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Medical Forum / Diseases and Disorders / Lupus / April 2005No news yet, just a quick update
Hi all, I posted here for a while ago ('bout a month, I guess) to tell you that I'm wondering whether I should be worried or not about the possibility of me having lupus. After that, I am thinking now maybe that some of my not-explained symptoms do need to be checked out further, but I don't see it as urgent or whatever. I wanted to post back to you anyhow about my visit to the rheumy. As I've told in my first messages, I have HMS (hypermobility syndrome) and my questions about the management of that condition was the reason of me seeing a new rheumy. Actually there isn't much to tell yet, but I figured maybe some of you would be curious ;). The rheumy was actually so clued up about the HMS I felt so at home and being taken seriously, but I didn't have time yet to ask any other questions. I do trust him to be thorough though, and that feels a whole lot better then my old rheumy who diagnosed me wrongly in the first place- hard to trust other opinions of that doc, then. My rash hasn't recurred, but I plan to take piccies of it once it does :). Maybe ask the GP again about it, or the rheumy if it comes to that. With spring and sun coming, I probably won't have to wait long untill it rearrives, though it has once been absent for I think more then a year! So who knows, I'll just be more alert once it comes back. I thought most of you were in the US, so the climates you're all in is probably quite varying, but over here we've just had the first days of full sun, I know I get nervous the first weeks because I know I like the sun, but the sun doesn't like me. (Having photosensitive eyes doesn't help there either ;)). I guess you guys must be having that even more so, because for me it's normally just my skin that reacts to the sun. So I'm thinking of you these days. I will be around for a while, and certainly post again when I have news that is linked to my earlier question here. Hi Sen.. back when you posted I was pretty much absent. I have some hypermobility though no official diagnosis. My rheumy noticed it early on - especially in my hips (okay - don't go there!) and said that we those of us "blessed" with this flexibility are prone to arthritis and other joint problems for sure. I'd never heard that but then I'd never thought I was terribly flexible. (Andy fodder) Certainly not psychologically. :) Best wishes on the new season and getting some good solid answers. Take care, kcat  Signature--- KCat For Pen Talk, Images, Trading and Reviews: The Fountain Pen Network http://pagesperso.laposte.net/fpnet For Lupus Support and Info http://www.ghg.net/schwerpt/ASLFAQ/ >Hi Sen.. > [quoted text clipped - 7 lines] > >(Andy fodder) Certainly not psychologically. :) Bad Kitty! SignatureAndy Taylor [Chair, N E Lupus Group] See http://www.northeastlupus.org.uk for more! Hi Sen, I am glad to hear that you found a rheumy who will listen to you. That goes a long way, as far as I am concerned. It will make you feel confident when he offers treatments and suggestions. Thank you for bringing us up to date. I hope you will continue to keep in touch with us. BJ-Sk. Canada > Hi all, > [quoted text clipped - 29 lines] > while, and certainly post again when I have news that is linked to my > earlier question here. > Hi Sen, > I hope you will continue to keep in touch with us. Yes, I will do so if I have any new answers- may take a while though :). And I am indeed very glad I found this dr. Kitty, though many people do not experience many problems from their hypermobility, most may notice they are prone to injury at the very least, and some (like me) will have much more problems, like recurring subluxations and dislocations and many more associated problems, which can indeed result in early onset OA. Some enjoy their flexibility though (think of contortionists!) but as you may understand, not all of us are having "fun" out of it. I have read that hypermobility can also be secundairy to lupus or some other rheumatic deseases when it is caused by irreversible changes in the connective tissue. For most of us it is in our genes though, as is the case for me. And as you say your hypermobility is mainly in your hips- well a hypermobility in just a few joints is even much more common then hypermobility in all joints. I never thought of myself as being very flexible, but then how can I know what is normal joint movement?(!) Urgh, KCat I think I read Andy called you Kitty but then I suddenly thought maybe that's not your name.. er, so sorry if that wasn't correct, I did mean to adress you, though ;). > Urgh, KCat I think I read Andy called you Kitty but then I suddenly > thought maybe that's not your name.. er, so sorry if that wasn't > correct, I did mean to adress you, though ;). Andy calls me all sorts of things. :) No problem. I don't mind the many versions of KCat i've seen. Kat, KitCat, KCatwoman, etc. Hubby calls me Kitty when he thinks I'm being "cute" (his word, not mine. My word be "smart*ss") I've gone by Moggie (mostly because of Andy) and just plain ol' KC. Less so on the latter since joining my pen groups and having another KC and a Kat in the group. "I don't care what ya call me as long as you don't call me late for dinner." :) speaking of - it's oreos and milk time. oh... BTB - on the hypermobility. There appears to be a very mild expression of Marfans in my mom's family which showed up in my daughter. Verrrry long limbed, mild MVP, etc. And I would say, based on looking at my family that the hypermobility is either related to that or just happens to be in the same area of the genome. It's something I've seen in myself since childhood (hypermobility). So it's not acquired in this case. I just never thought of it as dysfunction, as you point out that in mild expression, it