MCAS // Diagnosis
Mast Cell Activation Syndrome is a complex disease with hundreds of fluctuating symptoms that mimic many other conditions. Diagnosis requires a tricky combination of precise timing, expert medical knowledge and specialist laboratory testing. Diagnosing MCAS is tricky, but certainly not impossible. Here’s what you should know.
Things you should know
I’ll be straight up with you - diagnosing MCAS is difficult and a lot of people find the process agonising. Much of the frustration (for Doctors and patients) is that MCAS poses some distinct challenges that aren’t apparent until you’re heavily invested in the diagnosis process.
Here are a few sticking points you should know about before you enter into the diagnosis process…
01.
MCAS mimics other conditions
MCAS can affect multiple parts of your body simultaneously and generate an extremely wide variety of symptoms, many of which genuinely look like other conditions.
Excessive mast cell activation in the skin for example might appear to be urticaria, whereas activation in the gut might look like a case of Irritable Bowel Syndrome (IBS) or acute food poisoning, in the brain - migraine, and in the autonomic nervous system - generalised anxiety disorder (GAD). It’s almost impossible, particularly in the early stages of MCAS, to tell it apart from numerous other conditions.
This is why MCAS is often referred to as “the chameleon condition”.
02.
MCAS can be episodic
MCAS symptoms are numerous and highly varied, often appearing and disappearing without any discernible pattern. This makes it really challenging to capture them in clinical assessments and laboratory tests. For example, people with MCAS may experience severe symptoms such as skin rashes, vomiting, and difficulty breathing, only for these symptoms to vanish by the time they reach a hospital.
03.
Lab testing is complicated
Laboratory testing is a key part of diagnosing MCAS. Frustratingly though, these lab tests are generally expensive and unavailable to most hospitals and clinics as they require specialist equipment and technicians to carry them out.
To add insult to injury, the samples required to test for mast cell activation are often difficult to obtain and/or incredibly sensitive to temperature meaning they require specialist storage and transportation. If the samples are not obtained, stored and transported correctly the tests are invalidated or worse, false-negative results are given.
04.
Doctors may not know MCAS
Mast Cell Activation Syndrome is still regarded as a newly recognised disease which means the vast majority of Doctors won’t have heard about it (yet). This sadly means that MCAS won’t be on their radar and they won’t be looking for it, even though they’re undoubtedly seeing patients who have it.
05.
The NHS refuses to recognise MCAS
This point pains me more than any other. I’m sorry to say that if you live in the UK, the National Health Service (NHS) outright refuses to acknowledge Mast Cell Activation Syndrome as a disease - this is despite growing scientific evidence, expert opinions, numerous patient cases and recognition by the World Health Organisation (WHO). And by “refuses to acknowledge” I mean the organisation wilfully refuses to discuss MCAS with patients or journalists, or acknowledge its existence via any formal channels. You may be lucky to find an NHS Doctor willing to engage with you re MCAS but, generally, off the record.
Diagnosis Options
Option 01. // Public Healthcare
Generally speaking there are two options for diagnosis. Option one is via public healthcare services. In many countries these services will diagnose MCAS though, as you can imagine, due to pressures on resources and financial constraints, a diagnosis is likely to be more difficult and take longer than via private healthcare providers.
If you live in the UK, the public healthcare route will fall within the NHS and, as noted above, is unlikely to yield a diagnosis (though there are reports of some NHS trusts diagnosing a handful of cases).
Option 02. // Private Healthcare
If you’re fortunate to have access to private medical care, the private sector, which typically has greater access to specialist testing facilities (and deeper pockets), is generally better equipped to diagnose complex conditions like MCAS.
As the NHS refuses to officially recognise MCAS, the vast majority of cases in the UK are currently diagnosed via private healthcare services.
The Diagnosis Journey
While there’s nothing typical about MCAS, there are a few stages on the route to diagnosis you’re likely to pass through. Below is a drastically simplified summary of what you might encounter. Just remember that your diagnosis journey is just that - “yours” and may end up looking very different.
Step 01. // Speak with your Doctor
If you suspect you might have MCAS your first port of call will be your family doctor (GP). It’s really important to keep an open mind at this stage and let your Doctor ask questions and explore your concerns.
Step 02. // Rule things out
Before your Doctor can refer you to a specialist they’ll likely need to spend some time ruling out the more obvious causes of your symptoms. Yes, this stage can be incredibly frustrating but it’s really important and helps ensure you’re referred to the right specialists later on.
Step 03. // Referral to a specialist
If your symptoms persist and other conditions have been ruled out of the picture, your family Doctor (GP) will likely refer you to a specialist. Which specialist you’re referred to will depend on a number of factors including your own Doctor’s assessment, your symptoms and which services are available to you.
In some cases, you may be able to choose which specialist you’re referred to.
Step 04. // Meet with your specialist
Having been referred to a specialist who can (hopefully) help you, they’ll likely ask you about your symptoms, take a detailed medical history and may conduct an examination. Depending on their assessment they may order further tests.
Step 05. // Test, test, test
If, after their assessment, your specialist feels MCAS may be a culprit they’ll order one or more of tests listed in something called “The Consensus Criteria’. These are typically a combination of blood and/or urine tests though in some cases your consultant may want to take a tissue biopsy. Many of these tests can be tricky to carry out and may need to be conducted more than once, so, as difficult as it is, hang in there and try to be patient at this stage.
Step 06. // Diagnosis
If, and it’s a pretty big ‘if’, your test results are positive and your consultant feels they indicate your mast cells are the root cause of your symptoms they may then diagnose Mast Cell Activation Syndrome. In some cases they may want to conduct further tests and/or start you on mast cell medicines before confirming an MCAS diagnosis.
Diagnostic Criteria
An MCAS diagnosis is typically made according to one of two sets of clinical criteria. While there are similarities between them, there are also distinct differences which can significantly influence how you’re diagnosed, how long it takes - or if you receive a diagnosis at all.
It can be really helpful to understand the criteria, and the politics that go with them, before you speak with your Doctor.
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