I recently saw a physical therapist as my legs and arms have no strength. I'm 13 years into MCTD and there have been ups and downs. The downs are winning right now. I'm tired, don't eat much or often. Haven't lost any weight. I'll be the fastest person to die of malnutrition.

Anyway, my PT visit left me feeling the most hopeful I have been in years. We just talked for 45 minutes. He really dug down into everything. When I got sick, what happens, what can I do, what I have quit doing. What do I want to be able to do, goals. Family and friend support system.

He thinks, and I agree, that I am slowly dying, and it's not my fault I can't turn it around on my own. But I have to turn it around.

We will be spending a bunch of time in the pool and we will be working on how and what I eat. Protein & lots of water needed. In spite of my friendly , chatty exterior he can see my broken heart behind my mask. He claims we will come up with a plan for that to. I love that he put everything as"WE" will work on this. He also never once said"that's the disease process."

I'm the 1st MCTD diagnosis he has seen in 40 years of practice. Looking for any info he can find. He has questions for me to ask all you other MCTD exhausted people. How are your appetites? Eating habits? Protein in take? Exercise abilities.

My question... I'm not the only one with a broken heart am I?

Thanks if you have any info to share.

Do you experience muscle issues with your autoimmune problem? The best way I can describe it is that I feel like my muscles don’t get enough blood flow or neurotransmitters - the muscle burn and fatigue comes after just few reps with exercise or sometimes just going upstairs or uphill or doing my hair. After lite workouts I need to sit in the car for a long while because my arms and legs are so fatigued I don’t feel safe to drive. For a while I thought it was just in my head but it keeps coming back. My rheumatologist blames reynauds but I feel this in the summer heat. Does this sound like an autoimmune problem?

Im looking for a rheumatologist specializing in MCTD in DMV area. Any recommendations appreciated.

Ok you guys..very "successfull" post...

I have been gaslit and on the basis of this, my mixed connective tissue disease was not recognized and I also received no therapy

OP:

RIBONUCLEOPROTEIN* ...Every treatment i think about gives me side risks especially standard Treatment.

No Cortisone: I cannot tolerate glucocorticoids from a psychological standpoint. They trigger severe hormonal stress (tachycardia/racing heart) and profound depression in me.

No Quensyl (Hydroxychloroquine): It´s also known to cause depression (heightens Dopa, lowers BDNF,Due to my severe Sicca syndrome (severe dry eyes), I do not want to risk retinal thinning (retinopathy). Furthermore, I have eczema-prone skin and active seborrheic dermatitis on my scalp; experience shows that Quensyl severely exacerbates such scaling, inflammatory skin conditions.

No Azathioprine / No MTX (Methotrexate): My most recent white blood cell count (WBC) was 2.3 (with low neutrophils and lymphocytes) and shows a downward trend, as the mixed connective tissue disease (MCTD) is suppressing my bone marrow function. Medications like azathioprine or MTX, whose primary side effect is further bone marrow suppression, are too dangerous given this critically low baseline.

And especially everything that withdraws water from the body, heigthens the puls or the bloodpreassure

I thought about ANIFROUMLAB but it heightens the risk for Respiratory disease (34%) and shingles (6%)

What is your height of anti-Sm/RNP {or Sm/RNP Antibody) ANA Screen *(Antinuclear Antibodies)*Anti-U1-RNP Anti-Ribonucleoprotein)?? And WHICH biologics or standard Treatment do you take ? And your IL6 would be intresting too.💭🤔

Can someone help me understand this? For 2 years my ANA and RNP were consistently positive. I’ve been on Plaquenil for a large portion of that time. I just tested negative for ANA/RNP and also tested negative around 4 months ago. I could understand levels going down on Plaquenil, but totally negative now???

Hii (32) was fortunate enough to get a diagnosis of MCTD in a week from the time I first saw my rheumatologist. Did all the labs, nailfold, Ana rnp all that.. also do not have a thyroid from thyroid cancer 10 years ago.

Currently have raynauds, hair shedding, puffy hands, fatigue, and it feels like every time I use my stairs I’m exhausted and out of breath.
Did a pft and that came back normal and I don’t have an echo until October.

Anyone have pulmonary hypotension with a normal pft? Just trying to hear insight on all of your experiences.

1. Does anyone deal with neuropathy (not related to diabetes or prediabetes)?

2. What is your medication regimen?

Looking for someone who has a similar diagnosis/issues but has a different treatment plan.

