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6162104 tn?1379450666

Recent flare ups with genetic autoimmune history

Since August 2013 (through to now  Sept 2013) I've been noticing "flare ups" - which I never used to get. This is concerning for me as my mothers side is full of autoimmune diseases. My grandfather died of lupus and my mother is currently waiting diagnosis (sjrogrens, sarcoidosis, linear scleroderma to name a few possibilities). Her ANA always come back negative; her ENA always comes back positive.

For years (approx 10, i'd say; i'm 26) I've had broken blood vessels ONLY on my right forearm. Over the last 3 years, they have branched onto my upper arm. Through the pregnancy of my first daughter, they again branched onto the right side of my chest. The dermatologist told me they are a) from the sun and b) from puking profusly (I had unreal sickness all 9 months). He said they would go away in the winter; they do blanch. However, they have not gone away - they are more prominent now and my daughter is 2 in October.

In "my photos" I have a few pictures of what i'm dealing with - ranging from beginning of August to this last weekend. The "flare ups" start with the same sensations; swollen, itchy, hot/painful to touch, last 2-3 days, usually has a red circle/line through the inflammation and usually (not always) on a joint. First day is the most painful/prominent. The 2nd day the inflammation has usually gone down but is still visible and hurts to stretch joints - no pain to curl them. By the 3rd day - all inflammation is gone and very minor pain. I've also noticed during these flare ups - its only one side. Example: if the palm side of my finger is swollen, it only hurts in the immediate spot - not the back side of the finger/side of the finger etc....

Some other "off" things i've noticed (that do not stay for the 2-3 days as the "flare ups" do) is : swollen neck muscles, swollen forearm muscles, red large circles about golf ball size around my elbows and knees.

I'm currently awaiting the results and waiting to see a rheumatologist and dermatologist and allergist. SO far my ANA is negative; awaiting ENA results. Also awaiting more results for my thyroid, antiCPP, etc.
6 Responses
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1530171 tn?1448129593
Hi CheyanneP.

Look also into the possibility of unresolved Hypothyroid function as an underlying cause of some or all of the suspected and recently diagnosed conditions, regardless of labs and treatment.
There's Hypothyroid type 2, just like diabetes 2, where there's thyroid hormone resistance, so serum levels are all fine when tested, except the cellular thyroid function is impaired. TSH, T3 and T4 serum levels do not reflect cellular thyroid function! Free T3, Free T4 & Reverse T3 levels must be checked.
Unfortunately, it is not an "established" diagnosis in Endocrinology, so most patients suffering from this, are not properly diagnosed and remain in medical limbo,and many of which develop serious conditions, specially when there's organ involvement.
One more point of interest: Unresolved low thyroid while pregnant will affect the baby (if not at birth possibly later in life), as the fetus depends solely on the mother's thyroid until the the end of the first trimester.

Your email does not appear for privacy reasons.
Send me a pm if you're interested.

Best wishes.
Niko
Helpful - 0
6162104 tn?1379450666
Just a heads up everybody - I have a diagnosis as of last week.

Since this started (Aug 6) I have had over 50 lesions/attacks show up all over my body. Big red wheals and flares that last more than 24 hours.

Get your pens.......
1) Dermographism
2) Delayed Pressure Urticara (DPU)
3) Angio-Edema.

All present and active.

Went for skin biospy this week at Derms office - awaiting test results of Urticaria vs. Urticarial Vasculitis.

See Rheumatologist in February. As stated before, my mother has an undifferentiated connective=tissue disease and after doing some more digging...my fathers side has a history of angioedema.

If anybody wants to talk further on this, please feel free to get ahold of me here or by email.

riotriot_upstart***@****

Thanks!
Helpful - 0
6162104 tn?1379450666
Both her and I are aware of that - but the specialists - in terms of diagnosis - are the ones that give it a name and you have to tell them otherwise (atleast, that's been her experience). In our minds, we have no doubt that is what it is.They are hesitant to call it.

I had a reaction last night. I'll post pictures. I came home from my game and washed my hands in cold water. My left palm (only) immediately became painful/itchy and lasted 5 minutes. THen I washed them again (bathroom break) and it did the same thing.
Later I had a shower and thats when I had a huge "flare". 2 different types of rashes are present - 1 that is solid (inner forearm there is a half-moon solid rash accompanied by swollen muscle/tissue.) and the other rash is a spot-like rash. Mostly on my right forearm (just the underside - not the topside). Minimal rash on my left arm.  Painful to sleep as could not find comfortable position for my forearm to lay.

The red spots on my skin do vanish/blanch and then come back. Derm said exposure to sun and nausea during pregnancy caused it and it would go away in the winter.

Helpful - 0
1756321 tn?1547095325
"It is not necessary to have all five symptoms of CREST syndrome to be diagnosed with the disease.[1] Some doctors believe only two of the five are necessary for a diagnosis.[2][3]" - Excerpt from: Limited scleroderma - Office of Rare Diseases.

Do the red spots on your skin vanish for a quick second when you press on them?
Helpful - 0
6162104 tn?1379450666
This is something that my mother has on her nose/cheeks/chin and legs. CREST is something her specialists have entertained as she has the Calcinosis, Sclerodactyly and Reynauds components however because she does not appear to have the Esophageal part, they will not confirm this disease. My mothers disease went into remission for about 10 years before they could diagnose her;  6 years ago she got a cold and it triggered whatever autoimmune/connective tissue disease she is dealing with now. In addition to this she also has a large nevus anemicus-like patch on the left side of her neck/chest.

I've put a picture in my albums of my arm & chest as well as other funny things recently appearing on me. Hopefully someone will review and say "hey, thats familiar".

When I see my dermatologist next month, maybe he can give me a name for it - as 3 years ago the other derm in his office did not call it and said it would disappear - when its done the exact opposite.
Helpful - 0
1756321 tn?1547095325
Telangiectasias are fixed dilated blood vessels that blanch with pressure. They can occur on their own, after skin injury, or may arise due to an underlying condition.

Autoimmune diseases that cause telangiectasias include connective tissue diseases, CREST syndrome/systemic sclerosis, dermatomyositis, lupus erythematosus, angiolupoid sarcoidosis, pernicious anaemia.
Helpful - 0
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1756321 tn?1547095325
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