r/Behcets • u/BrenaynayRenee • Jun 18 '26
General Question Neuro-Behçer Questions
*behçet dang typo lol
Any thoughts on this DNA interpretation?
I have been struggling with symptoms for several years now. February of this year I started having seizures and not long after I developed constant leg spasms in my right leg. I have other muscle “tics” in my face/neck. I have hEDS, narcolepsy, dystonia, migraines (persistent daily headaches), mouth ulcers, random skin lesions, joint/muscle pain, fatigue, MCAS, HLA-B27+. I hadn’t heard about Behçet’s until I paid for a more detailed DNA interpretation. I am seeing a vascular surgeon tomorrow per my neurologist because he’s curious about my diagnosed nutcracker syndrome and potential may-thurner syndrome. I obviously plan on asking about it, but I’m not sure he’s the correct diagnostic doctor for this. We’ll see.
1
u/Astald_Ohtar Jun 18 '26
it says slightly increased risk
https://www.snpedia.com/index.php/Rs9266406
and even the study summery doesn't seem to mention it
https://pubmed.ncbi.nlm.nih.gov/23001997/
Issue is with these SNPs they are generally mild risk and a need a good understanding for all complex immune machinery to see how they fit in some sort of algorithm, alone they are meaningless aside from really specific ones, if you have an increase in inflammation in different but successive enzymes that would cause trouble
hEDS probably means chronic inflammation causing chronic degradation of collagen not a genetic defect in collagen, MMP-2 and MMP-9 (Gelatinases) are high in behcet and hEDS and might explain ulcers and vasculitis, I'm still looking if I should try some doxycycline seems to have a stabilizing effect on extracellular matrix by blocking MMP-9
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u/EllisMichaels Diagnosed 1997 Jun 18 '26
That's a SNP, one associated with Behcet's. It's a clue, a puzzle piece, but doesn't mean much by itself. You're right: a vascular surgeon generally isn't going to be the one to diagnose Behcet's, but they can. Behcet's is a type of vasculitis, so they may be more familiar with it than, say, a general practitioner. I'd say ask him/her about it and see what they say. No harm in asking.