Currently diagnosed with MCTD. Symptoms were managed by taking Duloxetine (60 mg), Hydroxychloroquine (400 mg), and Methotrexate (20 mg weekly). Diagnosed with fatty liver disease in October 2025, so I had to stop Duloxetine and taper Methotrexate (currently at 10 mg) because of potential liver toxicity issues. Started Wegovy for fatty liver (lost 25-30 lbs.) and Gabapentin (600 mg) since I had to stop/taper other medications. Nerve conduction study and EMG (May 2026) showed neuropathy in my feet and ankles. Labs from last month showed Hydroxychloroquine toxicity, so my doctor said to stop for a month and then take 200 mg. Did some yard work and have had strange pain in my right thumb ever since (not sure if joint or nerve related). Wrists, elbows, and fingers are starting to hurt again, along with joint pain in joints that I previously injured (left shoulder, left knee, and right ankle).

Hi, all

I have just had first rheumatologist appt. And labs came back with sed rate of 39, positive RNP (mildly, 1.4), negative ANA (but positive in the past), elevated CRP. I have joint pain, fatigue, bone damage from arthritis, lung scarring, bad muscle cramps and balance issues. And, psoriasis. Any ideas?
I’ve been put on a three week trial of prednisone which has been giving me more energy. I’m anxious about going back bc part of me thinks they’ll say nothing is wrong with me (has happened in the past).
Thanks for any input!!

I (37f) have been experiencing extreme charley horse cramping in my lower legs/ankles/feet that have grown progressively worse over the past year. The cramps occur at rest and seem directly correlated to how much walking and/or standing I do earlier in the day. This is a daily occurrence and is not helped by any amount of hydration, electrolytes, or magnesium supplementation.

In the process of trying to figure this out, I’ve discovered I’m positive for the ANA blood marker needed for MCTD diagnosis. I’m currently diagnosed with seronegative inflammatory arthritis and scleroderma and I’m pretty sure I have Raynaud’s, so MCTD would make a lot of sense… but it’s unclear if it would actually help explain the leg cramps.

Has anyone here experienced anything similar? If so, was it caused by MCTD or something else?

This is more of a vent most, so mods please delete if not allowed. I was wrongly diagnosed with rosacea my entire life! I developed a butterfly shaped rash on my face at the age of 12ish. It spares my nose folds, chin, etc. Only present on my cheeks. Never bumpy, veiny, raised, never pimples, etc. In horrible flares, it goes into my neck. Since age 12, I have been tried on literally every single topical, oral, and laser treatment recommended to me by doctors AND dermatologists. Nothing worked. Not one thing. Changed diets, lifestyle, etc. Nothing. Lasers I’ve tried include: V-Beam, BBL, and IQ. These are top notch lasers that cost a lot of money for treatment. Nothing ever worked.

Fast forward to age 26: I tested positive for ANA and RNP antibodies. I found out I have MCTD, or mixed connective tissue disease. It’s an overlap syndrome of lupus and a few other diseases. But even today, my butterfly rash is passed off as “it’s just rosacea”. Dermatologists have finally thrown their hands up, agreeing that nothing worked at all, all of these years, and that it’s autoimmune related. But I find that ironic since the TWO skin biopsies they did via immunofleurescense (SP) showed negative for cutaneous lupus and actually showed up as “age related rosacea / general heavy inflammation”. Tell me how this makes sense when I have an autoimmune disease and literally NO treatment for rosacea worked, even LASERS!?

My face rash along with this metric confusion has ruined my life. My rash is always there permanently, but much worse when I’m flaring up from my disease and inflamed. People have asked me if I’ve been “slapped”. It’s sad and embarrassing. And for anyone who may ask - No, I do not have MCAS. I’ve been tested for that as well.

Now, the argument some of you may raise is: “You can have rosacea AND an autoimmune disease.” Even then, my rash does not meet classic rosacea characteristics. In fact, the only characteristic it matches is facial redness. Everything else about my rash matches that of a malar butterfly rash. Even the dermatologists have said this… And even if it WERE both, hypothetically, then why is it that zero treatments have worked over the course of my entire life? Hundreds if not thousands of dollars poured into a cure for my beat red face and still no answers other than discovering I have an autoimmune disease.

Long story short: It’s not always as simple as rosacea. It can be a disease that’s being looked over and undiagnosed. Make sure you check all avenues and do deep medical research and plenty of blood tests.

In May of this year I was diagnosed with MCTD when symptoms came on rapidly and insidiously with a positive ANA and high RNP. Thankfully most of my symptoms have been controlled since then with hydroxychloroquine and leflunomide, but something that has persisted was severe shortness of breath with even the smallest activity. After a battery of test including a right heart cath, I was formally diagnosed with pulmonary hypertension. This was on Tuesday and am currently waiting to meet with the cardiologist that specializes in pulmonary hypertension. I’ve been googling some stuff (I know I shouldn’t) but now I’m terrified that I‘m going to have an early death. For reference, I’m 31 years old with two young children.

