Understanding Mast Cell Activation Disorders

Patricia Beggiato and her family run a restaurant in Washington, DC. About five years ago, their busy lives took a turn. “My husband always had allergies, heartburn and did not think that was anything to worry about. And then on July 10, 2010, he experienced what we thought was food poisoning after he ate shellfish and just never recovered.” During a vacation to Switzerland, he saw a doctor who suspected a mast cell disorder might be causing his symptoms. Mast cells, part of the body’s immune system, are packed with inflammatory chemicals that cause allergy symptoms when released. Mast cell activation disorders occur when the cells release too much of their contents. “The doctor there told us to find a doctor in the United States who could help us, and I thought, ‘Absolutely, no problem, I live in Washington, DC.’ But, upon returning, nobody would help us. My husband in the meantime could not eat, he couldn’t get out of bed, he had terrible pain, all over body rashes.” Eventually, they came to the National Institutes of Health, or NIH. Joshua Milner and Jonathan Lyons are physician-scientists at NIH’s National Institute of Allergy and Infectious Diseases. “My lab is very focused on finding answers about allergy by studying patients who have what look like genetic problems with allergy.” In the course of their work, the scientists had identified a different family with bad allergies and joint problems, including overly flexible joints. Multiple family members had these distinct symptoms, suggesting a genetic disorder. Interestingly, the scientists found that the affected family members all had a high blood level of tryptase, a marker associated with mast cell activation. It appeared that patients were inheriting tryptase elevations along with their symptoms. They have since identified other families with inherited mast cell activation disorders, including the Beggiatos, who participate in clinical studies at NIH. Patients may experience a range of symptoms, including anxiety; depression; irritable bowel syndrome, or IBS; chronic fatigue; feeling faint or dizzy; and chronic pain. Many, though not all, have high tryptase. Some patients experience symptoms from birth. Others, like Mr. Beggiato, develop them later in life, usually following a stressful event. Patricia Beggiato’s daughter Alessandra is one of several family members with high tryptase. “Basically, as long as I can remember, I’ve always had, you know, like random little things. I get allergies, get sick kind of easier, things of that nature. But nothing really major that sounded like it was anything different than normal.” Because the symptoms vary so widely in type and severity and can start at different points in life, mast cell activation disorders are difficult to recognize. “The frequency of mast cell activation disorders in general is likely largely underestimated in the general population. The frequency of high tryptase is really between three and seven percent.” “A lot of folks who have this are walking around and suffering and being told, ‘It’s all in your head.’ So here’s a real opportunity for us to show that, sometimes, when that happens, we can really find a genetic explanation for what it is that’s going on.” So far, there are no specific therapies for mast cell activation disorders, although treatments can help
manage some of the symptoms. The NIH team is continuing to gain expertise by studying affected families. “We now have what appears to be at least 40 families, with over 135 affected and unaffected family members.” The scientists are performing genetic analyses to pinpoint key differences between affected and unaffected family members. “By finding that, hopefully, that would be something that we could target. That change in their DNA may give us the answer to what to do about the problem, not just, ‘Oh, that’s why they have the problem.'” “Just having NIH there, especially with an open mind, to help us has been… it helps me sleep better at night.”

29 Replies to “Understanding Mast Cell Activation Disorders”

  1. Omg this is EXACTLY WHAT IM GOING THROUGH! I've been going through this since I was 7 years old and it's only gotten worse I'm 25 now.

  2. I was diagnosed with EDS last month. Also, my IGG levels was 4976. Three of my children also likely have EDS. We all suffer from all of the symptoms in this video. My allergist thinks I have mast cell disorder. I go for blood work tomorrow morning. Any advice? My doctors are looking to my own research to navigate through the next steps 😔 I'm suffering. I need help

  3. The immune system is probably trying to fight something it can't quite get at,  e.g.  a chronic bacterial infection.  Barking up the wrong tree.

  4. welcome to being an American with a chronic illness. check for ehlers danlos as well. it could she your loved ones' lives.

  5. I wish I could find a doctor to diagnose me after all of these yrs of similar issues. I suffer with hand & feet redness/heat/swelling everyday after I eat and I get severe asthma attacks. My doctor has tested my blood for nearly everything but the results keep coming back within normal ranges. I have terrible IBS and skin rashes on my arms/neck/legs too. I was diagnosed with severe food allergies but avoidance diets haven't helped reduce my symptoms. Since I started experiencing these issues, I went from 138lbs down to 107lbs from not being able to eat in the past couple of years. My doctor finally told me last week that he is out of options and that these symptoms are probably just anxiety/stress related. I find it hard to believe that these physical food-related symptoms are just manifested in my head all these years. I was adopted from South Korea, so I don't have any knowledge of my own family medical history. It has become a living nightmare, but I am hopeful that this may be something similar to what I am experiencing.

