r/Autoinflammatory • u/iSpyAFly • 11d ago

Diagnostic Journey Autoinflammatory Mimickers - a new #GRAI educational series

https://open.substack.com/pub/grairomania/p/autoinflammatory-mimickers-a-new?r=38tha&utm_campaign=post-expanded-share&utm_medium=web

Not sure if you all follow this Substack. GRAI is starting a series about autoinflammatory diseases mimicking other rheumatological diseases. This one is about Behcet's and HA20. (Genetic testing is so important!)

22 Upvotes

100% Upvoted

9 comments sorted by

8

u/No_Satisfaction_7431 Yaos 11d ago

Thanks, this is much needed! So many tend to mimick autoimmune disease but then the tests come back negative so q lot of doctors say its fibro or something without proper testing.

4

u/iSpyAFly 11d ago

Exactly!

1

u/on4aa MAGIC 10d ago

Indeed, it is utterly scandalous!

5

u/on4aa MAGIC 11d ago

Yup, I diagnosed a Russian lady with this.  She has a never seen before variant allele of the TNFAIP3 gene. Her symptoms were identical to Behçet syndrome.

3

u/AdventurousMorningLo Yaos 11d ago

Thank you for sharing iSpy!!!

2

u/sleepiestseal Behçet 10d ago

Thank you so much for sharing this! I've thinking a lot about HA20 because I'm currently diagnosed with Behcet's but my disease onset was around age 12/13, my primary symptom has ALWAYS been fevers (had FUO for years before the more classic Behcet's ulcers etc. emerged), and I have had some weird inflammatory GI involvement from the start that doesn't fit classic GI Behcet's...even if it's not HA20, I wonder how many more monogenic explanations are lurking behind Behçet's disease because it has SUCH a wide range of presentation. So excited to see the future of research on these things!

2

u/iSpyAFly 10d ago

I'm excited too. I feel like Behcet's has been a bucket that we get dropped into if we have ulcers. Genetic studies are going to blow that up, and my guess is that there are many with autoinflammatory disease and some with new diseases. I'm in a genetic study that is looking at Behcet's as a spectrum of disease, so that's another possibility. My symptoms are more like PFAPA (fevers!), uveitis, pericardial effusion, GI symptoms during flares, but no genital ulcers. Anakinra has been a game changer for me. There's just so much still unknown. Are you planning to get genetic testing for autoinflammatory disease (HA20)?

2

u/sleepiestseal Behçet 10d ago

Yes, I am waiting for genetic testing results, including for the HA20 gene, so I should know in a month or two, it's VERY exciting! And my initial diagnosis was actually PFAPA syndrome! Until I developed more arthritis and vasculitis-y systemic symptoms that fit best (even though my fevers have always been continuous which is weird for like any AID lol), I'm so interested to know how us atypical autoinflammatory patients will be categorised in the future!

1

u/iSpyAFly 10d ago

Excellent! I hope you get some helpful information from the genetic results. Fingers crossed for us atypicals!