Pure Pedantry

I was distressed to hear that Bernie Mac died last Saturday of pneumonia at the age of 50. I always thought he was pretty funny, and I was a big fan of the Ocean’s Eleven movies where he played a prominent part. I also raised an eyebrow when I heard that he was only 50 because 50-year-olds do not typically die of pneumonia unless they are in some way immunosuppressed — either from medications or from some condition like HIV.

Even though it wasn’t the immediate cause of his death, Mac fought a poorly understood disease called sarcoidosis which may explain why he would be particularly susceptible to lung infections. Sarcoidosis is not something that most people have heard of, so I thought I would spend a little bit talking about it.


What is sarcoidosis?

To a pathologist, sarcoidosis triggers the following phrase: a chronic noncaseating granulomatous disease of unknown etiology.

Since there are likely very few words in that sentence that most of you understand, let me unpack it. Granulomatoses are diseases where you get bundles of scar tissue (granulomas) that form in various tissue and organs from immune activation. That activation can be the result of a persistent infection (for example, tuberculosis forms granulomas when the body tries to wall off the bacteria in the lungs), or it can be an autoimmune disease where the cause is unclear. Noncaseating is a technical term for pathologists meaning that it lacks necrosis (dead cells) on the insides of the granulomas. (Pathologists — in a particularly disgusting turn of phrase — say that the necroses look like cheese — hence the term caseate. I know…gross. Nothing would make me cringe in school more than when the pathologists compared diseases to food.) Sarcoidosis particularly is characterized by granulomas that do not have dead cells inside them — as opposed to disease likely tuberculosis which often do. This pathological finding is critical for diagnosing the disease (see below).

The “chronic” and “unknown etiology” part suggest that people who have this disease have these granulomas growing in them for long periods, and we do not know exactly why. The bad parts of the disease are caused when the granulomas obstruct the normal functions of whatever organ they are in. Etiologically, we think that this is an autoimmune disease caused by an unnecessary immune response, but past that we really don’t know.

What is the presentation of sarcoidosis, and how is it diagnosed?

The granulomas in sarcoidosis can grow in basically any organ system, so a patient could come into the hospital complaining of a variety of different symptoms. For example, if the granulomas were growing in the brain, the patient might complain that they are having trouble seeing. Since the granulomas can be anywhere the presenting symptoms can be quite variable.

The most common presentation is someone coming in with trouble breathing or coughing up blood. This is because the most common organ that the granulomas grow inside is the lungs. The granulomas block airways and can break blood vessels. (Also, from time to time you can catch sarcoidosis before these symptoms appear because you can see the granulomas on a chest x-ray.)

If someone comes in coughing up blood, one of the first things you would do is order a chest x-ray. It is likely but not certain that you would see something funny going on there. Then in order to diagnose sarcoidosis, you would also have to rule out that there wasn’t some sort of infectious disease like pneumonia — usually by taking a culture of sputum. These are the types of tests you run preliminarily when someone comes into the ER with a lung complaint.

However, the gold standard test for sarcoidosis is a biopsy of the organ involved. A pathologist will take sections of that biopsy and look at them under a microscope. He/she is checking for the noncaseating granulomas that I talked about earlier. If they see them, then sarcoidosis is a likely diagnosis. (Off the top of my head I can’t think of other things with that pathologic finding, but someone else who knows might be able to tell you.)

What is the incidence and clinical course of sarcoidosis?

With autoimmune diseases, the course is always a crap shoot. Some people go into remission, and they never have trouble again. Some people have very serious complications very quickly. Some people fight it their entire lives. Death can be caused by organ failure such as when the lungs scar so much they don’t work anymore (pulmonary fibrosis). About 2/3 of people with sarcoidosis have it clear up spontaneously.

That being said, African Americans have about a four times greater risk of sarcoidosis. We think that this is because some African Americans have HLA types that place them at greater risk. (HLA genes are genes on the surface of cells that the immune system uses to distinguish self from non-self. If they are not working correctly, the immune system may confuse a self-cell with a foreign pathogen, causing an autoimmune disease. Some versions HLA genes are more prone to this than others.) Also, for reasons that are unclear, African Americans tend to have a more serious disease course than Caucasians.

The prevalence of sarcoidosis is pretty rare: about 10-40 cases in 100,000.

How is sarcoidosis treated, and what was the deal with Bernie Mac?

Because sarcoidosis is an autoimmune disease the go-to drugs are steroids (like prednisone) and immunosuppresants (like methotrexate). Both drugs will suppress the immune system and slow the formation of new granulomas.

Unfortunately whenever you are suppressing the immune system, it also renders the individual vulnerable to infections. Though I have no idea what medication Mac was on, I suspect that this was the problem. If he was on drugs like these, you can run the risk of getting serious infections like pneumonia. From what I understand too, his sarcoidosis had not been a problem recently, so the issue with his health was probably related to the drugs alone.

It is a difficult cost-benefit for anyone trying to treat this disease. On the one hand, you want to ensure against new flare-ups. On the other, you have to be very careful of infectious disease. Particularly when the disease hasn’t been active in a while, this is a tough line to walk.