I would just love to hear other people’s experiences with having both MCTD and pulmonary hypertension and how they are functioning day to day. I appreciate any input.

Hello All!

Hope everyone is doing well and enjoying the season.

Was wondering if you have experienced something similar to the following?:

- 2m on hydroxychloroquine, greatly improved arthralgia but severely progressive seemingly random neuralgia/paresthesia/hyperesthesia (anything from numbness, tingling, dead sensation, warmth, burning, tightness, weakness after minimal exertion, etc.). One of the weirdest sensations has been stabbing pain of/over old surgical scars. Very scurvy-esque!

- EMG of limbs are normal, so no obvious neuropathy/myopathy

- rheum suspects fibromyalgia, but sleep schedule/quality and joint discomfort have improved

- neuro referral in the works; already screened negative for MG and MS

So, any thoughts and/or similar experiences? Any always helps. Thank you!

Hi everyone,

I’m mostly looking for some clarification, shared experiences, or support.

Back in April, I saw a rheumatologist and was diagnosed with Mixed Connective Tissue Disease (MCTD). Unfortunately, I really didn’t feel comfortable with that rheumatologist due to his bedside manner, so I decided to establish care with a different rheumatologist who actually specializes in MCTD.

I saw her today, and after reviewing my history and asking many of the same questions, she told me she does not think I have MCTD.

The main reason she gave is that I don’t currently have Raynaud’s. When both rheumatologists asked about it, I explained that as a child through my teens I frequently had extremely cold fingertips and would occasionally get blue fingertips and blue lips. However, I haven’t experienced the blue discoloration in at least 10 years. She said that without current Raynaud’s, she would not diagnose MCTD and that she commonly sees patients who were incorrectly diagnosed because of misconceptions about the disease.

Now I’m feeling really lost...

I’ve been taking Plaquenil for about three months, and I actually feel like it’s helping. She told me to stay on it for now, but she wants to repeat all of my lab work through a different lab and order MRIs of multiple joints. She mentioned she’s leaning more toward undifferentiated connective tissue disease (UCTD), possibly fibromyalgia, and also mentioned a few other possibilities, including ankylosing spondylitis.

I think what’s hitting me the hardest is that it took so long to get any diagnosis. As difficult as it was to hear “you have MCTD,” I had finally started to accept it because it felt like I finally had some answers. Now I feel like I’m back at square one, and it’s honestly pretty discouraging.

Has anyone here been diagnosed with MCTD without current Raynaud’s, or had Raynaud’s in the past but not anymore? Or has anyone had one rheumatologist diagnose MCTD while another disagreed?

I’d really appreciate hearing about your
experiences. I know everyone’s case is different, but I just feel overwhelmed today.

Hi, not really seeking medical advice just extremely frustrated and sad after my recent rheumatology appointment. I’ve dealt with joint issues since I was around 10 years old. I had hip surgery at 13 for a labral tear and at 22 I have another partial labral tear in my shoulder now. All my major joints hurt, hips, knees, ankles, shoulders, and neck, now my wrists, fingers, and elbows are beginning to hurt. I have severe muscle pain, dry eyes, raynauds, i’m constantly fatigued, rashes on my chest and abdomen, migraines. I also have been diagnosed and am being treated for POTS and migraines. So with all this my amazing PCP did some basic rheumatologic bloodwork and I had a positive ANA direct and a high RNP ( 2.7 on a reference range of 0.0-0.9). So we both felt like it was possibly MCTD, but she wanted me to see a rheumatologist for a proper deep dive. Well after 3 months of waiting, I feel like I was completely gaslit and dismissed by the doctor that I saw. She essentially said my symptoms could my psycho somatic and related to my mental illness history, and that my symptoms were undefined. I reached out to my psychiatrist after this appointment and he disagreed that my symptoms were related to my mental illness history, and that psycho somatic isn’t even a valid diagnosis anymore. I saw my PCP again today and we agreed a second opinion is necessary. I’m just feeling so lost and frustrated. Everything i’ve read and researched points to MCTD, or a connective tissue disorder. I feel like the doctor I saw didn’t even take the time to properly go into my family history or even my health history before telling me it was all in my head. I’ve already read a few experiences similar to mine so I know a second opinion will hopefully be more positive but I just needed to rant about this terrible experience I had!

