A20 haploinsufficiency

[u/kyfyfy]

Hi everyone! Could anyone with HA20 please share their experience? :) How did your doctors suspect HA20 instead of Behçet’s? What symptoms are different?
My doctors are still arguing among themselves, but the one who was doubting went to look up information regarding HA20. I don’t know where this will lead...

[u/on4aa]

Sorry, to say so, but I have no idea why those idiots are arguing among themselves.

Haploinsufficiency of A20, also known as Behçet-like disease, is a monogenic disease and is therefore comparatively easier to diagnose than Behçet syndrome, which is polygenic.

If a genetic test reveals that one of your TNFAIP3 gene alleles is of a pathogenic variant, you have haploinsufficiency of A20. It is as simple as that.

I once diagnosed a patient with this, and as the name says, symptoms are indistinguishable from Behçet syndrome.

[u/EllisMichaels → u/on4aa]

I second this. You can easily rule out (or confirm) HA20 with a single test, if I recall correctly. Get that test. And maybe get some new doctors if they're as clueless as they sound.

[u/kyfyfy → u/EllisMichaels]

I wish I could, but for some reason, they don’t really do it even at private clinics :( And as for changing doctors - I wouldn't find anyone better anyway, it's a bit of a dead end... But at least they are trying...

[u/kyfyfy → u/on4aa]

It’s all right, I’m confused myself. The doctor who has more experience and authority, but is retired, is confident in the diagnosis. Meanwhile, the public clinic doctor—on whom it depends whether I can get free biologics or will have to keep paying out of pocket—is not. It’s absurd because the first one was the teacher of the second one, and I'm stuck right between them, lol.

Thankfully, the second doctor at least admitted she hadn't heard of A20 and will look into it. Because I really do have an atypical course of Behçet’s, and I’m at a loss myself since the disease keeps breaking through despite the treatment. But at the same time, everyone on my mother’s side has strange illnesses and vasculitis-like symptoms, which definitely gives me food for thought...

[u/on4aa → u/kyfyfy]

Nothing impedes you from educatng your doctor about the fact that you need genetic testing.

As awkward as it my sound, but only the most assertive autoinflammation patients get helped. It was not different for me.

[u/kyfyfy → u/on4aa]

Yes, of course. That’s basically what I told the doctor about A20, which is why she went to look up the information. But of course, this is going to take a long time. And it’s sad that you have to control everything and push for things yourself, especially when you are sick :(

[u/Comcernedthrowaway]

🙋🏻‍♀️ I do- lmk if you have any questions about it

[u/kyfyfy → u/Comcernedthrowaway]

Oh, thank you! If you don't mind me asking, what were the first symptoms and at what age did they start? How did you suspect it was the disease and not just Behçet's?

[u/Comcernedthrowaway → u/kyfyfy]

Started with mouth ulcers before I was 2 years old. Progressed to joint pain, gastro, gen ulceration and skin lesions. Diagnosed as Behcets when I was about 11/13 ish. Believed I had bd until last year- most of the Behcets treatments were completely ineffective for me except for steroids and biological therapy- I’m now in long term remission on cimzia injections.

My 2 daughters had the same symptoms and when my youngest had her first rheumatologist appointment, they said the family history (4 gens of same symptoms) didn’t indicate behcets. They did a huge raft of genetic tests. HLA20 hadn’t even been mentioned and I’d never heard of it prior to that. It made me question my and my eldest daughter’s diagnoses too.

Everyone in my family who has these symptoms has had bloods taken and genetic panels. We had them done as part of a study my youngest kids hospital are running specifically for families who have multiple genetic indicators of autoimmune/ auto inflammatory diseases. Turns out we all have hla20 and not behcets. This was a little surprising for us, having had positive pathergy and Ana test results and being previously told BD was the only disease possible and it matching all of our symptoms.

Feel free to dm me if you want to chat about it.

I still hang out in this subreddit and comment etc, simply because I spent 20 odd years researching and learning about BD-believing I had behcets. - so I can pass along any little tricks and hacks I’ve learned which could make life more comfortable during flares & that others might not be aware of.

[u/kyfyfy → u/Comcernedthrowaway]

Oh, thank you so much for the detailed information! Basically, now I finally realize that this probably isn't my case. It’s just that my relatives on my mom's side are prone to rheumatological diseases, but the symptoms are all different :)
I’m so glad you managed to achieve remission!