Still a sad, sad end to a wonderful career.


Anyway, that is all that I can think of about sarcoidosis at the moment. If you would like more information, this site at eMedicine was the best I read. Feel free to add questions in the comments, and I will see if I can find answers.

Comments

  1. #1 Mick
    August 14, 2008

    Great post, Jake. It’s posts like these that make me want to go to medical school.

  2. #2 arby
    August 14, 2008

    Thanks. Gonna miss him. rb

  3. #3 chezjake
    August 14, 2008

    Nicely explained. Thank you.

  4. #4 John
    August 14, 2008

    If you watch the TV show House on Fox, it comes up as a possible diagnosis all the time. That isn’t what it usually is, but it always comes up!

  5. #5 joyce
    August 14, 2008

    My mom has this disease, and i sm concern especially since the death of Bernie Mac. Her symptoms are weight loss and weight gain (flutates), constant coughing some with phelm but clear. She is always fatigue.

  6. #6 PaulM
    August 15, 2008

    The death of Bernie Mac has really brought sarcoidosis into the news, and I’m seeing plenty of horror stories about people’s experiences with the condition. Just thought I’d comment that it isn’t always so serious.

    I was diagnosed with sarcoidosis in February of this year.

    Jake is correct in saying that this can cause all sorts of symptoms. My own case was diagnosed after I had not been feeling well for quite some time (lost 10kg in six months because of zero appetite) and my GP ran some tests. Turned out I had acute kidney failure, which was a bit of a surprise.

    One of the complications of sarcoidosis can be hypercalcemia, which in my case was what caused issues with my kidneys. It took a week in hospital and more tests than was comfortable to confirm the diagnosis.

    I responded immediately to the medication (prednisone), and the only problems I’ve had since leaving hospital are those caused by the medication itself, but they are tolerable, and for the last month or two have largely disappeared as well.

    In the end my kidney issues may have been a good thing as it allowed a diagnosis before my lungs were damaged. Even though my CT-Scan showed granulomas in my lungs, my lung-function is apparently around 110%, so there’s no problem there.

    For people who would like a detailed overview of the condition here’s a link to a journal article I found via PubMed when I was diagnosed:
    http://www.ojrd.com/content/2/1/46

    If anyone has any non-technical questions they can post them here and I’ll see if I can answer.

  7. #7 Robbo
    August 15, 2008

    Great post. You have to love the exactness of medical terminology, even if explaining a very “un-exact” condition.

    It is not until you work with remote indigenous populations that you see that death from pneumonia is of much greater concern than the “real” world

  8. #8 Julie Stahlhut
    August 15, 2008

    Great post, Jake.

    A friend’s wife died from sarcoidosis-related lung problems a few years ago, and the husband of a former co-worker of mine was, last I heard, living and coping with various chronic problems caused by the disease.

    BTW, given that in the U.S. the disease is more common in African Americans, what, if anything, is known about the prevalence of sarcoidosis in sub-Saharan Africa?

  9. #9 Liz
    August 15, 2008

    Thanks for the great post! I did wonder about sarcoidosis when I saw it mentioned in Bernie Mac’s obituary.

  10. #10 Toby
    August 15, 2008

    Jake, you “unpack” information very well. I waded through tons of material in 2005 when I was diagnosed with Sarcoidosis and there you go, putting it all together so nicely in a nutshell.

  11. #11 Mary Parsons
    August 15, 2008

    Hot on the heels of the announcement of the death came this piece of nonsense from He Who Shall Not Be Named for Fear of Raising Orac’s Blood Pressure.

    Sadly, comedian Bernie Mac has passed away while being treated by doctors. At the young age of 50, there’s no reason he should have died so early… Except that doctors previously suppressed his immune system with powerful medications, and yesterday, his immune system was unable to fight off an infection that took his life.
    We’ll all miss Bernie Mac’s comedy and charm. It is sad that conventional medicine never told him about the natural treatment options that could have given him another 20 – 30 years of quality life. Read more details on this breaking news in today’s story: http://www.naturalnews.com/023817.html

    Do not read that link if the following makes you see read because it gets a lot worse.

    Bernie Mac was described as having his sarcoidosis go into “remission.” That’s conventional medicine’s code word for masking symptoms with dangerous chemicals while ignoring the underlying cause of the disease.
    “Sarcoidosis,” meanwhile, is just a fancy-sounding name for an out-of-control autoimmune response caused by an imbalanced immune system which is disrupted by dietary imbalances and exposure to toxic chemicals…

  12. #12 PaulM
    August 15, 2008

    Julie: I live in sub-Saharan Africa (Cape Town), but not being a black African I don’t think I’m the demographic you’re looking for. :-)

    Mary: Yes, that link was rather annoying. The stupid is almost physically painful. That’s actually the first time I’ve seen the woo-practitioners spouting off about something I’ve got myself.

    I’m seeing my Pulmonologist on Wednesday for a checkup, if I get the chance I’ll see what he has to say about this type of article. He’s probably already aware of this sort of claim; when I was in hospital earlier this year I spoke to him about people who use the Internet to find out about their conditions, and he said that these days he and his colleagues keep track of online information so that they know what sort of questions their patients will ask.

