Prolonged Diagnostic Limbo
Diagnosing mastocytosis is a very difficult matter.
It is not uncommon for patients to be left in “diagnostic limbo” for decades and being mis-diagnosed several times during their lifetime, before eventually a mast cell disorder is finally declared.
Of course, during these decades, mastocytosis keeps progressing over time and patients are meanwhile being treated for misdiagnosed disorders they do not have, with treatments that obviously fail to cure them.
Here's how Dr. Afrin, a world class expert on mast cell disorders, qualifies the problem:
As just one example, I can’t begin to count the numbers of patients I’ve seen in that time who’ve had “anemia of chronic inflammation.” Mysterious anemia, nobody knows why, no clear source of the chronic inflammation, and we just leave it at that.
And it’s acceptable in the medical community to just leave it at that. For lots of reasons (many relating to our healthcare financing systems), the physician can’t spend nearly as much time with each patient as would be needed or desirable to get to the root of every mystery.
So the hematologist sees the anemia, the gastroenterologist sees the irritable bowel syndrome, the rheumatologist sees the fibromyalgia, the cardiologist sees the palpitations, the neurologist sees the migraine headaches and neuropathy, and so on and so forth.
We all just constantly miss the elephant.
Heterogeneity of Symptoms
That's the problem, right there!
You'll often read in the medical literature that mastocytosis presents an “heterogeneity of symptoms”. That means that the symptoms are diverse in kind or nature, composed of diverse parts, or resulting from differing causes.
The symptoms are also contrarian, the same cause having a different effect.
Want examples of the contrarian nature of mastocytosis symptoms? Well, here are a chosen few:
- Patients can have high blood pressure andlow blood pressure.
- They can have sweats and colds.
- They can exhibit too many red blood cells or too few red blood cells.
And the contrarian list goes on and on.
Also, if you stopped by the Symptoms list before arriving here, you now know that the mastocytosis symptoms are all over the place. There are, literally, hundreds of symptoms if you consider their different combinations.
And to make matters worse, the symptoms overlap with similar symptoms of other afflictions.
As if it were not enough, the symptoms presented by mastocytosis patients are very diverse, occur in different episodes throughout the patients life, are waxing-and-waning, repetitive but not necessarily over a contiguous period of time and varying in intensity. Sometimes, some symptoms will go into complete remission, only to come back after a while.
And lastly, many clinicians are unfamiliar with the disease and thus may fail to consider the diagnosis. Even when mast cell disease is suspected, testing for the condition can be falsely negative as a result of technical problems.
An Extreme Case?
Here is the case of Yasmina Ykelenstam, which you can read on her site thelowhistaminechef.com:
The emergency room became my second home: multiple anaphylactic and heart attack like symptoms, two operations (one of which proved completely unnecessary). I was told I needed another six, which I refused. I grew more alarmed with each negative result, believing for many years that I was in fact dying.
Diagnosed with histamine intolerance (HIT) in 2010, I’ve just recently (in March 2013) been diagnosed with Mast Cell Activation Disorder by Dr Matita (under Dr Luis Escribano) in Toledo, Spain.
This isn’t a progression of my condition, but rather a clarification, as I’m certain that’s what I’ve had all along. I have the anaphylactic episodes to prove it.
Extreme? Perhaps … After all, Yasmina is suffering from MCAS, which is mast cell dysfunction which is even more difficult to diagnose than mastocytosis, because the criteria have not (yet) been set by the WHO, unlike the case for mastocytosis.
But here are some words from Dr. Sibbald, a Canadian expert of mastocytosis:
And here are some remarks from Dr Afrin, which refer to MCAS but equally apply, in my opinion, to mastocytosis:
They accumulate large problem lists, and after they figure out, after about 2-3 years of symptoms, that their symptoms aren't going to kill them, and they've learned that no doctor is going to be able to figure out a diagnosis, they stop reporting their symptoms.
They may well continue to regularly suffer a wide range of symptoms, but they simply stop volunteering such information to the clinicians they see, because such abnormality has become their new normality.
So it really is critical, in trying to clinically detect whether mast cell disease might be present, for the clinician to take the time to take a complete review of systems.
A ‘Rare’ Disease
The trouble is, there are not many doctors who have the necessary expertise, patience or time to go through that complete review.
So, patients are misdiagnosed.
So, mastocytosis is not reported.
So, mastocytosis is still deemed to be a ‘rare' disease.
And, in closing, here's what the Mastocytosis Society Canada says:
Yes, I Know …
I did say ‘in closing' on the previous paragraph.
But I thought I would add what, in my opinion, is quite a sober but positive message about living with mastocytosis.
Life is worth living.
Even with mastocytosis.