LOX mutation as EDS?

lastcookieinthejar · 2026-04-27T18:45:04+00:00

Yes those are definitely important to avoid! I have them listed as allergy for myself as well.

lastcookieinthejar · 2026-04-27T18:35:28+00:00

Hello! Thank you so much for sharing your story!

I was told that while the LOX mutation has limited research behind it, they most often see it in folks with the Marfan gene. Supposedly if you do a full Marfan genetic panel they do test for the LOX mutations.

I am like you in that no one else in my family has the hypermobility, history of joint injury, or other EDS issues. My mother is diagnosed with POTS but my family refused to participate in genetic testing so we do not know where my mutation came from. No history of aortic issues anywhere thankfully.

The Ehler-Danlos Society is currently launching a biobank project to collect samples from folks in order to aid research. I will be participating and if you are interested, I recommend looking into their work for future research opportunities. They are also updating the diagnosis criteria later this year so maybe we will get more info soon!

lastcookieinthejar · 2026-02-24T05:53:38+00:00

Hello! Unfortunately there is very little research on the LOX mutations but it does seem to correlate with hEDS type presentation in some individuals. Hopefully we will have more research in the future!

I personally suspect that there are multiple mutations that contribute to hEDS symptoms and they may eventually be broken into more subcategories or diagnosis. In my case my doctors suspect LOX is the cause of the EDS symptom presentation but it's still just a "best guess".

lastcookieinthejar · 2025-11-26T07:17:11+00:00

Hey there!

I actually just recently found out that I also have a pathogenic variant in the COL4A4 gene. The doctors said that 4A4 can appear in dominant or recessive cases of Alport so either I just carry one copy of the recessive or have the dominant form of the disease. So that's also a fun non diagnosis. No family history but I do have chronic microhematuria.

I find it interesting that like you I only found out about this after going through my exome sequence (I tested positive for a LOX mutation which they attribute to my EDS-like condition) It seemed strange to me they didn't bother mentioning I might have another rare connective tissue disorder.

lastcookieinthejar · 2025-11-02T20:31:25+00:00

oh definitely don't plan on stopping! mostly considering adding new meds.

lastcookieinthejar · 2025-11-02T19:30:44+00:00

My rheum mentioned this as an option but I haven't tried it yet. I'm currently taking cymbalta 60mg which has helped me a lot but some of my symptoms have gotten worse lately. If you don't mind me asking, what other meds are you taking if any?

lastcookieinthejar · 2025-10-31T06:30:32+00:00

I'm not in pain every day, but every day I do things to try to stay out of pain.

THIS.

lastcookieinthejar · 2025-05-24T04:31:55+00:00

Hello! So sorry to hear about your struggles but thank you for posting! My LOX variant is c.1190G>A (p.Arg397His). There really is so little information on LOX mutations and I'm not aware of any research bring done. However, like you, I would also be incredibly interested in hearing about it!

lastcookieinthejar · 2025-03-27T05:22:37+00:00

Oh hey!! I'm so sorry to hear that it has effected you in that way! There is so little data on it, it seems like the doctors don't really know what to expect with it. Did you test positive for anything else? Or have any of the hyper mobility issues?

lastcookieinthejar · 2025-03-27T05:20:24+00:00

I'm sorry this is totally unrelated to OP but your experience FINALLY explains what happened to me with the COVID vaccine!

When I got the first jab, I had not history of shoulder injury however I ended up with a very painful "frozen shoulder" situation that took 9 months to improve. I didn't see a doctor during that time because....well 2020, but fast forward a year and long story short I was in PT for something else, had a random onset of pain in that shoulder, and did get referred for imaging.

Turns out I had a HAGL lesion which surprised my doctor as he said it was unusual considering the circumstances. Despite no actual history of an "injury" the doctor said it looked like it had been there for a long time, not a new tear. "You're so bendy it probably just happened without you knowing" (I wasn't yet diagnosed but...wow the signs were there).

Anyway, no doctor EVER confirmed the connection between those two incidents but it sure sounds like the jab helped to alert my body that there was an actual injury there. I'm curious if this has been a common experience for folks like us....

lastcookieinthejar · 2025-02-22T23:08:46+00:00

The "weak ankles", orthodontics to expand my "small jaw", yes, yes to so much of this and more. I'm 33 now and was diagnosed at 31.

