Systemic Mastocytosis and Ehlers Danlos Syndrome hypermobility. Does anyone else have this combination of diagnoses

[Marcilhac]

I was diagnosed with Postural hypotension / POTS some years ago but in 2022 the Cardiologist diagnosed that additional symptoms I was getting (flushing, sweating and tachycardia at night) were due to a Mast Cell issue. Subsequently, at a different hospital, they confirmed that I had the indicative genetic mutation and a bone marrow biopsy showed that I have Systemic Mastocytosis (Indolent). I also have Ehlers Danlos Syndrome hypermobility. There seems to be an association between these two conditions. I would love to hear is anyone on the group has a similar combination of diagnoses. I live in London

[janeps]

Hi, Can I ask which speciality referred you for genetic testing and the bone marrow biopsy? It's very difficult to get any consultant to refer for these tests. They rarely acknowledge Mast Cell Disorders even with multiple admissions for anaphylaxis. My daughter is hypermobile and needed a craniocervical fusion which we paid for in Barcelona. She is diagnosed privately as likely Mast Cell Activation Syndrome and has a very poor quality of life. We live in the North West.

Immunology here won't even acknowledge it's a thing. I suspect she has genetic mutation as she has had symptoms since being a child but don't know how to access the tests privately and it's expensive. It also doesn't really alter the treatment. Unfortunately, she can't tolerate Mast cell stabilisers or antihistamines. She is 35 and has been ill since age 11.

[Marcilhac in reply to janeps]

Hi

I had the genetic testing and Tryptase testing at Guys and St Thomas's immunology department. But when the genetic test was positive for the C-kit mutation they then transferred me to their Haematology Department, which seems to deal with cases of Systemic Mastocytosis. Dr P Sriskandarajah in Haematology and Dr Deepti H. Radia are Systemic Mastocytosis experts. Dr Grattan in the immunology department has a Mast Cell clinic but this deals mainly ( only??) with the skin issues relating to cutaneous mastocytosis.

You can have a look at their names on this paper:

ashpublications.org/blood/a...

I got to Guys immunology easily because I had previously been seen there after anaphylaxis. So that is where I started from. But it is evident that the Haematology department think I should have been sent straight to them.

The Mastocytosis support charity - MastoUK - is holding a conference in Manchester on Saturday 16th March. Both the G&StT consultants Sriskandarajah and Radia are speakers. Can you get to it? Join MastoUK for £12. The conference is free to members. £30 for non-members . Eventbrite said there were no tickets left but when I emailed MastoUK they freed up some more tickets.

I would suggest asking to get a second opinion ideally from Dr Sriskandarajah or Radia in the Guys Haematology department but if the GP refuses this you could start where I did with Guys and St Thomas's immunology. Guy's and St Thomas's seem to be the national expert centre on Mastocytosis. They are well aware of the association with hypermobility conditions. although no one seems to know why there is a link.

If your GP won't co-operate you could pay for a private appointment and get an informed opinion from one of the two consultants and then, if they tell your GP it is very likely that your daughter has Systemic Mastocytosis you would be able to demand a NHS referral for genetic testing.

Let me know if you are able to get to the conference in Manchester

[janeps in reply to Marcilhac]

Thankyou for getting back. Won't be able to make the conference I'm afraid. I think a referral out of area would need to be private. To engage an out of area NHS consultant would need a referral from a consultant and my daughter isn't under anybody. She hasn't been admitted for anaphylaxis and bloods are usually normal. I might consider paying for the genetic testing. Can I ask was it a blood test or saliva swab. Thanks for the contacts though. That is so helpful to know where the experts are.

[Marcilhac in reply to janeps]

Hi

The genetic testing is done with a blood sample. I think there are very few places which can do it, Guys and St Thomas's being one. Could the MastoUK people point you to a consultant in your area who knows something about Mastocytosis? Perhaps then you could then get an NHS referral out of area on to Guys and St Thomas's for a test as it is a rare condition.

All my other bloods were normal except for (i) slightly raised tryptase just a bit above normal range and (ii) the genetic mutation. So the usual run of blood tests wouldn't show anything. One of the ways they decide whether to do the genetic test is to see if your condition responds to anti-hystamines. For example my bowel issues responded brilliantly to an H2 blocker (famotitide). And my tachicardia and flushing responded to fexofenadine and famotidie combined. This plus tryptase level lead to the genetic testing. That then led to the referral the haematology depart from the immunology department. So perhaps a knowledgeable immunologist who listened to you daughter carefully might get you the referral for testing.

If you can afford a private consultation with Dr Grattan at Guys and St Thomas's that might unlock help. As she has anaphylaxis he would be open to the possibility of Mastocytosis.

Nina

[janeps in reply to Marcilhac]

Sorry for the late reply especially as you were so prompt with your yours. My daughter hasn't had anaphylaxis. We did seek the help of a private consultant a couple of years ago when she went into a mast cell crisis. We do know that she responds to antihistamines. Unfortunately, she is unable to tolerate meds of any kind even tiny doses. The antihistamines give her severe, disabling joint pain. She tried them all including Ketotifen and the F2 antagonist Famotidine. He did suggest private genetic testing but that they were expensive and it wouldn't alter the treatment as it's the same for Masto and all the different types of MCAS. I thought a positive genetic test might stop the gas lighting. Most people can't conceive of somebody not wanting to take meds. Her symptom burden is huge and unbearable. Also, not well enough to travel. Thanks for the names and the articles too though. There is always hope xx

[Alxg123 in reply to janeps]

