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Old 07-16-2013, 05:21 PM   #1
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Connective tissue disorder/ehlers-danlos

]I have been working with an immunologist who has been convinced that I have an autoimmune disorder, connective tissue disease but couldn't nail it down. Yesterday she said that was sure that I have Ehlers. Danlos. I have an appointment next week with a genetics clinic at Mt Sinai in NY. The geneticist has lots of experience with connective tissue disorders.

I have had extensive blood work based upon the blood work profile, physical exam and medical history, the immunologist feels that I have EDS and possibly mixed connective tissue disease. I am 57 and have extensive bone spur formation in my neck. My knees aRe bone on bone due to chronic subluxations. My posterior tibial tendon ruptured and I had flat foot reconstruction surgery. Over the past 7 years, I have had several surgeries for bone spur removal, knee stabilization, meniscus repair and carpal tunnel. I have chronically inflamed sinuses leading to reduced lung capacity when I am in flare up mode. I have had chronic post nasal drip since I was a kid despite having numerous negative allergy tests. 8 weeks ago, I had a large pericardial effusion out of the clear blue. I had almost a liter of blood removed. Four days later, blood started to reaccumulate and my upper right chamber began to collapse. I ended up being redrained and had a pericardial window. The biopsied pericardium showed chronic and acute inflammation. Surgical scars heal but there is always a wide scar. The immunologist pointed out that I have minimal cartridge in my ear lobes. The past year, I have been living with brain fog and low energy. I recently started to have occasional Mild tinitus. Blood work shows high inflammatory markers and high compliments as well as low iron saturation. My pulse is elevated and I get winded more easily then normal. My lung capacity is at 83%. The immunology feels that the heart rate , breathlessness and iron may be due to the effusion

My dad was plagued with horrible reflux and severe osteoarthritis.

My 24 year old son has had reflux since he was little. He has keratoconus in both eyes and tons of dark stretch marks on his back and stomach despite being normal weight

I have always thought that my many weird symptoms were related but doctors have always said no up until the immunologist put things together

Does my profile sound like EDS? I am scared that i may have the vascular form.

 
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Old 07-18-2013, 08:48 AM   #2
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Re: Connective tissue disorder/ ehlers-danlos

Hi. I doubt that even a truly gifted immunologist could be "sure" about a rare inherited CTD like Ehlers-Danlos, so I'm really glad you're seeing a geneticist at a teaching hospital. From what I've read about it, the vascular kind is very very rare (good news in the sense that the odds of having that particular form would be really low).

I think pericardial effusion can occur for a wide range of reasons, including infections (viral & bacterial), various CTD's (like lupus, RA, etc.), hypothyroidism, etc.

Have your thyroid levels been checked?

In your labs, which inflammatory markers are elevated? (Just curious.)

Re: elevated serum complement levels, I'd ask which conditions feature high complement levels. I think in lupus, for one example, C3, C4, and CH50, if abnormal, are low, not high---except perhaps in the initial "reactive phase" when they may spike temporarily. Have your drs. named conditions where these can elevate?

You say your immunologist also mentioned the possibility of Mixed Connective Tissue Disorder (MCTD, the autoimmune kind). Have you seen a rheumatologist? I believe it's diagnosed via symptoms, plus having ONLY a positive anti-RNP (meaning OTHER autoantibodies are absent, like those associated with lupus, RA, Sjogren's, etc.).

I wish I had more thoughts, but with E-D being a rare disease, I know very little about it. But I hope you post again & also let us know how your appt. with the geneticist goes. Wishing you good luck! Sincerely, Vee

 
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Old 07-18-2013, 09:12 AM   #3
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Re: Connective tissue disorder/ ehlers-danlos

I think EDS is a possibility, but your clinical picture is not suggestive of the vascular type. The skin and extra joint elasticity with subluxations could fit, but the pericarditis, chronic sinus issues, lung capacity reduced fits more with a mixed connective tissue disease . Do you know if you have ever had an RNP antibody measured? How about ANCA tests, related to Wegener's granulomatosis (sinus problems) and vasculitis? The genetecist and DNA testing will give you an answer on the EDS, and if negative, a rheum should be consulted as well to explore further and pin down what this is. Have you had a chest CT looking for pulmonary fibrosis? It is common in MCTD, RA (can have negative RF in up to 40% of cases). I would also want a ferritin done to see if your iron stores are low since iron saturation was. That can contribute big time to the fatigue and is treatable. Are you anemic? I think you are on your way to getting this diagnosed, now that your immunologist is on the right path. Please keep us posted on what is happening, and once diagnosed, treatment can make you feel better!

