Mixed Connective Tissue Disease

[Awwy]

Hi,

Last year I started having symptoms with hip, leg, ankle and foot pain. I started an exercise regime abd initially thought it was that. I went to a physio as I thought I had shin splints the pain was awful couldn't walk. I would walk for an hour then not be able to move. (I also have sever endometriosis stage 4) so just felt like my body was falling apart. My fatigue was off the charts. Sleeplessness at night and pain. Falling asleep at random times and not nothing. My personal trainer suggested I get checked for autoimmune. Short story I bern diagnosed with mild mixed connective tissue disease. I have been prescribed hydroxychloroquine 400mg. I've just hit the 3 month mark and noticed a slight difference in symptoms. Anyone else got this? I've never heard of it. What symptoms do you have? How do you cope? If this is mild then i wonder what is worse? 🤔 any support/advice appreciated. What specific questions do I ask my rheumatologist? Thanks

[Halfwayuphill]

Hi Awwy,

I have MCTD although there is a debate amongst rheumatologist to the title and mine prefers to call it Rnp positive undifferentiated connective tissue disease (UCTD). It varies a lot between patients and usually has features of Lupus, Scleroderma and possibly other autoimmune conditions. Mine presented with Raynauds and digestive problems. Fatigue and weight loss too. It took 5years for me to find out what it is although it did stableise to a degree on its own. I presume you’ve seen a rheumatologist specialising in lupus/scleroderma? I have been on hydroxychloroquine for some years and it helps with pain amongst other symptoms but takes a while for you to feel the benefit. I’m also on PPI for reflux and other tablets for Raynauds. I’m 69 now and have brought up my children and lead a good family life during this although I have to make adjustments. It’s been under control for some years but it’s likely I now have limited Scleroderma. If you look up UCTD/MCTD you will see many stay mild, some recover and in a minority of cases gets more serious. Are you in the UK?

[Awwy in reply to Halfwayuphill]

Hi. Thank you so much for your response. I started with this 2 years ago. I have raynaurds too. I've had that since I was 16. Yes im in the UK. I am also having stomach problems especially swallowing but didn't know there was a link. Im due for a camera investigation at some point. I asked the rhumotolgist and she said she didnt think it was linked to MCTD but my endometriosis. 🤷🏽‍♀️ What is PPI? I have hashimoto's too. Everytime I go to the GP they pick up on something else in my bloods. Feeling fed up at moment.

[Halfwayuphill in reply to Awwy]

Im sorry to hear you are feeling fed up. It’s always difficult when they don’t seem to know exactly what is wrong. You definitely do have a disease though with MCTD but all this controversy about titles doesn’t help. Im sure you will get there in the end though. Who is your rheumatologist? I go to the Royal Free.

A ppi is a proton pump inhibitor. Nearly everyone is on them with Systemic Sclerosis (Scleroderma) and some with Lupus. There are different ones (I’m on Esomeprazole) but they all reduce the acid production in your stomach as reflux is enhanced it escapes into your oesophagus. I’ve seen the symptoms of MCTD/UCTD on line and they all don’t mention the swallowing and muscle problems in your gut but I have met a few people with our condition and they all have it in my experience. I had tests for reflux and a muscle swallowing test years ago. They put a wire up your nose and down to your stomach and measure the muscles which sounds like the test you are waiting for . Mine measured dis functional as in Scleroderma for years. I also had a barium swallow and have significant reflux.

Do hope you have the tests soon and you get some answers. Might be worth asking what antibodies you have.

[Awwy in reply to Halfwayuphill]

Thank you I will do I've had barium swallow which showed incordinated movement. So I think you are right about the the test im waiting for. The gastro specialist is doing that one. Happy to know that this is part of MCTD and nothing extra. They gave me omperazole but that made me feel sick and bloated. Im based in Manchester under Dr Das. She seems to know her stuff. I just don't think I've had time to sit and talk properly seems to be rushed all the time. So next face to face im going to get her to explain my results so I understand better.

[Lizard28]

hi Awwy, after many many years of going to my Rheumy, she diagnosed me with MCTD, I used to think it was another cop out like “it’s just a virus” but it is an actual diagnosis. My bloods never showed anything positive. I was put on hydroxy like you and have been on it for around 7 years now. My symptoms are all very different but the main one that shows up is very high inflammation when I’m in a flare. The worst one was in my head, I was treated for GCA and on steroids for a year. My joints are painful, the fatigue I have is awful, I can sleep most of the day but recently I have been diagnosed with lupus by my dermatologist. She thinks the dots are finally starting to join up. It seems to be an overlap of quite a few auto immune illnesses. I have Reynolds and possibly Sjögrens but never had the lip biopsy. Every doctor apart from my Rheumy has told me I’ve prob got that. My Rheumy is a stickler for bloods, if it doesn’t show up, I don’t have it. I’ve got lymphoma which could be related to my auto immune issues, who knows. It’s difficult to know what to suggest to ask your Rheumy, if your pain is getting worse, ask for help. Because of the lupus I’ve been seeing mine every 6 months face to face even during covid because I was in agony with tenosynovitis in my hand. Best wishes, I hope you get some help and answers soon.

[Awwy in reply to Lizard28]

Thank you so much for your response. I've had scans on my hands and feet joints. Not sure what they found but rheumatologist is seeing me every 4 months at the moment. Sometimes I feel like my ankles give way abd they are weak. My ANA were positive dont know numbers. Glad im not going insane and found this forum. Feel reassured by you. Thank you so much.

[Lizard28 in reply to Awwy]

you are very welcome, this is a great forum to be on, everyone is very supportive. Hope you get results and help soon.

[Krock1]

I was lucky to be diagnosed early in the progression of my MCTD. I remarked to my wife’s rheumatologist that I was feeling fatigued and having recurring general malais. The rheumatologist tested me that day and found positive markers. That was 6 years ago. Prior to the MCTD diagnosis I have episodic respiratory flairs that led to pneumonia and a subsequent diagnosis of GERD. I am pretty sure both GERD and MCTD are related.

I have been on hydroxychloroquine for the past 6 years. The initial dose was 400 mg but Ipulled back to 200 as maintenance until about 2 years ago. Two years ago my tendons in my hips started to flair after a sudden jolt while laying down pulling weeds. The tendonitis has since migrated to my shoulders, then ankles, and most recently my hands. I have also started developing skin rashes from sun exposure.

When faced with flairs in the tendons I have used cbd balm and it has toned down the pain. I sometimes need prednisone dose packs to try and get in front of the pain.

[Awwy in reply to Krock1]

Thank you for your response. Looks like medication is long term for years not months that I was hoping.

[Tanitatani in reply to Awwy]

Yes the meds are for life. I also take mycofenolaye which is good for lung involvement apart from other...check your lung function it is often implicated in mctd.

[Awwy in reply to Tanitatani]

Hi Tanitatani,Thank you. What are lung symptoms to look for please? Will the rhumotolgist not automatically check that?

[Tanitatani in reply to Awwy]

Shortness of breath maybe. Mine didn't order before I complained and I learned I have diminish lung function. Luckily it didn't get worse. Also I just saw what I wrote before .. I started taking Saphnelo and I'm having really good results. Not sure if it is approved where you live, it is a new drug. So if your cocktail of drugs doesn't work you can try something different or new as there is always something new coming in.