Mast cell activation syndrome. Mast cell activation disorder. Mastocytosis.
This is a set of difficult rare diseases that I am going to endeavour to do justice.
Miss 4 has MCAD. As do several other children I know. It is relatively unknown even by doctors, very difficult to diagnose, and even more difficult to manage.
It is associated with many of the other allergy conditions I have posted about, as well as some connective tissue disorders I will get to posting about as soon as I can.
Systemic mastocytosis is a life-threatening auto-immune and allergic condition. It occurs when the mast cells that make up part of a person’s immune system are found in huge numbers in lots of organs of the body. Their presence and reactivity causes reactions and potential organ damage and failure. There are a myriad of symptoms associated with the condition of course, as it depends on the organs affected. Anaphylaxis is common in these patients as their immune system is so overactive and easily triggered. For more information about this complicated disease please reach out to me.
Let’s move on to talk about Mast cell activation syndrome/disorder.
This group of patients generally has over-active mast cells. So these cells are super sensitive, and are turned on by things that they shouldn’t be. The list of triggers is different for everyone, but some common triggers are heat, cold, stress, sunlight, chemicals, food additives, foods high in histamines and the list goes on.
Reactions can occur in different systems of the body, either one system, or multiple systems at the same time. Skin rashes, stomach problems, bone pain, heart changes are just some of the symptoms.
In our case Miss 4 gets flushed, rashy cheeks, all over body rashes, asthma symptoms, bone pain, excessive sweating, stomach pain, nausea, vomiting, diarrhoea, hay fever symptoms, irritability and more. More things basically trigger her mast cells than I could list and then they send signals to her body that there is an invader and it should protect itself. Her immune system goes into overdrive and the symptoms appear.
So how is it diagnosed?
Blood tests and biopsies are possible but often inconclusive. They need to be done during a reactive period. Another way of diagnosing is to medicate the person with something to stabilise their mast cells and see if their condition improves. It can take a long time to get a diagnosis, and there are very few doctors who know enough about this to do so.
How is it treated?
Patients are generally given a cocktail of medications to calm their mast cells down and threat their symptoms. A lot of these patients carry EpiPens as they are at risk of anaphylaxis. They then take a combination of types of antihistamines and mast cell stabilisers daily. Adjustments to diet and environment can help these patients also.
This is a relatively new area of medicine that is not yet well understood. Currently there is research being done mainly overseas into these conditions. Awareness is very low, and these people are often misunderstood, even by medical professionals, which can place them in real danger of becoming very unwell.
Please reach out if you would like more information. If you suspect your child may have MCAD I can put you in touch with the best doctors to explore the possibility properly.