 
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Old 07-19-2013, 09:27 AM   #4
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Re: Connective tissue disorder/ ehlers-danlos

The immunologist ordered blood work for ferritin levels as well as specialized labs to take an in depth look at my immune system.

The new results will not be in for a week as some of the tests have to be sent out of state. They drew 14 vials


The following levels were on previous tests

Immunoglobulin E
Compliment total
Compliment C3 and C4
RBC
RDW
EOS
EOS Absolute
Glucose serum
Bun/creatinine
ALT
Hemoglobin
Monocytes
Beta globulin
Sedimentation
C reactive protein
Ebb ab vac IgG
Ebv nuclear antigen AB IgG
Anti DNA

If the geneticist confirms connective tissue disease she wants me to see a rheumotologist at Hospital for Special Surgery who specializes in connective tissue disease

Last edited by roxygirl1; 07-19-2013 at 12:21 PM.

 
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Old 07-19-2013, 09:37 AM   #5
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Re: Connective tissue disorder/ ehlers-danlos

Could chronic muscle pain, tightness, knots in shoulders, neck and traps temporarily relived by deep tissue massage and severe bone spur formation be related to connective tissue disease?

 
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Old 07-19-2013, 11:39 AM   #6
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Re: Tight muscles

Yes, especially the bone spurs because those are caused by arthritis, one of the most common manifestations of the CTD. You can get inflammation in the muscles too, causing muscle pain, weakness, tenderness. It is charcaterized by high CK levels, a muscle enzyme released from inflamed or damaged muscle tissue, verified by EMG, a test neurologists do to chart electrical and motor responses in the muscles. It will be interesting to see how the genetic tests come back, and your recent blood tests.

 
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Old 07-19-2013, 11:58 AM   #7
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Re: Connective tissue disorder/ ehlers-danlos

Is the elevated blood work profile above suggestive of connected tissue disease?

 
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Old 07-20-2013, 12:03 AM   #8
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Re: Connective tissue disorder/ ehlers-danlos

It definitely is. You get inflammation with connective tissue diseases and that raises the inflammatory markers and can either raise or lower complement levels. I think your new set of blood tests will yield some important clues.

 
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Old 07-20-2013, 12:18 AM   #9
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Re: Connective tissue disorder/ehlers-danlos

Were all tests you listed (your 7/19 post at 12:27 PM) ELEVATED? If yes, the most telling may be the anti-DNA---but you need to know which kind: anti-ds-DNA or anti-ss-DNA? Also, how high the level (because slightly elevated might not be significant). Also, whether any OTHER antibody tests are also positive (as some CTD's feature multiple antibodies, not just one).

The "ds" in anti-ds-DNA means double-stranded. If at a *meaningful level*, it's considered virtually specific to systemic lupus (SLE). The "ss" in anti-ss-DNA means single-stranded; it's associated with a different, typically milder, form of lupus called Drug-Induced Lupus Erythematosus (DILE). An array of common drugs can induce DILE in susceptible people, including BP meds, cholesterol meds, etc. The "treatment" for DILE consists of identifying & discontinuing the culprit med(s).

Elevated sed rate and C-reactive protein are general inflammation markers; they can elevate in CTD's or due to infection. ALT is a liver value. BUN/Creatine ratio suggests a closer look at kidney filtering; but this ratio can be high even when BUN and creatine are both normal, causing unnecessary alarm, so check the underlying BUN and creatine values. Elevated glucose can mean diabetes. EBV is probably Epstein-Barre virus, which I think is positive in almost everyone (b/c we've all been exposed to it).

I hope your new tests reveal more. You may be headed to a rheumatologist, only time will tell. But whichever direction this takes, here's wishing the process goes quickly. Hang in there, Vee (P.S. My suburban doctors should have let go of me years earlier & sent me packing to the city. I'm feeling positive about your move, as I think you'll get the help you need.)

 
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Old 07-20-2013, 12:28 PM   #10
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Re: Connective tissue disorder/ ehlers-danlos

Yes, I was wondering too if any of those things tested came back abnormal. That would be very helpful to know. You should see your number with a reference range for normal values next to it. They are often marked high, low, highlighted or asterisked if abnormal. You can post any abnormals with reference range if you'd like.