looks like it would be something useful to have. until you see severe cases or the long-term effects like OA and other joint problems. My hip used to feel like it was "out of joint" when was a teen. that doesn't happen as much anymore. now it's just pain there and that is under control. since all of this is part of the connective tissues (Lupus, HMS, Marfan's) it would make sense to me that genetic studies should be looking at the Marfan's loci as a starting point for genetic predisposition towards autoimmune disease. But i could be wrong. :) > No problem. I don't mind the many versions of KCat i've seen. Kat, KitCat, > KCatwoman, etc. Hubby calls me Kitty when he thinks I'm being "cute" (his > word, not mine. My word be "smart*ss") LOL, think I'll just leave it to KC now then ;) > oh... BTB - on the hypermobility. There appears to be a very mild > expression of Marfans in my mom's family which showed up in my daughter. > Verrrry long limbed, mild MVP, etc. Is it really Marfans, or does it just look like it? I know I am going a bit off topic here, but it seems that about 1/3 of the patients with HMS have the marfanoid body type, which we call the marfanoid habitus. Many patients have MVP as well, and as said- many of us are spandy. I do have some signs myself, but not many. When there are many crossover symptoms, the diagnosis of Marfans is made when there is either lens dislocation or aortic root dialation- both things you don't see in HMS or EDS (Ehlers Danlos Syndrome.) I know that because Marfans is more well-known then HMS by most physicians, many HMS folks get the diagnosis of Marfans first or were suspected to be Marfans once. So what I'm basically saying is: IS it Marfans or rather HMS? > since all of this is part of the connective tissues (Lupus, HMS, Marfan's) > it would make sense to me that genetic studies should be looking at the > Marfan's loci as a starting point for genetic predisposition towards > autoimmune disease. But i could be wrong. :) Well I don't know. Of course there is a huge difference between the HDCT's (hereditairy disorders of connective tissue) and the connective tissue diseases. Do you mean you think they are related? In any way, the type of connective tissue being affected in Marfans is much different then the one in for example HMS/EDS. In Marfans it is fibrillin, in EDS it is collagen, and the type of collagen affected in HMS or the hypermobile type of EDS (some say these are one and the same) has not been found yet. So though they say it is probably a collagen disorder, for all I know it could be the elastin or the tenascin or whatever, but I don't know enough about it, I guess. And I don't have a clue about what exactly is affected in the connective tissue diseases, but maybe one of you does? About the Marfans locus-thingy: researchers were once very excited when they discovered that it was caused by mutations in the fibrillin-1 gene, but then after that they found out that over 200 such mutations where discovered in people with Marfans, almost one for every family investigated. So they found something yet, but also that it is not as simple as it may appear ;). > oh... BTB - on the hypermobility. There appears to be a very mild > > expression of Marfans in my mom's family which showed up in my daughter. > > Verrrry long limbed, mild MVP, etc. > > Is it really Marfans, or does it just look like it? Honestly - we don't know. There's only so much history to go back on and no one has had extreme enough symptoms to rule it out or in. It's more just a matter of it *looking* like it. Several folks on my mom's side of the family are verry tall. All have MVP. My daughter would be taller than she is but got hit with hypothyroidism in her early teens. When we started the thyroid - she shot up but is still only 5'7" Yet her arms, legs, hands, fingers toes - loooong. Sometimes it's a bit odd looking to some people. > symptoms, the diagnosis of Marfans is made when there is either lens > dislocation or aortic root dialation- both things you don't see in HMS > or EDS (Ehlers Danlos Syndrome.) > > since all of this is part of the connective tissues (Lupus, HMS, Marfan's) > > it would make sense to me that genetic studies should be looking at the [quoted text clipped - 4 lines] > HDCT's (hereditairy disorders of connective tissue) and the connective > tissue diseases. Do you mean you think they are related? I mean - that a lot of genetic traits are carried on the same section of a chromosome as certain other genetic traits that are otherwise unrelated. So that if during the meiotic or mitotic processes these parts of the chromosome tend to "move" in tandem, though one doesn't influence the other and isn't directly related, they can be seen within parts of the gene pool as co-existing. there is a real world example of this to do with eye color but my genetics book is packed. > tenascin or whatever, but I don't know enough about it, I guess. And I > don't have a clue about what exactly is affected in the connective > tissue diseases, but maybe one of you does? Most of what I've read is in reference to collagen - hence the other term for CTDs - Collagen Vascular Disease. The categories are defined more by what organs/tissues take the greatest hit. Scleroderma is largely about excess collagen deposited in the skin and other organs. Lupus tends to affect connective tissues in a very general way - inflammation - and of course, affects the blood (a connective tissue in itself) in various ways. RA is focused more on the connective tissues around joints and causes swelling and pain. While "Lupus arthritis" doesn't generally cause joint swelling (but can) but mostly pain. > such mutations where discovered in people with Marfans, almost one for > every family investigated. So they found something yet, but also that > it is not as simple as it may appear ;). Pretty typical