A ? About Mast Cell Disorders,

[anna]

My daughter gets bouts of an extra swollen throat, it comes out of the blue and make breathing more difficult, last night the poor thing texted me to say her throat was big again and her mouth and tongue were felling odd. She took a prescription antihistamine (Allegra) which she was given for this issue, by one of her GP's and she later let me know that her throat and tongue felt better, thank goodness.

The thing is does this sound like it could be MCAD related, one of my boys also gets similar issues?

My daughter has had bouts of strep throat, tonsillitis, chest infections and so on for the last 2 years as well and her GP's just keep saying she needs her tonsils out and she will be fine!! My daughter is 20 by the way and has had one enlarged tonsil since she was 2/3 years old, so we do not think her tonsils are the real problem.

[anna]

Oh yes does this problem Exercise-induced anaphylaxis have anything to do with MCAD:

http://emedicine.medscape.com/article/886641-overview

As my son can have an odd mouth and or swollen face, after heavy exercise sometimes.

[anna]

Sorry but any one any ideas what might be going on!

[juliegee]

Hi Anna-

I just saw your post. SCARY episode with your daughter- sounds like early anaphylaxis. Have your children had any traditional allergy testing (skin scratching) done? That's a good place to start. They may be suffering from traditional allergies. Identifying them, and avoiding them may be hugely beneficial.

If that turns out negative OR if symptoms persist when they haven't been exposed to their known allergen; MCAD should be suspected. It does tend to be familial and overlap with dysautonomia and connective tissue disorders. Oh dear , I just saw your signature- the kids ALREADY are Dxed with EDS and dysautonomia. I'd check in with the allergist pronto- if you haven't already had testing done.

Your kids are very lucky to have such a smart & savvy Mama. Here is a link to an International Yahoo Group for patients with (or who suspect they have) all three DXes: http://uk.groups.yahoo.com/group/theelephantproject/

Keep us posted on what you find out.

Hugs-

Julie

[anaphylaxing]

Sorry to hear this, I agree with Julie!

I also have ED/POTS/MCAS

[blueskies]

Macks Mum and anaphylaxing, could you please tell me how your mcas/mcad manifests. And how do you deal with those symptoms.

Thank you,

blue

[anna]

Hi folks thank you for your response, I have told my daughter to get to her GP and try and get referral to the Allergy/Immunology clinic, it is just one thing after an other!!!

[issie]

Seems to have a connection strongly with us with EDS, MCAD and POTS. There are studies showing connections.

[juliegee]

Hey Blue-

Good question. Mast cell disease has many different presentations, but they are easily identifiable, once you familiarize your self with symptoms. Here is a blurb from the old Mastocytosis Society website that should answer all of your questions.(Their new site is under construction.)

What is Mastocytosis or Mast Cell-related disorder?

According to Merriam-Webster Online, mastocytosis (pronounced mas•to•cy•to•sis), means an "excessive proliferation of mast cells in the tissues." (Retrieved 4/6/09 from http://www.merriam-w...al/mastocytosis.)

Mast cells are something that are produced naturally in every body, necessary to assist the body in fighting possible foreign threats to the system. Individuals with mastocytosis have an abundance of mast cells and the mast cells do not work properly in reaction to a trigger, sometimes unknown.

In the early to mid-20th century, all forms of mast cell disease were undifferentiated and were grouped under the name mastocytosis. Mastocytosis specifically means "an abnormal increase in the number of mast cells," but we now know that definition, taken from the root words, relates to some very specific mast cell disorders, and may not apply to others. Some of the research done in the latter part of the 20th century laid the groundwork for much of the work done today. Over the last 30 years, there has been an explosion of interest in, and research into, the various mast cell diseases, resulting in many different categories being defined, and the definitions are still evolving.

So, for the purposes of this section, we will refer to the general term mast cell diseases which encompasses the following very general subcategories*:

• Cutaneous Mastocytosis, refering to the skin, including
  
  • Urticaria Pigmentosa, refered to as UP, relating to hives and skin lesions
    
  • Telangiectasia Macularis Eruptiva Perstans, refered to as TMEP, relating to a rare form of the skin disease, most often occuring in adults, and consisting of generaly smaller lesions than are typically seen in UP
    

• Systemic Mastocytosis, involving more than one (1) organ (skin, gastro-intestinal, liver, etc.), with or without cutaneous manifestations outlined above, including
  
  • Indolent Mastocytosis, relating to slowly developing
    
  • Aggressive Mastocytosis, as it suggests, more aggressively developing
    
  • Mastocytosis with associated hematologic disorder
    
  • Mast Cell Leukemia
    

• Mast Cell Activation Disorder or Syndrome, referred to as MCAD
  

• Pediatric mast cell disorders typically include the following
  
  • Solitary Mastocytoma, as it suggests, a solitary or single "clump" of mast cells or lesions
    
  • Urticaria Pigmentosa (explained above)
    
  • Diffuse Cutaneous Mastocytosis, as it suggests, diffuse skin involvement of hives and lesions
    

