by many things, but especially her comments about caffeine.
Are we sure about Cushing’s? Is it so rare or is it just rarely diagnosed? We know that doctors have a hard time diagnosing the disease. We know that even with mountains of tests results, some doctors are unwilling or unable to make the diagnosis. We aren’t just talking about PcP’s here either.
I’m with Robin on this one. My personal experience and reading that of hundreds of others leads me to believe that Cushing’s is probably missed many times over the actual amount of people diagnosed.
Shows like Mystery Diagnosis and National Geographic brought out a flood of individuals who are being proven to have Cushing’s through blood, urine, salivary and ultimately pathology. These are people who knew something was wrong, and yet their doctors can’t see the zebra stripes because they aren’t trained to look.
So if Cushing’s affects 200 people a year in this country, how many are missed? How many are missed because they are tested, but the presumed gold standards of testing don’t work for the majority of people all the time?
I put before you that the vast number of Cushing’s patients go undiagnosed, misdiagnosed, untreated and mistreated. It is just to hard to get a diagnosis for Cushing’s. Spend some time in the Cushing’s community. This is the reality we live when we are forced to become doctor, nurse, lab tech, insurance specialist and lawyer so we don’t become another statistic.
“And while some Cushings patients tragically go undiagnosed, the truth is that the vast, vast majority of the millions of folks out there with these medical conditions do not have Cushings.”
How do you know? Have you tested those people with those symptoms? Most docs don’t. They blow them off, as you have. “It can’t possibly be Cushings.” A lot more people are suffering because docs have treated them for something minor and then sent them on their way. So they will get progressively worse.
“ONE IN FIVE” individuals may have an abnormal growth on their pituitary gland causing significant health complications that, if left undiagnosed and untreated, can impair normal hormone function and result in a reduced life span.”
From the pituitary.org website. Cushings may be more rampant than you think causing hypertention, diabetes, etc. Docs need to SERIOUSLY rule it out, not by one test, but by many. And we have to get the word out there, that this is no longer a rare disease. Just rarely treated.
A friend of mine compiled this for me today:
On the ultimate exit polls (autopsy studies) in unselected cases as many as 25% have pituitary adenomas. Other autopsy studies put the numbers between 14 and 22%.
http://findarticles.com/p/articles/mi_m0CYD/is_/ai_100131464
Information from the American Brain Tumor Association indicates pituitary tumors that are diagnosed represent 10% of diagnosed primary brain tumors. The Brain Tumor Center at St. John’s Health Center puts the number of pituitary tumors as a portion of primary brain tumors diagnosed between 10% and 20%.
The majority are secreting. This is consistent with information from the National Institute of Health that indicates about 75% of pituitary adenomas are secreting.
http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/000704.htm
Check out the booklet at the American Brain Tumor Association site, A Basic Introduction to Pituitary Tumors. The article on pituitary tumors starts on page 47.
http://www.abta.org/index.cfm?contentid=23…CFQpjnAodN0vvQg
Why the difference in apparent prevalence and diagnosis? The Pituitary Network list the following 4 main reasons.
http://www.pituitary.org/faq/
There are four main reasons:
1. Pituitary tumors/disease present a vast array of symptoms, and it’s often the symptoms that get treated, not the disease. As a result, pituitary patients can spend years being misdiagnosed as their tumors grow. People with undetected pituitary tumors can die of heart attacks, hypothyroidism, adrenal insufficiency or water balance problems, all of which can mask the main cause: a pituitary tumor.
2. dollars spent. As a result, we have failed to answer the most important question: Why are pituitary tumors so common?
3. There is a lack of education within the medical community and among the general public.
4. The insurance industry hasn’t caught on to the untold billions of dollars that could be saved through early diagnosis and treatment. Once it becomes clear that it’s in everyone’s best interest, the word will spread.
Pituitary tumors and secreting problem causing pituitary tumors are not rare, just rarely acknowledged and diagnosed.
Pituitary tumors as secreting problem causing entities are not rare, just rarely acknowledged and diagnosed.
I would like to add one should also read Dr. Ian McCutcheon’s (neurosurgeon at M.D. Anderson) take on pituitary tumors.
After years of suffering—it was found that my problems were due to a pituitary problem too.
I had to travel thousands of miles and spend thousands of dollars to find a doctor who understood what may be going on—and knew what tests to order to confirm a diagnosis.
I am still testing—but I would be dead if I listened to a local “expert” who said my tumor was too small to cause any sort of problems…
All my problems—from intermittent blindness to extreme muscle weakness and fatigue had their genesis in my pituitary tumor.
An episode of Mystery Diagnosis featuring a woman’s struggle with Cushings helped me find the help I needed.
justashell
Great blog, Miss! And thanks for the big laugh, as I watched that hilarious scene from My Big Fat Greek Wedding. “It was my OWN TWIN!” is one of my favorite movie lines of all time. Andrea Martin rules!
Hello,
I really need help with this topic. My sister is 27 years old and she is in a catatonic state. she was diagnosed with an ovarian teratoma with encephalitis. She has been like this for almost four months. the doctors know nothing, and she is now in a nursing home. Can someone please help!!! She has had a plasma excange performed, but it did not seem to help.