 
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Old 07-20-2013, 01:33 PM   #11
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Re: Connective tissue disorder/ehlers-danlos

It was the anti-ss DNA. I am only taking cymbalta and omezoprazonale. Could either medication be problematic? I had asked both my primary and cardiologist about the liver and blood sugar. Both doctors said tat the numbers were slightly outside of the norm. They went on to say that recently the norms were changed and that the numbers would have been normal under the old guidelines. Neither were concerned. The immunologist was concerned about the elevated compliment levels and symptoms. It was weird but she had me feel her ear lobe and then mine. There was almost no cartridge there, mainly skin. My husband was also suprised.

I already saw a local rheumotologist who suspected that there was something autoimmune going on but blood work was not conclusive so he said he couldn't find anything

I am waiting or the results of the 14, vials of blood that were drawn Wednesday

 
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Old 07-21-2013, 07:13 PM   #12
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Re: Connective tissue disorder/ehlers-danlos

These were the numbers that were out of range on the most recent blood work

C-reactive protein, quant high 6.3 Ref range 0.0-4.9

antistreptolysin o ab high 388.4 0.0-200.0

rdw high 16.9 12.3-15.4
ab nk (cd56/16) high 408 24-406
% nk (cd56/16) high 20.4 1.4-19.4
mchc low 31.1 31.5-35.5
mch low 21.8 26.6-33.0

complement, total (ch50) high >60 22-60
sedimentation rate-westergren high 57 0-40


ferritin, serum normal 16 15-50

 
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Old 07-22-2013, 12:44 AM   #13
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Re: Connective tissue disorder/ehlers-danlos

Hi. I'd ask my drs. about the one that's way out-of-range, antistreptolysin. That may be an AB that elevates AFTER strep throat, bacterial endocarditis, scarlet fever, rheumatic fever, etc.---which might fit your recent pericardial effusion? (I think some antibody levels can stay elevated for awhile because the immune system continues putting out an AB after the fact.) Also, there's something called "post-strep" syndrome, but I don't know enough about it to even guess whether it's on the radar (sorry).

I imagine they're looking at underlying conditions that can cause pericardial effusion and high complements. From what I gather, an AI condition is a possibility but other things are as well (rheumatic fever, strep, etc.)

When treated for the pericardial effusion, were you given a ton of meds? A med (or meds) could certainly account for the anti-ss-DNA. Weirdly, the symptoms & antibodies associated with drug-induced lupus (DILE) aren't immediate: they rear up weeks or even months after the triggering med (or meds).

Your drs. are obviously casting a wide net, which makes sense. I hope your upcoming results yield explanations, or at least rule out a goodly number of troubling possibilities. Hang tough!

 
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Old 07-22-2013, 06:51 AM   #14
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Re: Connective tissue disorder/ehlers-danlos

Roxy, very interesting that your ASO titer came back so high. That is an antibody that elevates during a strept infection and stays elevated for 2-4 months afterward. Do you remember having a bad sore throat during that time? A pericardial effusion can occur in a post strept reaction of your immune system, like in rheumatic fever. It also causes severe joint pains, stiffness, fatigue, etc. Rheumatic fever has lots of overlap with CTD symptoms, and it is always possible for someone with an underlying CTD to get strept, then get acutely ill or worse from the immune reaction that follows. It is rather uncommon these days, as most people get so sick from strept infections that they go to Dr and get antibiotics, and the rheumatic fever part never develops. I assume they put you on strept antibiotics while in hospital. It will be interesting to see if the ASO titer comes down to normal later on. You have good Drs. taking care of you! The MCH and ferritin is low, indicating you are iron deficient. You should be on an iron supplement with Vit C to aid absorption. If not, please talk to Dr about this. It will help fatigue and prevent anemia.

 
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Old 07-22-2013, 07:16 AM   #15
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Re: Connective tissue disorder/ehlers-danlos

The CD56/16 NK, CRP, sedrate, RDW elevations all fit with a CTD and/or rheumatic fever. Because of your long standing symptoms, I suspect a CTD exists, and then you may have developed a strep infection that preceded the pericardial effusion (a rheumatic fever type reaction). Your immunologist is being very thorough. It will be interesting to see what tests she ordered this time and what her assessment in the end is. The medical stuff is all fascinating, but of course, getting you better is the most important thing, and then perhaps following up on some testing for your son regarding genetics and his symptoms.

 
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