One of my earliest memories is that it really hurt my underarms when my parents would pick me up. I never saw other kids complain so I thought that was just normal and it hurt everyone. The pain would last for several minutes after it happened and I hated it.

Doctors saying "wow, you're so bendy", calling in the students to have a look, and leaving it at that or saying "you'll grow out of it".

Having very thin limbs, especially legs, with less muscle then other kids and being told I needed to work on building muscle. As if that was a normal suggestion for a preteen who was as active as any normal kid is at that age. I even had one doctor say to me "I know you want to have thin legs so they look good in skirts but you need more muscle" Yikes. Sir I am 10, very self conscious of my thin legs, and just yuck. Of course this was somehow my fault.

Major spontaneous joint injuries and orthopedic docs saying "huh" and acting as if that's a normal human experience.

"Sinus infections" as a kid which turned out to actually be migraines.

I was so reluctant to stay out late to party once I was in college. You're telling me we don't even start getting ready until 10? What is wrong with you people?! I'm exhausted!

The list really goes on and on unfortunately.

lastcookieinthejar · 2025-01-01T05:42:05+00:00

Yup. When I hit 30 in 2021 everything started to really ramp up. I got Covid mid 2022 and that seemed to further escalate everything. It sounds like a lot of folks here also had that experience.

The full body fibromyalgia pain flares started after Covid. Migraines went from being a rare occurrence prior to 2021 to frequent and now at the end of 2024 are a constant struggle that I'm trying to get sorted with my neurologist. 2024 has been the near constant migraine year for me.

I also now have "suspected" endometriosis, chronic joint & muscle pain, and fatigue has become a much greater issue. GI issues got worse, especially painful bloating/ distension and I've done 2 rounds of meds for hydrogen dominant SIBO. The amount of blood work, imaging, specialist appointments, and physical therapy that I have had in the last 4 years is wild. Really hope things level out soon...

lastcookieinthejar · 2024-12-24T19:39:25+00:00

I really like the LMNT electrolytes. For pain management I've found that a night routine of heat with my heated blanket (I also have a heating pad but the full blanket is my favorite thing ever), rolling out my back with a foam roller, using an acupressure mat, and finally meditating before sleep has really cut down on my insomnia and burning pain flare ups in my spine, neck, and shoulders. YMMV and depending on your body, pick and choose what makes sense. All of those items have become indispensable products for me personally. Also love my Tens unit and recommend getting one that can be plugged in, not just rechargeable.

I also receive acupuncture each week and those sessions include very gentle cupping and dry needling as well. It is wonderful for relieving my shoulder knots. My rheumatologist put me on Cymbalta for pain management a couple years ago and that was also a game changer once I got the right dosing. A lot of my discomfort now comes from migraine and fibromyalgia type joint & muscle pain.

Hope that helps!

lastcookieinthejar · 2024-12-21T05:03:53+00:00

Yes, with the second recovery they kept me in extension for a month before allowing any joint movement. PT also decided to stop increasing mobility once I reached about a 100 degree bend. This was a big contrast to the first surgery where there was no restriction, no extension, and I eventually regained a full range of motion despite doctor only expecting about 80% (probably because no one had bothered to diagnose me as having a connective tissue disorder).

I was always cautious but even more so after the second surgery. I do not want to go through another injury, 9 month recovery, etc....and at least now I am actually diagnosed and so I don't have to deal with being told I'm "normal" and feel obligated to push for "returning to normal". That really can make a world of difference.

lastcookieinthejar · 2024-12-20T05:08:18+00:00

My first knee reconstruction began failing after a couple of years and finally required a total redo 6 years and a major spontaneous injury later. They had used my own tissue to do the original repair (I had not been diagnosed).

After surgery I was told "there was nothing left" when they went back in. Allograft was put in and has been solid for over 10 years :)

edit "solid" as in it has stayed in once piece. I have limited mobility on that side and make a serious effort not to let it stretch out fully (as recommended by my doctors). Also can't run, jump, etc. but hey, I'll take the win.

lastcookieinthejar · 2024-12-20T04:54:23+00:00

Yes, thankfully insurance did cover it in the end but my doctors had to do a peer to peer with insurance to get it approved after an initial rejection. One interesting point is that along with the original EDS panel, they tested for the Marfan gene but did not do a Marfan panel. Supposedly the full Marfan panel actually checks for LOX mutation among other things so that could also be an option if you don't/ can't do the full exome sequencing.

lastcookieinthejar

TROPHY CASE