2 yrs ago i developed a rash on thigh but it was under the skin deep reddish purple but only appears in cold weather so had a punch biopsy done which showed work up of collagen vasular disease.Since then seen my primary doc for physical ekg was abnormal with lining of heart thick meantime blood work was positive ana and titer of 1:160 speckled pattern found out i was hypothyroid taking synthroid for it and b12 and vitamin d difiency (deficiency) which i took 4 shots the b12 went through the roof at 2000. sent me to gaestrenterologist for endoscopy which showed i had giardia a parasite took antibiotics which has cleared up now. been seeing a rheumy for this undiagnosed connective tissue disease i've had brain mri which only showed mastoid air cell was inflammed and bone scan which showed nothing. my symptoms are as follows: extreme back pain when waking every morning to the point i have to wash my hair at night because of the pain to blowdry it.headaches, tingling and burning sensations all over body, left leg can only lift so far up because of the pain,muscle twitches , spasms in toes that draw up with pain,hearing loss in right ear, swollen lymph nodes in neck and base of skull ,chest pain,heartburns daily,fatigued all the time, weakness in hands makes it hard to write, sunlight sensitivity break out in rashes also note at 11 i had bacterial meningitis adn now years later i develop all the symptoms .could having bacterial meingitis caused the symptoms over time? still no diagnosis searching for my answer hopefully very soon i will get that...... over the course of 6 months bloodwork showed cbc/diff/pl neutrophils % at 91.4, uninalysis was wbc esterase abnormal,wbc was 6-10 abnormal,tested for rnp,smith,sjogrens and antiscleroderma-70 antibodies which all were negative, sedimentation rate has always been high around 24, had positive pernicious anemia test ,igm serum low at 43 mpv at 4.4..... any suggestions please help.
OK, there appears to be several diseases that are considered connective tissue diseases. I am certainly not an expert on any of this, but maybe I can help you understand this on an elementary level.
Connective tissue diseases that are strictly due to genetic inheritance include Marfan syndrome (can have tissue abnormalities in the heart, aorta, lungs, eyes, and skeleton) and Ehlers-Danlos syndrome (many types may have loose, fragile skin or loose [hyperextensible] joints depending on type).
Other diseases of connective tissue that are not defined by gene abnormalities (or have a weaker genetic factor). They are characterized as overactivity of the immune system which results in the production of extra antibodies.
These connective tissue diseases include:
systemic lupus erythematosus,
These are considered classic collagen vascular diseases. Each of these diseases has a "classic" presentation with typical findings that doctors can recognize during an examination. Each also has various typical blood test abnormalities and a variety of abnormal antibodies that are commonly found in blood testing. However, each of these diseases can evolve slowly or rapidly from very subtle abnormalities before demonstrating the classic features which help in the diagnosis. (in other words, it is probably going to take some time for things to come to the surface) And sometimes the symptoms go away mysteriously and nothing comes of the dx process.
When I read your symptoms I thought about either polymyositis or SLE. SLE can affect every system in your body.
Hello Karajo i know it's been awhile since i've posted during this time i've moved from New York back home to TN. I've seen many doctors here still trying to find a diagnosis. Back in june of 2012 i developed a very stiff and painful neck thought i slept on it wrong went on for 3 days finally my dr sent me for mri of neck showed cervical spondylosis. Also about 4 months ago i developed hard scaly skin on my big toe it doesn't hurt just very weird looking and no problems bending it so far.And i've been having weird burning sensations in my nipples almost like someone's holding a match under them. Tingling all over my back every day my legs and feet seems to fall asleep very easily. Here within last couple months having severe headaches with nausea that seems to last all day also i can always tell when the headaches will hit because when i go to sleep at night my neck hurts to the point were i can't sleep on a pillow i have to lay flat on the bed then the next morning it always hits like a ton of bricks. I've been seeing a rheumy here in Tn without doing any blood test just going off previous drs from New York test that he was ruling out lupus.He is sending me for mri of my brain and spine to rule out MS with all the burning and tingling sensations.I've read alot about Scleroderma and alot of my symptoms seem to point me in that direction i'm just scared that i'm not going to get a diagnosis in time. Please HELP in desperate need !!!!!!!
It looks like your dr is doing a thorough work-up. I think Scleroderma is a strong possibility as it too is considered one of the collagen vascular diseases, but so is SLE. And it is possible that you might have both. I am not as familar w/ scleroderma, but actually know someone with mild scleroderma. She just has a small patch on her forearm and does not have any organ involvement.
Please know that lupus is called the great immatator. Which means it can look like many diseases like MS and scleroderma, etc.
There are 11 criteria for a lupus dx. You must have at least 4 of the 11 to recieve a dx.
1. malar rash over cheeks (butterfly rash) (74%)
2. discoid rash, red raised patches
3. photosensitivity - reaction to sunlight, resulting in skin rash (50%)
4. oral and nose ulcers
5. arthritis (95%)
6. serositis - inflamation (inflammation) of the lining of the lung or heart
7. reanl disorder - excessive protein in urine and/or cellular casts
8. neurologic disorder - seizures, or psychosis
9. anemia or low white blood count or lymphopenia or low platelet count
10. positive ANA
11. positive anti-DNA or anti-Sm, or antiphospholipid antibody or false pos. syphilis test
Other symptoms are:
low vit D levels
shortness of breath
blood in urine
hair falling out (27%)
muscle pain and weakness (90%)
poor circulation in fingers and toes
tingling in extremities
raynauds (where fingers turn white when cold)
intollerance to cold
lymph node swelling (50%)
Another possibility is dermatomyositis. Google information on this and let me know what you think.
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