It is less common for children to suffer from systemic symptoms, but there are a number of cases. In 2000, at a meeting in Vienna, Austria, a consensus was reached about what criteria must be fulfilled for a diagnosis of Mastocytosis (see our Research article entitled A Consensus Document for more information). Many people met the new criteria. However, many patients who had been formerly diagnosed with Systemic Mastocytosis did not seem to fit into the agreed-upon criteria, possibly because their diagnostic work-up was done incorrectly, or was not conclusive, or because they were not tested for all the criteria. Over the last few decades, some researchers began differentiating between the different forms of mast cell diseases. A few began individually defining new categories, one of which is called Mast Cell Activation Syndrome or Disorder (MCAS/MCAD). Although the various forms of mast cell disease may present with some of the same symptoms, and may be treated with the same medications and avoidance of known triggers, the cause of the symptoms is what makes them separate, but related, entities. Indeed, mastocytosis and other mast cell disorders are heterogeneous, meaning they can present in many different ways. Ultimately, the cause of each different form of mast cell disease may dictate how they are treated.

What are the Symptoms of Mast Cell Diseases?

What we know about Systemic Mastocytosis is that in many cases, it is a neoplastic disease, meaning that it involves new or abnormal cell growth. (Please note - this may not apply to most cases of pediatric and/or familial Mastocytosis.) In this case, the cells involved are mast cells, which are normally contained in body tissues. Mast cells release certain mediators, or chemicals, of which one is histamine, into the body in response to certain events. People with Systemic Mastocytosis develop an increase in the number of mast cells, or they develop abnormally shaped mast cells, which may not function properly. In addition, the mast cells fail to die off when they are supposed to, further increasing the total mast cell burden. This die off is called apoptosis. Apoptosis is programmed into normal cells, but in people with mast cell disorders, the mast cells may fail to die off, resulting in an increased number of mast cells in the body. When these mast cells are triggered, they can degranulate, and release their contents all at once, or they can slowly leak their contents in response to a trigger. This can cause many acute and potentially serious symptoms, which include, but are not limited to, the following:

Abdominal pain Anaphylaxis Blood pressure changes & shock Bone pain (mild to debilitating) Chest pain Cognitive difficulties/brain fog Degenerative disc disease Diarrhea Dizziness/vertigo/lightheadedness Faintness Fatigue Flushing Gastroesophageal reflux Hematological abnormalities Hives & other rashes Inflammation of the esophagus Intestinal cramping and bloating Itching, with and without rashes Irritable bowel Liver, spleen and other organ involvement Malabsorption Migraine headaches Muscle pain Nausea Osteoporosis/Osteopenia Peripheral neuropathy and paresthesias Rapid heart rate Vomiting

People who have been told they have Mast Cell Activation Syndrome or Disorder (MCAS/MCAD) may have a normal, or nearly normal, number of mast cells. However, their mast cells "behave badly" - that is, they are easily triggered to release their contents, which results in many of the same symptoms that people with Mastocytosis experience. The danger of anaphylaxis and shock is present with MCAD/MCAS, but unlike Mastocytosis, this syndrome may not have the potential to progress to a more aggressive or malignant stage. Nevertheless, people with either Mastocytosis and MCAS/MCAD can be either very stable or extraordinarily ill on a day-to-day basis, and managing the unpredictability of the mast cell diseases and their symptoms can be quite challenging.

How Are Mast Cell Diseases Diagnosed?

Mast cell diseases can be diagnosed by:

• Skin biopsies
  
• Blood tests
  
• Bone marrow biopsy with aspirate flow cytometry
  
• Bone desity and bone scan
  
• Radiologic, CT scan
  
• Careful evaluation of response to treatment
  

For more information on how mast cell diseases are diagnosed, please review our consensus document.

How Are Mast Cell Diseases Treated?

While a few people manage to remain stable and healthy by avoiding dietary and environmental triggers, many people with mast cell disease take a medication protocol that involves some or all of the following:

• H1 blockers - antihistamines like hydroxyzine (Atarax®), diphenhydramine (Benadryl®), Doxepin®, loratadine (Claritin®), and cetirizine (Zyrtec®)
  
• H2 blockers - antihistamines like ranitidine (Zantac®) or famotidine (Pepcid®)
  
• Leukotriene inhibitors like Singulair®, Accolate®, or Zyflo®
  
• Mast cell stabilizers like oral cromolyn sodium (Gastrocrom®), cromolyn sodium nasal solution (NasalCrom®) or Ketotifen (Apo®-Ketotifen, Zaditen®)
  

In addition, many people require:

• Proton pump inhibitors like omeprazole (Prilosec®), pantoprazole (Protonix®), lansoprazole (Prevacid®)
  
• Inhaled bronchodilators such as albuterol (Ventolin®)
  
• Corticosteroids
  
• More aggressive forms of the disease may require the use of chemotherapeutic agents and/or cytoreductive therapies. Further information about the use of these agents in treating mast cell diseases can be found at cancer treatment centers.
  

Julie