Sending much love and support, I am so sorry to hear you have also been failed by medical professionals. I was so angry noone was connecting the dots deep researched my sons symptoms all MCAS related anaphylaxis, histamine intolerance severe brain fog, spacing out, acute gastric issues, POTs. After over a year of profound illness, trips to Aand E with anaphylactic shocks, no help from doctors, I researched functional supplements for my son and got him privately tested (great expense, i am a single parent, it wasn't easy) and within 2 weeks hus symptoms regressed and hes been back at school full time, full of life. Antihistamines block the histamine response, but are only a band aid. My sons GP can't believe the turn around.. I really want to help anyone else in a similar situation, so reach out if youd like a full copy of the natural supplements I put my son on (amino acids, flavonoids, vitamins, minerals) I want to help if I can. Still no official diagnosis, but I researched over months to help my son and it bloomin worked! Xxx

[janeps in reply to Alxg123]

Thankyou so much for your lovely message. I know what you mean about research. I feel like I've done a Masters in MCAS. We tried all the supplements listed that help including flavinoids, quercetin etc. My daughter is so reactive she can't even tolerate the Iron supplements she needs for her Anaemia and we've tried every different form. Her diet is restricted to about 25 low histamine foods. I paid privately initially and nothing raised enough alarms to warrant a referral to Immunology or Haematology. We had the support of a private Endocrinologist and through private prescriptions tried every mast cell stabilizer, antihistamine and all the supplements as he was a staunch supporter of supplements too. Everything made her sicker so we are stuck in No mans land. On a brighter note she has gone from being bed bound to being able to potter about. Also has multiple chemical sensitivities so avoiding triggers has really helped. Can I ask which tests you had and which antihistamine your son uses. I am so glad your son is ok. XXX

[Marcilhac in reply to janeps]

My husband found this article

england.nhs.uk/blog/rare-di...

Also

The UK Rare Diseases Framework

Policy Paper, Published 9 January 2021

gov.uk/government/publicati...

We will ensure the patient voice remains central to the implementation of the framework, ...

Priority 1: helping patients get a final diagnosis faster

For people living with a rare disease, getting the right diagnosis is key to appropriate management of their condition. It can enable greater treatment choice and reproductive decision making and can link individuals to vital information and support through patient organisations.

Awareness of rare diseases among healthcare professionals is also raised by the rare disease community as a key challenge. At the start of a patient’s journey, the first point of call is often their GP. When faced with a patient with unusual or unexplained symptoms, many GPs will not routinely have the knowledge or experience to correctly identify that they are suffering with a rare condition.

Quotes from patient groups and healthcare professionals

“To obtain my diagnosis after 3 decades I’ve had to self-advocate and self-diagnose using online research. I’m a medical doctor… No one joins the dots in multi-system involvement even if provided.”

[Marcilhac in reply to janeps]

Guys and st Thomas did both genetic testing and biopsy. Haematology department has two consultant who are expert in Mastocytosis.

[janeps in reply to Marcilhac]

Thankyou xx

[Winter_night in reply to janeps]

My diagnosis was from NHS dermatology and was based on severe skin symptoms (wheals, huge hives, flushing, swelling of face and eyelids etc) and positive response of skin symptoms to Montelukast. I also have hEDS, PoTS and erythromelalgia and the dermatologist was willing to consider the links MCAS has to those conditions. I think I was lucky in terms of who I saw, most doctors don’t want to discuss in my experience. I was only under dermatology because of the erythromelalgia initially. Does your daughter have skin symptoms she could show or photograph? My gut is still in a terrible state and I’m still in constant pain but my skin symptoms have cleared up at least. Good luck, it’s such a difficult situation to be in.

[Alxg123]

I have had a beyond frustrating journey to diagnose my teenage son, as none of the doctors we've been referred to have had any knowledge of MCAS, Pots, EDS, they initially said it was anxiety related or celiac disease, despite test results before he got COVID showing no indications. We have been left high and dry, despite private lab tests showing my son has Leaky Gut Syndrome, high levels of Pro Collagen (possible link to v EDS) a pronounce histamine intolerance, he cant break down the histamine.. where is everyone getting their MCAS diagnosis from, as my son's NHS gastroenterologist said he's never treated or knows anyone with it (despite DAO being produced in the gut), his NHS allergy spec said he couldn't be histamine related after performing a flawed scratch test (I went private and it was confirmed).. where is everyone getting their MCAS diagnosis from? I've done so much research and connected all the dots.. please if anyone can help. Xxx

[janeps in reply to Alxg123]

My daughter's diagnosis is from a private consultant. He told my GP that she presents with a very clear and strong suspicion of MCAS indicated by a positive response to antihistamines when she tried them even though she had to stop because she couldn't tolerate them, and also by the response to removing histamine from diet. I'm a nurse in an NHS hospital. I've asked various medical colleagues and most of them have no idea of what I'm talking about. Does your son take Diamine Oxidase supplements. They're expensive but helped. She had a private blood test for DAO levels which were low. I think it is very difficult for anybody to get a diagnosis on the NHS XXX

[Marcilhac in reply to Alxg123]

My diagnosis was at Guys and st Thomas’s after a cardiologist reported that he was certain I had a mast cell issue . I saw someone in immunology at st Thomas’s first where they did tryptase test and genetic testing for the mutation. Then they referred me to their haematology consultant based at guys for bone marrow biopsy which definitively shows the mast cell are far too many and mutated.. My GP admitted to knowing nothing about it but one GP in the surgery is now willing to get informed and be my assigned GP for this .

[Bilka]

Reply to Alxg123

Iam glad that you son is doing ok on the supplements. I am suffering similar symptoms and not getting a lot of help from medics . I would like to ask, if you don't mind to share, what natural supplements you have mentioned in you post, helping to combat these symptoms? Please. Could you also tell me what private tests and what labs did you used? Thank you .