More Odd Conditions Added To My Sons List!

[anna]

Hello again,

Does any one know if allergic Eosinophilic Esophagitis has any thing to do with mast cell disorders?!! My sons Paediatrician thinks my son has this condition as his GI symptoms fit the profile for EE exactily. The thing is I wandered if EE might be some thing like Mast cell disorderds, as Eosinophilic cells cause inflamation as a response to an alergin!

anna

[firewatcher]

Eosinophilic esophagitis (EE) is a disease characterized by swelling of the esophagus (the part of the body connecting the throat and the stomach) caused by an allergic white blood cell, the eosinophil. Symptoms of EE can range from severe heartburn, difficulty swallowing, food impaction in the esophagus, nausea, vomiting and weight loss. There appears to be some age-related differences in symptoms, with younger children having more symptoms of weight loss, and older children and adults having food impaction and difficulty swallowing.

It is not exactly clear what causes EE, although this disease may be related to other allergic diseases, particularly asthma. People with EE frequently have a personal or family history of other allergic diseases such as hay fever, food allergy and asthma. Recently, there have been studies showing an association between food and environmental allergies and EE.

How is EE Diagnosed?

The diagnosis of EE is generally made by performing a biopsy of the esophagus, with evidence of eosinophils infiltrating the esophageal tissue. A biopsy is performed via endoscopy (a camera inserted into the esophagus), usually by a gastroenterologist. There are many other diseases that can cause eosinophils in the tissue of the esophagus, including gastroesopheal reflux disease (GERD), parasitic infections, fungal infections, inflammatory bowel disease, certain cancers, recurrent vomiting, and others. These diseases need to be ruled out before EE can be diagnosed.

Once EE is diagnosed, an allergist will typically perform extensive allergy testing, including looking for food allergies and environmental allergies, such as those listed above.

Eosinophilic Enteropathy

By Daniel More, MD, About.com

While this one does not directly address your son's dx, I am betting that allergies/MCAD does play an enormous part. The esophagus is very rich in mast cells and any trigger for degranulation is going to wreak havoc! Unfortunately, severe allergies and MCAD are so intertwined that it could be impossible to separate the two unless there is one specific allergen and your son reacts to ONLY that.

(there is another article in the Mast Cell articles post about mast cell degranulation of the esophagus causing non-cardiac chest pain)

Several esophageal pathologies are associated with an increased number of mast cells in the esophageal wall. We addressed the hypothesis that activation of esophageal mast cells leads to an increase in the excitability of local sensory C fibers. Guinea pigs were actively sensitized to ovalbumin. The mast cells in the esophagus were selectively activated ex vivo by superfusion with ovalbumin. Action potential discharge in guinea pig vagal nodose esophageal C-fiber nerve endings was monitored in the isolated (ex vivo) vagally innervated esophagus by extracellular recordings. Ovalbumin activated esophageal mast cells, leading to the rapid release of approximately 20% of the tissue histamine stores. This was associated with a consistent and significant increase in excitability of the nodose C fibers as reflected in a two- to threefold increase in action potential discharge frequency evoked by mechanical (increases in intraluminal pressure) stimulation. The increase in excitability persisted unchanged for at least 90 min (longest time period tested) after ovalbumin was washed from the tissue. This effect could be prevented by the histamine H1 receptor antagonist pyrilamine, but once the increase in excitability occurred, it persisted in the nominal absence of histamine and could not be reversed even with large concentrations of the histamine receptor antagonist. In conclusion, activation of esophageal mast cells leads to a pronounced and long-lived increase in nociceptive C-fiber excitability such that any sensation or reflex evoked via the vagal nociceptors will likely be enhanced. The effect is initiated by histamine acting via H1 receptor activation and maintained in the absence of the initiating stimulus.

2007: Yu Shaoyong; Kollarik Marian; Ouyang Ann; Myers Allen C; Undem Bradley J

Mast cell-mediated long-lasting increases in excitability of vagal C fibers in guinea pig esophagus.

American journal of physiology. Gastrointestinal and liver physiology 2007;293(4):G850-6.

Good luck!

[juliegee]

Hi Ana,

EE is closely related to MCAD. One of our members here, Linda Joy has been DXed with EE (or a variation of it) for years and has not improved. She's recently formally been DXed with MCAD and is beginning to respond to her new meds.

I'm sorry, I can't remember your son's story. Can you remind us again. I'm particularly interested as my son at 12 was unable to eat (nausea/vomiting), lost tons of weight, started fainting all of the time, etc. He ended up at Hopkins with a DX of small bowel sysmotility caused by neurally mediated hypotention. BUT, I still wonder if the whole thing was mast cell mediated. He was never appropriately tested for that.

I look forward to hearing more about your son.

Julie

[anna]

Hello again,

Thank you firewatcher for the articles, most useful.