of genetics research. I remember quite a lot of hubbub over "the gene the causes Lupus" but that hubbub has died down significantly. I haven't kept up with it so can't say what the thoughts are about it. Or what chromosome it's located on, etc. And of course there are other genes that predispose us to various conditions. BRCA1 for example. This gene predisposes an individual to breast cancer. But doesn't gaurantee that they will get cancer. And sadly, it only accounts for a very small percentage of breast cancer cases therefore we have to assume that the causes are many and pinpointing any single cause in hopes of curing it will be difficult at best. Just as is assumed for Lupus. Signature--- KCat For Pen Talk, Images, Trading and Reviews: The Fountain Pen Network http://pagesperso.laposte.net/fpnet For Lupus Support and Info http://www.ghg.net/schwerpt/ASLFAQ/ that's my understanding anyway Wow, you seem to know a LOT about it! Yes what you say makes sense. Fingers are not co-operating right now, so I'll keep it short. About the Marfans-or-not thingy: maybe it makes sense to look into the HMS a bit more? As I said many of us have crossover symptoms with Marfans, especially the body type (tall an slim, and long fingers, arms, legs and toes). Has your family ever been assesed by a geneticist? > especially the body type (tall an slim, and long fingers, arms, legs > and toes). Has your family ever been assesed by a geneticist? heh... nah... my family doesn't even like doctors or anything that looks like a doctor. Endometriosis is thought by some to be an autoimmune condition. Or at least, last I heard it was being investigated as such. Let me see if I can write this so it makes the most sense. Instead of repeating "tall, long-limbed" I'll say "Marfan-ish" Me: UCTD with some hyperflexibility. Mother: Sjogren's, Endometriosis (hysterectomy at 36), Hypothyroidism (since 30s) Sister: SLE, Endometriosis (hysterectomy in late 30s), possible MS - the doctors are still arguing over this Daughter: Hypothyroidism, MVP, Marfan-ish, hyperflexible. (feet behind her head trick) Maternal Aunt: MVP, Marfan-ish. Maternal Cousin: (Said Aunt's daughter): Endometriosis (hysterectomy at 16!), Marfan-ish. Maternal Grandfather! - Marfan-ish. No idea of his overall health other than he had bad knees back in a day when knee replacement wasn't available. He might have actually lived into his 70s or 80s if he hadn't smoked his way to emphysema. I don't know about hypermobility/flexibility in my cousin/aunt/grandparents. It appears that this plethora of interesting syndromes/traits are from my grandfather. But you can see the odd constellation of these conditions and that's why I am curious as to the connections with uh... connective tissue disorders that aren't necessarily autoimmune. To my knowledge, there are no autoimmune conditions that my aunt or cousin have had problems with (with the jury still out on endometriosis being autoimmune). It's just another one of those things that makes me wonder about chromosomal linkage. babbling 'cause I have nothing else to do. :) I didn't know that endometriosis could be an auto-immune problem. I know there was a discussion about it on an HMS-board a while ago as to whether or not it could be related to HMS, as they were both tissue related. To be honest I don't think that makes too much sense, and as they are both relatively common disorders (and both underdiagnosed, for that matter) it would not be strange for one individual to have both disorders. I can see your interest re your family, and I do think there are many links that haven't been looked in to properly. I have heard of many HMS peeps with all sorts of other rheumatic conditions running in their families, and some things seem to be just too much of a coïncidence to me. Hmmm, do you have relatives that have only one of the both things? Just to rule out that we have indeed two unrelated conditions that happen to run in one and the same family? > But you can see the odd constellation of these conditions and that's why I > am curious as to the connections with uh... connective tissue disorders that > aren't necessarily autoimmune. To my knowledge, there are no autoimmune > conditions that my aunt or cousin have had problems with (with the jury > still out on endometriosis being autoimmune). It's just another one of > those things that makes me wonder about chromosomal linkage. Still it would be interested to know what a geneticist would say about that :). Your family seems to be very much like my father's family when it comes to doctors. When my grandpa had his heart attack he even waved it away and told the doctor as he arrived he was kind of ok! But I wouldn't worry about the Marfan-thingy if I were you. That is, if none of your relatives was ever diagnosed with heart problems that could be related to Marfans, nor any of them died at a relatively young age from aortic rupture. If this didn't happen in your family, changes they have Marfans are about zero, and I'd say they -and you?- probably have HMS or a type of EDS. > babbling 'cause I have nothing else to do. :) Don't worry, I like babbling ;). >Urgh, KCat I think I read Andy called you Kitty You forgot the BAD >but then I suddenly >thought maybe that's not your name.. er, so sorry if that wasn't >correct, I did mean to adress you, though ;). Oh, you can call her what you like... and she'll answer if she wishes. SignatureAndy Taylor [Chair, N E Lupus Group] See http://www.northeastlupus.org.uk for more! > >Urgh, KCat I think I read Andy called you Kitty > [quoted text clipped - 5 lines] > > Oh, you can call her what you like... and she'll answer if she wishes. So I've seen! LOL > > Oh, you can call her what you like... and she'll answer if she wishes. > > So I've seen! LOL such is the prerogative of The Cat! |
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