    I think that’s a good thing.

  13. #13 Feynmaniac
    August 15, 2008

    @John,

    Lupus also tends to come up alot in House.

  14. #14 Andrew Blakeslee
    August 15, 2008

    Jake – That was definitely one of the most informative posts I have read on sarcoidosis. I had one of the rarer occurrences of the disease, cardiac sarcoidosis. It caused a 100% heart block in 1997, and then heart failure (EF 12%) in 2004. Sarcoidosis wasn’t suspected until it showed up in my lungs in 2005. It was finally confirmed when I received my heart transplant last October and they did the pathology on my sarcoidosis-ravaged old heart. I personally think that sarcoidosis is under-diagnosed – both in the lungs and in the heart, probably because it is so hard to detect. While I was waiting for my new heart last year I invented a new logic puzzle similar to Sudoku (but much more fun!) called Trizm Puzzles. I am hoping to use proceeds from the puzzle (if there ever are any) to fund research into sarcoidosis, heart failure and heart transplants. Check out my website for the rest of my story and give the puzzles a try while you are there – http://www.trizmpuzzle.com

    Andy

  15. #15 D
    August 16, 2008

    John and Feynmaniac –

    Don’t forget amyloidosis.

  16. #16 Hilary
    August 18, 2008

    I just took a derm final this morning, and sarcoidosis was one of the many conditions that was covered.

    I totally agree that references to food are nauseating when compared to medical conditions or anything in medical school. I used to stop any comparisons to food at the gross anatomy table. Please. Spare me. I love food.

  17. #17 PaulM
    August 20, 2008

    Well, as mentioned earlier in these comments, I saw my Pulmonologist today, and got a chance to chat with him for a bit.

    Julie: According to my doc the rate of sarcoidosis within sub-Saharan Africans is the same as those for African Americans. No surprises there really, but it’s nice to have confirmation. He also said that for mixed-race South Africans the rate was about halfway between black and white South Africans, but seeing as many mixed-race South Africans also have some Malaysian ancestry they have susceptibility to other lung conditions.

    He was also aware of some of the online nonsense about Bernie Mac’s death, but it wasn’t anything he hasn’t heard before. He mentioned at least one occasional patient of his who is attempting to treat his sarcoidosis with a change in diet in an effort to avoid taking prednisone. This person is apparently feeling better (good nutrition helps everyone) but it isn’t affecting his condition, and seeing as he has the same kidney issues I did he’s at risk of destroying his kidneys. As my doc says, if that happens he’s going to end up taking scarier drugs than prednisone.

    Anyway, my own checkup was excellent. Lung function is now up to 118%, and I don’t have to see the doc again for another six months. Still have to take prednisone until then though.

    Damn you science-based medicine for putting me on the path to wellness! :-)

  18. #18 Shirley Moore
    September 4, 2008

    I was diagnosed with sarcoidosis in 1997. It started with flu-like symptoms. The doctor initially thought it was pneumonia. After several chest x-rays and bedrest, weekly doctors visits. No confirmed diagnosis. I actually had a biopsy that confirmed by diagnosis. I just recently came out of remisson in the last couple of months.

  19. #19 Dana
    March 21, 2009

    Thank you for writing this. My mother passed from sarcoidosis and it’s been difficult to wrap my mind around what happened and why – this explanation helped.

  20. #20 Jane
    June 3, 2009

    It took nearly a year for my sarcoid to be diagnosed. We were with an insurance company that had no specialists. The hospital would not release records to the Pulmonary/Critical Unit at a University Hospital. I had lost over 50% of my lung function and an eye doctor who I went to after my cardiologist brother in SanFran told me to look up sarcoidosis. Our neighbors a few streets away were both pharmacists and lent me the books. It is my understanding that Scandanivian people are very prone to sarcoid. My OB/GYN doctor came from Sweden and confirmed this.

  21. #21 Jane
    June 3, 2009

    I am originally from Westchester County in New York. The doctor who followed up parts of my care was Dr.Ianuzzi who left Henry Ford Hospital in Detroit for Mt Sinai. I was initially diagnosed in Ann Arbor where I have my graduate degree from. Lyme disease made me contact the Wayne County Medical Director. I had picked this up in Armonk, NY and was immediately seen by my mother’s physician. It was not as prevelant at that time but our Medical Director and his staff spoke with me about the symptoms. It was this gentleman who called Michigan for me to go in the “back door.” The insurance company gave me the $8000.00 bill. The Human Resources Director and Company Doctor refused to look into this after the state tried to intercede. Unfortunately a large CT based insurance company commented that no contract was for a company HMO in Michigan. They threatened that they were going to take action against the state. After trying to go higher up, I learned that one of a Board of Directors Officer was the President of this CT insurance CO.

  22. #22 flavials
    June 3, 2010

    Hi, thank you so much for the post.even so long later. I have been dealing with doctors for the last year and a half and finally they gave the diagnosis of chronic meniningitis, possibly neurosacoidosis.but I really believe now it is neurosarcoidosis. Are u done with school by now? june 2010?

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