Hi, I am a 30 yo male that is going through a little bit of an adventure as I travel down the path of medical mysteries on my way to figuring out what in the world is going on. Maybe someone here can help. Lupus has been mentioned but not diagnosed so I am clueless to what is going on. It all started with just being tired all the time. I went to a few sleep studies that ruled out sleep apnea and narcolepsy but indicated extreme fatigue so I was diagnosed with ideopathic hypersomnia. What that means, from what I gather, is that I sleep well but am tired all the time and they don't know why. Real helpfull, right?
Anyways, the pulmonary docs at the VA (yes, disabled vet seeking care at a VA hospital) stated that they wanted to complete an MRI to check for Arnold Chari malformation. Not to long after that appointment and before my MRI I had a stroke. Yes I agree, 30 year olds aren't suppose to have strokes, hince my concern. Lol. Anyways, after being admitted to the VA for 6 days and in and out of the critical care unit (admitted for stroke like symptoms to inlude tremor on left side, left side weakness and partial facial paralysis on the left side) plenty of test were run. Some items to note out of the tests that were run are a consistantly low platelet mean volume and consistantly high Erythrocyte Mean Corpuscular Hemoglobin Concentration, a low ACE level and a Really high Renin level (118 and max range is 5.82?). Another thing that was to note and may point toward Lupus is something called a Coagulation Dillute Russell Viper Venom Induced which was positive.
I know that I have seen the diagnostic criteria and symptoms of SLE but I am not sure if that is what I have going on or not. Cronic fatigue is a big issue, joint pain, etc. I have had unexplained rashes but mostly on my trunk (back or stomach/ribs) and I had one disc like rash on the left side of my stomach that was red and raised and about the size of a large grapefruit but it didn't scar. I haven't had any rashes on my face, am a male, etc. so do you think these symptoms and tests may lead to a diagnoses of Lupus? Who knows. Wished we could figure it out. Total list of symptoms include Chronic Diarhea which is diagnosed as IBS with predominit diarhea, chronic fatigue which is diagnosed as idiopathic hypersomnia, high blood pressure, joint pain (primarily knees, ankles and elbows), back pain, constant headache that can wake me up at night, night sweats that will soak a tshirt at times but not everynight, shortness of breath, chest pains when inhailing deeply, poor pulmonary function (had a Pulmonary Function test that indicated my lungs function at 60 - 70 percent of what is expected) and just a general ill feeling. Who knows. Make any sense to anyone here? I know that I have had a lot of tests most are normal but some are definitely not and nothing seems real consistant. The last time I seen a general physician he stated that he knew no one liked hearing that they are an interesting case but if there was anything he could tell me was that I am an interesting case. I go back to the doc (neurology and my regular physician) next week and want to have at least a clue when I go to see them. Any help is appreciated.
I'm so sorry for your plight. I have very similar issues. One thing I could suggest, (and it sounds like you already are) is to get your hands on all of your lab results. What one doc says is "normal" could be a clue for you or another doctor. Lyme's disease is treatable and it really sounds like that may be the source or at least one of the causes. You have to find a LLMD in your area; otherwise you're wasting your time on even asking for a test. Make your docs to Parasite testing, too.
Wishing you all lots of good days....in a row.
Tammy in SC To view links or images in signatures your post count must be 10 or greater. You currently have 0 posts.
Thanks for the reply. When I was in the hospital they actually completed a spinal tap and tested for lime disease and MS, both of which were normal. I have access to all of my lab work through a VA medical center website. Although the results come slowly and have to be marked as reviewed and released by the Docs before I can see them, I do get to look at them eventually. If anyone would like to know the specific results of any tests or anything then please ask. As long as I can find it I will let you know what they were.
I tested positive for Lymes the first time, but many people on the Lymes section talk about false negative tests. I don't really understand how that works, you may want to google that. I would think if you got the Spinal Tap results and find a site that helps you interpret the reading. THEN, when you get a name for something, research it further for a link to a GENE, that may be the culpret. There is gene testing and research to target that particular GENE to TREAT the condition. Not just give you drugs that MAY help some symptoms; while causing even more. This is very exciting to me, you are waaaaay ahead of the game, so far. You'll get there. PLEASE don't forget to share your answer with me (and everyone).
Wishing you all lots of good days....in a row.
Tammy in SC To view links or images in signatures your post count must be 10 or greater. You currently have 0 posts.
Hello & welcome. I'm sorry you have so much on your plate. To be honest, only one test you cited rang a strong bell with me: Dilute Russell Viper Venom. Have you seen the "sticky posts" at the top of the thread list? There you'll find info on systemic lupus (SLE), also on antiphospholipid syndrome (APS). APS is an autoimmune blood clotting disorder in which the body's immune system mistakenly attacks some component of blood---I think a fat---causing blood to go "sticky", which promotes strokes, migraines, etc.
Some percent of people who have SLE also have APS, but it's possible to have APS "standalone", without SLE, I believe.
