I have Hereditary Alpha Tryptasemia , what does this mean for my care?

[frozenborderline]

I have long had sensitivities to things like mold and outdoor toxins such as

1. Mystery toxin
2. Hell toxin
3. Cyanobacteria
4. Fire Retardant Associated Toxin

There was always a lot of crossover with ME/CFS as being in good air helped my PEM and energy envelope more 5han any other treatment and affected my dysautonomia a lot, positively. Anyway I got an "MCAS" diagnosis.

But the mast cell meds haven't been enough, they barely control my responses when I'm in mediocre buildings, let alone bad ones. They help somewhat , they help with symptoms and palliation a lot but don't help as much as a more expensive and difficult change in environment. If there was a pill I could take to make what happened in my body when I was in death valley, or the ancient bristlecone pine forest , or the mountains of west vieginia, happen without the environment, I would. But there is no such pill. We have to start by understanding the environment and then the person. I think actual toxins, not just irritants or harmless things that people become irrationally hypersensitive to, play a role in this.


Anyway, I have craniocervical instability as well. Or I should say I HAD cci, since I had a fusion for it very recently. (Please dont ask how I'm doing, it is too early to tell if I will have remission) . My oldest sister has many of the same issues but not ME/CFS, or PEM yet. She has similar reactions to toxins like mold or outdoor toxins, honestly sometimes worse reactions than me. Or intense reactions to stuff like the recent vaccination, she got that and then got flu like symptoms and puking and bedridden for a day or two.

Anyway the point of all of that. I have severe me/cfs. I have the whole alphabet soup, POTS, CCI, Tethered Cord (TC), MCAS (I may have mastocytosis and haven't ruled it out) , CVID (I think, my dr said immunoglobulins consistently low and called it "hypergammaglobulemia" but I think it's the same deal, also been dxedwith small fiber neuropathy. My sister has some of that stuff too so I think it makes sense that theres genetic and environmental aspects to it. We shared Gene's but also a house.

Anyway , heres some info about it from the NIH: https://www.niaid.nih.gov/research/hereditary-alpha-tryptasemia-faq

It does seem like something they take somewhat seriously. Maybe if I bring it up in new doctors offices now I will get taken more seriously then if I talk about MCAS or ME/CFS . Just say I have this strange genetic syndrome that causes this triad of issues , from connective tissue problems to dysautonomia, to immune hypersensitivity to everything. They may not know what it is but anything that has an NIH page like that may be taken more seriously.

Anyway , anybody else have this. And what do you do to treat it

 

[frozenborderline]

@Learner1 @Hip @sb4

 

[Learner1]

This would require a very lengthy reply. If I were in your shoes, I'd find a Bastyr trained naturopathic doctor or an IFM trained functional medicine doctor to help you through these issues.

Some things to try, if you haven't already:

- H1 and H2 antihistamines plus mast cell stabilizers, like cromolyn sodium, quercetin and Neuroprotek

- removing toxins - figure out what you actually have them apply appropriate strategy, support detox pathways with nutrients, then bind, use glutathione and curcumin to flush them out. Alternate binders with detoxers.

- get CVID treated - with SCIG or IVIG. Get tested and treated for viruses like EBV, HHV6, Lyme and co-infections, toxoplasmosis, atypical pneumonias, etc.

- get spinal issues looked at and dealt with - jeff_w's mechanicalbasis website should help. Investigate prolozone and prolotherapy before surgery.

- POTS - use NASA Lean Test on Bateman Horne Center website to test meds - Huperzine A or Mestinon, beta blocker, fludricortisone, depending on your situation

There's a lot to cover here. One could write a book. I don't know what your total background is, but investigate each of the above steps and hopefully you will find a combination that works. Be persistent and find doctors who will help you through this.

Best wishes

 

[Hip]

Looks like alpha tryptasemia is present in around 5% of the population. In some people it produces no symptoms, in others it can manifest as mast cell activation symptom like allergies, according to this study.

This genetic mutation leads to too much tryptase being released. So conceivably some tryptase inhibitors might be useful.

This paper says lactoferrin (an available supplement) is a potent inhibitor of tryptase.


This paper looks at other tryptase inhibitors, but I am not sure if any are available.

 

[frozenborderline]

This paper says lactoferrin (an available supplement) is a potent inhibitor of tryptase.

Okay, I've taken that before. What doses are needed to inhibit tryptase? It seems to have low toxicity too so I'm willing to take it without much deliberation or research. Doesnt it have other benefits like antiviral or immune boosting stuff ?

 

[Hip]

What doses are needed to inhibit tryptase?

Hard to say what the oral dose might be, because the study applied to the lactoferrin to the lungs of sheep in an aerosol, at a dose of 10 mg, in the context of asthma.

For a systemic oral dose, maybe 250 mg of lactoferrin might be a starting point, and then try to observe if it has any benefits. If no benefits are observed, you could try increasing the dose, but then it going to start to become more costly.

 

[frozenborderline]

This paper says lactoferrin (an available supplement) is a potent inhibitor of tryptase.


This paper looks at other tryptase inhibitors, but I am not sure if any are available.

@rpapen77 please look at this to look for options

 

[Jyoti]

I know this thread has been slumbering for a while, but I found it recently, after having been diagnosed with HaTS myself. Unlike @frozenboderline and others with this anomaly, I do not appear to have reactivity to much of anything in the MCAS realm. I haven't, for instance, had hives or anaphalaxis ever. I had my last rash about 62 years ago. I don't flush. My gut could be better than it is, but not a lot. And has never responded to myriad dietary changes I've made on its behalf. I've been tested for molds and environmental allergens ...nada.

But...I do have POTS, a compressed IJV, 'idiopathic' intracranial hypertension, my cervical spine is unstable and has started to become scoliotic, andI have been diagnosed, of course, with ME. It seems that all of these (and a handful of other random-seeming symptoms) could be the downstream effects of too much tryptase, and I am both marveling at this and trying to wrap my head around it.

what do you do to treat it

Center for Complex Diseases says: treat it like severe MCAS. So....the usual stuff for that: H1 and H2 blockers, ketotifen, cromolyn, LDN. That is as far as I have gotten and while the H1 and H2 blockers seem to help a bit, the others.....not so much. I don't believe there ARE a whole lot of options out there. This is a new 'syndrome' having just gotten its own ICD code two years ago, the genetic anomaly having been isolated in 2016.

I wonder if @frozenborderline or anyone else ended up trying lactoferrin? I am going to give it a go, but would love to hear from anyone who has done so already.