Possible MCTD and Vasculitis

Hello @skye13 -- Welcome to Mayo Connect. Connect is a good place to ask questions and learn what others with similar health problems are doing for treatments. It can be frustrating when you are not able to get answers and it's easy to feel down but you are not alone. It can sometimes be very difficult to get a diagnosis. Asking questions and being your own advocate is a good thing and can help you learn as much as you can about your health, diagnosis and possible treatments. There are a couple of discussion on Connect you may not have seen that might be helpful for you:

– Undiagnosed auto immune disease: https://connect.mayoclinic.org/discussion/undiagnosed-auto-immune-disease/
– MCTD (Mixed Connective Tissue Disease): https://connect.mayoclinic.org/discussion/mctd-mixed-connective-tissue-disease/

I’d also like to introduce you to a few active members talking about connective tissue disorders. Please meet @jewel8888 @luladavis @regeanna @faithandlove @jimmorris900 @judeeo @lisaann03 @reagan1mc. I hope they can offer some suggestions or information from their own experience.

Also, here are some Mayo Clinic resources on vasculitis that may be helpful:

-- https://www.mayoclinic.org/diseases-conditions/vasculitis/symptoms-causes/syc-20363435
-- http://healthletter.mayoclinic.com/editorial/editorial.cfm/i/350/t/What%27s%20new%20in%20vasculitis%3F/
-- Vasculitis: What you need to know - Mayo Clinic - YouTube
https://www.youtube.com/watch?v=rbaGrbQtAvI

I'm also tagging @kanaazpereira to see if she has any thoughts on possible MCTD and vasulitis.

John

@skye13 Hi, Skye. That is one of the best names in the English language. Anyway, I know what it is to have a tough time getting a decent, honest diagnosis. You mention "sore throats, left flank pain, nausea and vomiting, fevers,sharp chest pains, swelling and redness of my hands and eyelids and area around eyes turning red, ..., fatigue, aches and pains in my legs and arms/ wrists,hematuria, occasional proteinuria, positive anti rnp and smith antibodies. Positive Ana speckled." The ones you mention, we share. You are calling it MCTD, I know it by another name, Amyloidosis, in particular hATTRwt. Primary, systemic, hereditary TransThyRetin wild type. I, also, live in a rural area with very low grade medical services. Once you get out of the ambulance, you are pretty much on your own. But don't fret. Just take responsibility for your own care. Do you have a doctor who cares, and tries, but just cannot do the job? If so, have that doc call AlnylamAct.com, and get you enrolled in their DNA program to check what sort of disorder your ANA is referring to. And have the doc order a SERUM FreeLite(c) (sFLC) assay and 24hr proteinuria assay, both from top labs such as ARUP Labs in Salt Lake City, or Mayo-MN (Quant), or such as City of Hope in Los Angeles. This will give you and your doctor what directions are needed to complete the dX. And I suggest you read my story of hATTRwt, available free, from https://bit.Ly/1w7j4j8 "Amyloidosis". It is some stuff about Amy, and my symptoms and signs, nearly all taken from doctor/lab/clinic reports. Finally, I suggest you write down everything, not just the stuff you think is important. You never know what will be the turning point. such as black spots on the toe, or hematuria, or purple eyelids. old karl

Thank you for the resources. I saw a another rheumatologist yesterday and he said my rnp is too low positive to have mctd and he Cant diagnose me with anything other than uticarial vasculitis and he doesn't know a lot about that so I should go to a derm clinic at Harvard. Anybody know about what level rnp u need to have to be considered mctd?

Did you go to John Hopkins? What did they diagnose?

My appt at Johns Hopkins isn't until April. I'm not sure where the best place to go is because I thought since I definitely have uticarial vasculitis it would make sense to see someone at a vasculitis center- but then a different rheum suggested I be seen at a derm clinic at Harvard. If all I had was uticaria I wouldn't be all that concerned about even treating whatever I have but it's the rest of the symptoms that scare me and make me think I need to figure out what is wrong before it does too much damage. So I have the appt at John Hopkins but I'm not even sure what to do.

Go to the Vasculitis Foundation web site! Tons of info!

I see you wrote in 2018. That's when I got dx w/ the same. I got to a Derm at Stanford who suggested Xolaire, Omalizumab. It was off label. Many rheumatologists poo-pooed it, but I opted for it. I've been symptom free (except for fatigue) ever since I got the 1st monthly injection.

I see you wrote in 2018. That's when I got dx w/ the same. I got to a Derm at Stanford who suggested Xolaire, Omalizumab. It was off label. Many rheumatologists poo-pooed it, but I opted for it. I've been symptom free (except for fatigue) ever since I got the 1st monthly injection. The dry I see is Dr. Mathew Lewis.