What I don't have a clue about (sorry) is whether one condition (like APS) could cause the OTHER findings you've gotten so far (low platelet mean volume, high ACE, high BP, high renin, etc.) Conversely, I don't know if elevated Dilute Russell Viper Venom is seen ONLY in APS (sorry). Some lupus hardcovers you could find in your local library also cover APS thoroughly. I'd look for such hardcovers, to read more about both APS & SLE.
Those hardcovers would enhance your understanding of the lupus diagnostic criteria, which have many subtleties embedded! For example, you generally must meet 4 or more of the 11, but not necessarily simultaneously. Think of checking each off in indelible ink, once met.
Another oddity: ANA is a nonspecific test that can be positive in a raft of conditions, not just lupus. Another oddity: only several autoantibodies are listed, but there are actually quite a few more possible. (It's because those listed are viewed as "specific" to lupus---like anti-ds-DNA and anti-Sm---while many others aren't "specific".)
You'll see in that list anticardiolipin and lupus anticoagulant. Oddly, these are signs of APS, not lupus per se, as I understand it.
As for rashes, you don't "have" to have lupus-specific rash to have lupus. I think something like 70% of people with lupus do get lupus rashes at some point in their disease, but that leaves a lot of room for someone with lupus to NEVER have a lupus rash.
What you said about Renin stood out because I'd never heard of it, so looked it up & saw listed such things as kidney disease, blockage to kidney artery, Addison's, cirrhosis, "malignant high bood pressure", etc. Lupus can affect kidneys, but I don't know whether *lupus kidney involvement* causes a high "renin" level. On standard bloodwork, signs of kidney involvement include elevated BUN and creatinine---and in urinalysis, a finding that protein is spilling into urine. (Another poster suggested getting copies of all your labs, and I'm also guessing basic CBC, urinalysis, etc. were run multiple times.)
Re: symptoms, I had same things you list (plus some others), but excluding high BP and decreased pulmonary function. While I'm only a dumb patient, it makes sense to me that you see a rheumatologist, to rule lupus in or out. Another thing that suggests consulting a rheumie: that elevated Dilute Russell Viper Venom...
I also want to say, WELCOME HOME. I hope you post again when you can, OK? Bye for now, with my best wishes. Sincerely, Vee
Last edited by Administrator; 05-03-2012 at 10:39 AM.
Thanks both for your replies. I appreciate all the information. SleepyTee, the tests that were done via spinal tap were BORRELIA BURGDORFERI AB.IGG, BORRELIA BURGDORFERI AB.IGM, BORRELIA BURGDORFERI DNA, PROTEIN FRACTIONS.OLIGOCLONAL BANDS, TREPONEMA PALLIDUM AB, GLUCOSE and PROTEIN. All of which were normal, non-reactive or not present as applicable. These tested for Lyme, which they did a blood test for lyme as well, MS and something else. They were fairly certain I had lyme until those tests came back negative. They actually kept me on the antibiotic and had me complete them just in case. After that they pretty much just scratched thier head and said follow up with my regular Doc because they couldn't figure it out and had tested me for everything that would need to be handled right then and all was fine. Who knows. Just hope they figure it all out. The last time I seen a primary care doc he sent a consult to the rheumie to ask if they wanted to see me or could suggest any tests. The next day I was called and informed that the rheumie wanted me to go in and give some blood for tests. 12 vials of blood later I was worried if they had left me any. I haven't received all of the results from that yet, hopefully I will on Tuesday. Some of the results have came in and marked where I can review them but I see nothing that rings a bell with all of the anti-? tests that yall have mentioned. I know they tested me for CARDIOLIPIN AB, COAGULATION FACTOR VIII ACTIVITY, PROTEIN, HAPTOGLOBIN, ALBUMIN, ALPHA 1 GLOBULIN, ALPHA 2 GLOBULIN, BETA GLOBULIN, GAMMA GLOBULIN, F2 GENE.P.G20210A and F5 GENE MUTATION ANALYSIS, all of which were "normal". The only thing abnormal on the results for that set of tests that I can see so far is ANTITHROMBIN which was high, but only slightly and from what I can tell a high level of that is clinically insignificant. So who knows. Anyones guess is as good as mine as I am lost. I know there were other test completed that just haven't been made available to me yet so hopefully they are in by Tuesday and the doc has seen them. Does this sound familiar or significant/unsignificant to either of you or anyone else on the boards as either an indicator for or against a lupus diagnoses? Like I said none sound like the anti-?s that have been mentioned but I could just be off or that could be part of the tests that have not been made visible to me yet. Who knows. Any advice is greatly appreciated.
After reading some other posts I thought I would mention a couple things. I have seen others talking of some similar symptoms that I had not mentioned. I have had a 'cold sore' for probably two months if not longer. I was taking Modafinil which makes cold sores prevelant but I have been off of that for over a month and it hasn't went away. I to have had kidney stones, twice but didn't think much of it other than kidney stones. Um, I know there was something else I was going to mention, just can't remember it. Oh yea, memory problems. Lol. Seriously, there was something else (other than memory problems). Guess I will list that when I think of it. Thanks again and any advice is greatly appreciated.