  6. I have systematic mastocytosis I take sodium cromolyn and mix it with water, lots of zertec (generic works too) and montelkaust to help with breathing and head pains. Try getting your doctors to do blood test, bone density test, bone marrow test, and a 48 hour urine test. After that you should know if you have a mast cell disorder. Stay strong guys we will be ok 😊

  7. For example, Chlordane, a Pesticide termiticide manf by Genovique Specialties/Kodak is documented to cause Mast Cell Activation, it was commonly used to treat under homes. Mold and Trichothecene have also been implicated.

    Call Genovique to file a complaint 1 847 635 3430

  8. Mast Cell Activation is NOT always genetic!!!! I have it as a result of late stage chronic Lyme Disease. PLEASE educate people & bring awareness. My MCA could have been caught earlier. Feel free to email me…. [email protected] 😊

  9. Check out also for low dopamine in the brain. If you are a Highly Sensitive Person, you already have lower dopamine than others. Where there is low dopamine, there's more activation in mast cells. Treated with dopamine agonist (if you have low dopamine), antihistamines (H1, H2), vitamin D, (a small amount) injection of adrenaline under the skin of your belly. Occasional cortisone. Some also benefit from IV saline infusion, MCAS comes with dysautonomia. (You can also have EDS, if hypermobility is present)

  10. I was diagnosed with mass cell activation disorder last month, I’m receiving treatment and I’m finally starting to feel better, the internal and external hives are awful , I’ve had hives the size of baseballs in diameter all over my body , I have no family history of this illness either

  11. The hypermobility issue will pretty much solidify that you have Ehlers Danlos Syndrome. EDS is a collagen disorder, mast cells make up the extracellular matrix which is a bunch of collagen. Basic science says cells make up tissue which makes up organs, etc etc. So of course a connective tissue disorder will have connective tissue cells act up. So many people with Ehlers Danlos Syndrome are struggling to cope with all these symptoms because doctors keep recategorizing syndromes and disorders that tell the same story! I shouldn't have to spend money and time to go back and forth with doctors to find out I have EDS pots and mcads because some doctors think by diagnosing you with EDS it goes without saying you have pots and mcads, and other doctors think you have to be individually diagnosed. And then all the doctors argue over what to call your condition.

  12. 23 years of these symptoms and I just found out about MCAD/MCAS. Been in tears because everything matches up, my body is screaming to me that this is it, that my collection of chronic illnesses and pains over the years is finally being given a name! Just hoping my doctor will help once I can finally get to him.

  13. How do I get in touch with these people? I feel like I have my symptoms narrowed down to something like last cell disorder

  14. Has anyone had activation after trauma? I have lots of inflammation already from car wreck, then fell and got a compression fracture. The next day I developed uncontrolled asthma and was hospitalized a few days later.

  15. Those skin findings at 0:34 look exactly like mine :O I've had problems with anaphylaxis and all my IgE tests are negative and still I can't eat a lot of food items. Several Dr:s have put it down to histamine intolerance but to my knowledge there's no histamine in carrots or apples.

  16. It appears there's some confusion listed here between Ehlers-Danlos and Mast Cell Disorders. There's a very high comorbidity, but these are different disorders. Joint hypermobility belongs to EDS, which has some known pathogenic genes. I'm less sure about the genetics of Mast Cell Disorders but EDS and Mast Cell Disorders are still different and should not be confused with one another in the effort toward effective treatment and diagnosis.

  17. I've had these "invisible" problems all my life! Doctors act like they'll help, but no one does. I was finally diagnosed with EDS 2 years ago. I'm 59 and the pain has been chronic for over 2 decades. I hope you figure something out. I wish I could be part of your trials. Good luck to you!

  18. This can be diagnosed after several serious reactions or injuries to pharmaceuticals. Often food and chemical allergies are present or develop. So much is left out of this video! Many symptoms involved and can take MANY years to diagnose. Not an easy diagnosis at all.

  19. I'm diagnosed with Ehlers Danlos Syndrome and mast cell activation syndrome as well as postural orthostatic tachycardia syndrome. This looks exactly like my skin! I currently take cromolyn sodium oral, montelukast, ranitidine and loratadine. I avoid all my allergens food wise but still suffering terribly. At least the deep bone pain from MCAS has subsided on cromolyn.

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