Recent diagnosis of MCTD

[Jrob14]

hi

Short question has anyone been diagnosed with MDA5 antibody or does anybody have any information about this pls, looks like a rare antibody with a poor prognosis TIA

[OldTed60]

Hi Jrob14,

Sorry you’ve had no replies so far but the question you are asking is very rarified even for rare disease communities. I looked up MDA5 after your Lupus UK post and it is strongly associated with Amyopathic Dermatomyositis (CADM). So you might be better off putting this name in the title of your post and also search bars on other UK Myositis communities - rather than just the name of the antibody.

From 13 years of being on various rheumatic disease patient communities I’ve learnt that a diagnosis of MCTD is usually given for those carrying the U1 RNP antibody. Carrying several antibodies is often classed as UCTD unless a specific autoimmune disease has made itself abundantly clear through signs and symptoms such as skin, in which case it’s called Overlap CTD.

Personally I carry one rare Scleroderma antibody called U3 RNP- usually associated with a younger onset, more often African American ethnicity with a poorer prognosis of diffuse scleroderma plus myositis, cardiomyopathy, pulmonary arterial hypertension and severe GI involvement. Yet I was 57 when this antibody first showed and caucasian and only diagnosed with seronegative Sjogren’s (by lip biopsy and symptoms) at the time. They rechecked my immunology many times because it’s such a rare antibody and I don’t fit the typical cohort. It was still highly positive and within a few years I’ve developed severe GI involvement, requiring urgent stoma surgery last year. But as for the rest - so far I’m clear although I am fairly sure I have mild Polymyositis and my Raynaud’s is quite bad plus calcinosis, telengecstasia etc. But I do think treatments such as Mycophenolate have effectively stalled the disease progression apart from in my gut. And the damage done to my entire GI tract occurred when I was still undiagnosed/ misdiagnosed with seronegative RA and Sjogren’s so not effectively treated.

One thing I have gathered along the way is that prognosis is often more favourable the more antibodies we carry. It seems to dilute the more serious symptoms and signs. Unfortunately I only carry one antibody which I guess is why my gut has been so badly affected. But the main thing is getting diagnosed and treated as soon as possible and it seems that your husband is in this category so hopefully this will help him greatly 😊