Poorrich, the last set of tests you listed are mostly new to me, but they seem to be about coagulation disorders, both inherited & autoimmune?
I just checked what tests evaluate for APS. These 3 must come back hinky on 2 or more occasions at least 12 weeks apart to support a Dx of APS. Do you see all of these?
(1) Lupus anticoagulant
(2) aCl (ANTICARDIOLIPIN) IgG or IgM
(3) ANTI-BETA 2 GLYCOPROTEIN 1 ANTIBODIES (IgG or IgM)
[I saw your mention of negative ANTICARDIOLIPIN AB, but don't know if that's the same test as the Anticardiolipin IgG and IgM cited above, sorry.]
Re: antithrombin, have you had brain scans? The single mention I saw of when elevated antithrombin is actually significant is some sort of slow subarachnoid brain hemorrhage.
Re: SLE blood tests, typical ones include C3 and C4 levels, ANA, anti-ds-DNA, anti-Sm, anti-Ro, anti-La, anti-RNP, rheumatoid factor, antihistone, antiphospholipid, antierythrocyte, etc. (Wish I could recall more... I loaned my hardcover, sorry. One of the hardcovers written for patients lists approx. 15, of varying specificity.)
Re: "drug-induced lupus" (DILE), tests include ANA, anti-ss-DNA and anti-histone. (Ironically many common meds have been implicated in DILE, incl. antibiotics and BP meds.)
There are also skin tests for lupus. One of its hallmarks is deposition of circulating immune "junk" between dermal & epidermal layers of skin. In a "lupus band test", deep-punch biopsy is done on lesional or non-lesional skin, photoexposed or not. Punch is examined under microscope, then immunofluorescent stain tests are performed (I think they used "Alcian stains" on mine.) If linear "bands" are discernible, lupus is considered proven. While such bands are considered diagnostic, many but not all people with lupus will have a positive result. Biopsies on LESIONAL skin are most effective when the rash is "fresh".
There are also people with lupus who don't get many positives on the usual diagnostic blood tests. Let's say someone's many lupus tests came back with few positives, but there was protein in urine consistently---some drs. might move straight to kidney biopsy. Of course conditions other than lupus can affect kidneys. Have you seen a nephrologist? With high BP (which can harm kidneys), elevated RENIN, and multiple occurrences of stones, maybe that's indicated?
When you collect test copies, you could tape blank paper along one side, to give you a big blank margin on which to annotate each test. (My creations looked like giant spreadsheets prepared by a lunatic. ) Anyway, I hope you get additional results back soon that give more shape & meaning to all this. With my best wishes, bye for now, Vee
Last edited by Administrator; 05-03-2012 at 10:40 AM.
Thanks again Vee. I am not sure if the tests are the same either. One of the reasons things are so confusing. I have had numerous brain MRI's when they were looking around for the cause of my stroke, but those were before the high antithrombin so who knows. That is one of the things that is so confusing. I see many of the tests listed here that would indicate Lupus or not, some may be positive, some may be negative or a 'false negative' but none of them match up specifically to what the tests are labeled on the program where I can view the results so I am not sure if I have been tested for the important things when it comes to Lupus or not. The thing that aggravates me the most is when I am able to see all of these results that are abnormal and out of range but yet none are consistent for any particular disorder so they just lead to more tests in a search for a diagnosis. Then it gets a little more frustrating when I can go to the test results and not actually see the result. I made a trip to the ER a couple weeks ago because my BP shot up to 200/113. They drew the normal labs and on the results section for several tests (ERYTHROCYTE DISTRIBUTION WIDTH, ERYTHROCYTE MEAN CORPUSCULAR HEMOGLOBIN, ERYTHROCYTE MEAN CORPUSCULAR HEMOGLOBIN CONCENTRATION, ERYTHROCYTES and MEAN CORPUSCULAR VOLUME) the results all say 'COMMENT' and in the comments section it just says that additional verification was done via saline replacement. That would lead me to believe that the results were abnormal but I don't know what degree and if they were high or low since the results themselves were not actually posted. During the same visit I do know that the following abnormal results were indicated as well: ANION GAP - High, ASPARTATE AMINOTRANSFERASE - High, CARBON DIOXIDE - Low, PROTEIN - High and UREA NITROGEN - Low. Once again though I can see what these results would indicate but not sure if additional test required have been completed and nothing is conclusive or consistent for a specific disorder. I have seen places mention how Urine is looked at to judge kidney involvement. The only time I have had urine tested was a 24-hour urine collection during my hospital stay and everything was normal there. Either way hopefully I can find out more about what the doctors are thinking and which avenue of approach they are going to take during my appointment next week. Main thing from this message board that I am attempting to determine is considering the positive test for a Lupus antigen (or at least I think that is what the Russell Viper Venom positive indicates) and my symptoms whether or not Lupus would be a good avenue for them to approach or for me to insist on further testing for Lupus if they don't see that as a path. Thoughts?