So what is Mast Cell Activation Syndrome and what does it mean for me? Hopefully this post will be a good overview and explain what we are dealing with.
What are mast cells? Mast cells are a part of the immune system. They are made in the bone marrow and are located pretty much everywhere in the body. Each mast cell contains "mediators" which are chemicals that are released when the mast cells are triggered by something the body is allergic to or identifies as foreign. They are an essential part of the immune system and help defend the body against disease, aid in wound healing, repair blood vessels, and have many other protective roles within the body.
Sounds good so far, right? Everyone has and needs mast cells, including me. The problem I have (MCAS) is that my mast cells are not behaving properly. Like I said before, mast cells are located pretty much everywhere in the body. They are in especially high concentrations in areas where the body and the environment meet, such as the lungs (breathing air), the skin (touching things), the GI tract (eating food), etc. Normally, mast cells would sense something bad, react by attacking it with an immune response, and once the threat was neutralized, return to baseline. In my case, my mast cells are hyperactive. Think little boys at the start of a race and they are so eagerly waiting for the "GO" that they keep false starting. That's why my mast cells are doing. They keep jumping the gun and initiating a mast cell response at times when they shouldn't.
When a mast cell is triggered, it releases mediators into the blood. Some of the major mediators released are histamine, tryptase, prostaglandins, and leukotrienes. When they are released, these mediators attack the foreign invader to keep it from damaging the body. Once it is neutralized, the mast cells stop producing these mediators until the next trigger. However, in the case of MCAS, because the mast cells are triggering in response to things that are not legit invaders, there is nothing to stop the release of the mediators, meaning it continues until it turns into a full blown allergic reaction (potentially all the way to anaphylaxis) or is treated with mast cell stabilizing medications and allergy medication. Depending on the person, the triggers can be anything from typical food or environmental allergens (milk, wheat, smoke, etc.) to completely random things such as cold/heat, pressure, or vibration.
MCAS is not an auto-immune disease. Auto-immune diseases mean the body is attacking itself. My body is not attacking itself, it's just attacking everything I come in contact with...it's trying to be helpful! Yeah, no...
Anyway, because mast cells are located throughout the body, symptoms are multi-system and can be very different between patients. Often, MCAS patients are diagnosed with multiple conditions that seem slightly but not really related in the diagnostic process. Because symptoms can be so varied, patients may see multiple specialists that focus on their area of expertise. In my case, I was diagnosed with POTS and Reflex Syncope (RS) by a neurologist, Gastroparesis (GP) by a gastroenterologist, asthma by a pulmonologist/allergist, you get the picture. It wasn't until I saw a doctor who was familiar with more systemic conditions that we were able to pull all the pieces together.
I still have POTS and RS and GP, but they have become SYMPTOMS and not diagnoses in and of themselves. They describe the mast cell reactions that I may be having in different organ systems. Ideally as we find an effective treatment for MCAS, the issues I'm having in regard to these other issues will resolve as it is likely that MCAS is the cause of the POTS/RS/GP/etc.
So the big question...what does this mean long term? It means hopefully when we get to what would be considered "long term" I'll be doing way better than I am now because we will have figured out an effective treatment by then! =) But all kidding aside, it doesn't change much. There is no cure right now. However, there are numerous effective treatment options that I will be trying to find what combination works best for me. This will be something I will have to manage for the rest of my life, but it is not progressive or degenerative. It is likely that I will have periods of time where I am completely "normal" and have minimal symptoms (hopefully sooner rather than later!) and other times where my symptoms are a bit more severe and less controlled. The key will be identifying my triggers and managing my symptoms as best as possible. It will be a bit of trial and error until we find what medications are going to be the best for me, so it's still of a bit of a long road, but at least we know we are actually addressing the CAUSE and not just symptoms now.
I hope that answers a bunch of questions about what MCAS is and what that means for me and my family. Like I've mentioned many times, I'm not all of a sudden magically better. I'm still dealing with symptoms on a daily basis right now, but we are FINALLY moving forward however slowly that may be. If anything is unclear or you have more question, PLEASE ASK! I have no problem answering questions!