Julie,

Well the story so far I and my 3 children have a formal diagnosis of EDS3 the children also have a diagnosis of probable POTS!, but defnite autonomic dysfunction. This time last year one of my twin boys became very poorly, with very bad epegastric pain, bad diarhea, frequent urination, very low BP and high HR. His GP first thought it was a virus but it went on and on we went back to GP many times but GP had no idea what was going on, when my poor son started to loose weight the GP thought my son might have gastric ulcers as we have a stronge family history of ulcers, so son was put on omeprazole first on a standed dose that helped a little so he was put on a high dose which eased the pain etc. Meanwhile I had to take my son to see a private urologist to sort out the weeing side of things, the bladder problems were put down to his EDS and over active bladder syndrome. At some point during all this some tests pointed to my son having high plasma sodium, this lead to him being sent for a water deprevention test, which was not quite normal but not exactly right for DI. Now my son has seen a paed. with an intreast in GI issuse, it is this Dr. that thinks my son most likely has EE, all my children have a history of food intolrance, none of them have ever tolarated milk, they have been on Gaviscon for years due to acid reflux and associated problems. To add to this the poor child also has problems with allegic or acid related nasal obstruction, which is causing breathing problems at night. Mentioning this to his GI Paed. seemed to make the GI Dr. more sure sons problems are EE related. Hence me wandering about a Mast cell connection. Another thing that makes me wander is that when my son stops his nasal steriods his gut issues start to be problamatic! also my daughter had a bad bee sting reaction and was given steriods as medication she told us how awake she had felt, the first time in years! after having a RAST test for bee and wasp stings we found that my daughter has no allagy to these stings, so not sure about this odd reaction she had.

Hope that gives you an idea of what is going on with us.

Anna

[flop]

Hi Anna,

sounds like you have a lot of issues going on - I hope the new year brings you some answers and effective treatments!

Your daughter's sting reaction - reactions without actual allergy can happen with MCAD. However you should know that RAST tests are not the most accurate allergy tests, they are simple to do as they are a blood test. RAST measures the amount of IgE present against a specific allergen (eg wasp sting) but if the overall level of IgE is low then you can get false negatives. You should ask for your daughter to be referred to an immunologist (allergy specialist) for skin prick testing and further evaluation. If she does have a wasp/bee sting allergy then she should carry and epi-pen (adrenaline injection) in case she has a more severe reaction in the future.

I don't know anything about EE myself but you have already had replies from members who do! If your son't paediatrician is already investigating EE he would be the person to ask about the possibility of MCAD. Another recent thread has a link to an article about MCAD in POTS - you could take that along or send it to the doctor.

Flop

[juliegee]

Hi Ana,

I think Flop is right. Show the doc doing the EE investigation the POTS/MCAD reasearch. Perhaps that doc could beging the MCAD work-up. Many of your family's symptoms are suggestive of MCAD. So far, researchers officially say that MCAD is NOT familial, BUT my masto doctor was not at all surprised to hear of multiple stricken members in my family. She said she hears it every day. How do your kids do on antihistamines? H-1 and h-2 blockers? Have they ever tried any thing like zantac, zyrtec, benadrly, etc? If it's MCAD, they should be very helpful. hope you get to the bottom of things. Please keep us posted.

BTW, I've met so many people with EDS and mast cell issues. My family is being investigated for a connective tissue disorder too. The geneticist just ruled out EDS4.

Julie

[anna]

Thanks for all the input guys, I will try to get paed. to read info on MCAD, but I worry a little as I have already got a name for myself as a mum that has too many medical things going on!! Sure you all know that one! I am glad that my son's GI Dr. is willing to think out of the normal GI box so I may have some luck sorting my kids out after all.

Flop, About my daughters Bee sting reaction, we are still not sure if it was an allargy responce or an ANS responce, GP never bothered to look into this further but I got a RAST test done via GP surgery with a little push here and there, after that, GP said they assume all is alright as lab did not write other wise, I still can not make out lab results. It reads on 1st. page:-

Blood (RAST)

ALLERGIC REACTION TO BEE STING

Number of Antigens = 1

Total IgE = 10 Ku/L (ref 0- 97)

Specific IgE to Bee venom = 0

Specific IgE (RAST) Classes: o- Undetectable

1- Low

2- Moderate

3- High

4 to 6 - Extremely High

Next Page Reads:-

Blood (IgE)

ALLERGIC REACTION TO BEE STING

Total IgE = 9 Ku/L

Sorry but I am a bit thick when it comes to things like this, what does it mean?

Thanks again guy's.

Anna

[flop]

Hi Anna,

IgE stands for Immunoglobulin E - it is a protein that is involved in allergic reactions. It looks like they measured your daughter's total IgE twice and got similar readings (9 and 10) which are within normal but are at the low end of the normal scale (0-97).

RAST tests measure the IgE against a specific allergen - so you can measure IgE for bee sting, Ige for peanut, IgE for cat etc. The total IgE is all the types of IgE added together.

When you have a low total IgE there is a chance of a false negative specific IgE result (the result shows no allergy but the person actually is allergic).

If the reaction to the sting was either an allergy or a reaction from MCAD then a future episode may be helped by giving an epi-pen. Usually in the UK you would need an immunologist to advise prescribing an epi-pen unless someone had needed hospital treatment for anaphylaxis previously.

I hope that makes sense!

Flop

[anna]

Thank you Flop, yes that makes more sense to me now. My kids are all up for a review with Paed. in the next few months, so I will bring this up and a lot more me thinks!!

Julie.

Just looked back at my kids meds they have all been on and off Cetirizne an antihistamine for years. Infact No.1 sons GI paed. wants him to stay on it till his guts are sorted out!! My daughter also gets acid reflux problems swallowing and food getting stuck in her throat etc. on bad days she tells us her throat feels like it is very 'big' we decided to try the antihistamine the last couple of times and she seems to feel better by the end of the day, so I am not sure what is going on there. My childrens last paed. was a very kind man but really did not look at all the kids problem as part of a bigger picture, they have a new paed. now and I think she wants to 'sort things out' as she put it.

Anna

[flop]

It is good that your kids all see the same paed - hopefully by treating all of them the doctor will be more observant of any patterns / links between their problems. Let us know how you all get on.

Flop