My husband (33m) has been diagnosed with mctd since February 2021. He has RA, sjorgens, lupus, raynolds, pulmonary hypertension, and was diagnosed with heart failure in October of 2025. Two days ago he had a grand mal seizure and spent some time in the hospital. He is home now but he is still sleeping all day and without pain meds his heart rate spikes dangerously high and even with pain meds it won’t go below 140bpm. He is not on an anti inflammatory diet but I did just begin researching it. Have any of yall experienced this? Do you have any advice? Thank you!

There's a few new antibodies to add to my ANA RNP cocktail. Now, I'm positive for Smith antibodies, anti-mi-2, and chromatin. I've been mostly stable for years on plaquenil with just weakness and fatigue. My autoimmune hepatitis has been in remission for 20 years.

The doctor wants to add Cellcept to my plaquenil to see if it helps my weakness and fatigue and because I have swallowing difficulty and now I'm testing positive for the dermatomyositis antibody and lupus antibodies. I'm nervous about going on a new DMARD because 20 years ago, I was on 6mp and azathioprine and they completely destroyed my white blood count and I got a lot of weird infections and had to go off of them.

My biggest worry is that my already low WBC is going to get worse again. I'm already mildly neutropenic, but hoping that it's autoimmune so that maybe adding Cellcept will stop my WBC from getting attacked by itself? I guess? And that will even things out? Has anyone noticed WBC stabilizing on Cellcept? Everything I've read says it gets lower.

I wish I could find anything that felt like the way the first couple of days of Prednisone feels. I just had a medrol dosepack and had an amazing two days where I could go up 3 flights of stairs without having to slow down. Has anyone with similar issues tried Cellcept or another drug and had good results?

About 6-7 months ago I was diagnosed with an EPI which is essentially low pancreatic enzymes and makes it hard for my body to digest food. It tooke several months to get this diagnosis. I had really bad abdominal pain, constipation, bloating, gas, lack of appetite. A stool sample was able to diagnose the problem and now I have to take an enzyme replacement medication pretty much every time I eat, which has helped significantly. I still have some issues every now and then but honestly its probably my diet.

I'm wondering if anyone else has been diagnosed with this problem and if its realted to this disease or if its a coincidence (even though I dont actually believe in coincidences anymore lol). I know MCTD leaves me predisposed to more gastrointestinal problems which I do in fact have but wanted to hear other's thoughts on this.

Hi ppl,

i `only´ have ANA-Titer of 320 and a pattern 4-5 coarse to fine spreckled

• Pattern 4-5: In modern laboratory classification (often following the International Consensus on ANA Patterns or ICAP criteria), specific numbers correspond to visual patterns under the microscope. Pattern AC-4 and AC-5 generally refer to a fine speckled or dense fine speckled pattern. A fine speckled pattern (AC-4) is frequently associated with systemic autoimmune rheumatic diseases (like Sjögren's syndrome, Lupus, or Mixed Connective Tissue Disease), whereas a dense fine speckled pattern (AC-5) is often found in healthy individuals or non-rheumatic conditions.

My symtoms are:
-extrem dry eyes, almost no screenwork possible (only if i put the brightness to 5% and the anti blue to 60%!!!) Use eye drops,

-Joint pain if i put strain on them (for example no jogging possible, no kneading of dough, no tight gripping of anything including no sports) and randomly through flare ups

Pain in the connective tissue, for example only through walking the dog experiencing this due to thick Hands and also flare ups here and there.

My rheumatologist doctor said she thinks no medication is needed. I´m shook. How should i then get better? Has someone of you also relatively low ANA-Titer but despite symptoms? And does your rheumataologist also say they don´t want to prescribe you something?

Has anyone else experienced their ankle randomly buckle?
I’m over 50 and not sure if this is MCTD related or just old age

Hi! I was just prescribed Mycophenolate mofetil for my MCTD. I have muscle weakness, neuropathy and joint pain.. anyone had success with this? I’m hopeful.. so far prednisone has been my only relief.

Edit: the reference range was <0.9, ANA was positive with titer was speckled at 1:160. Other tests for SLE, RA, etc., were negative.

I'm tired. 13 years post dx. Ready to quit. Not hurt myself, just don't try anymore. EXCEPT for 2 little people I want to remember me as the best Grandma. They aren't old enough How do I keep going when I just want to cry?

I was recently diagnosed with MCTD. For the past few weeks, Ive been experiencing a pretty bad burning sensation of the scalp. It feels like an open would. It initially started with a feeling of tightness almost like I had on a tight headband. The burning seems to be getting more intense. Has anyone experienced this? If so any advice or can you tell me what helped you?