Antisynthetase Syndrome: Anyone else?

Posted by nancykay1888 @nancykay1888, Feb 12, 2020

My husband was diagnosed with this autoimmune syndrome in 2017 after spending 4-1/2 months in the hospital (59 in ICU). Normally it affects women with one in 100,000 people. It has affected his pulmonary system, muscles, blood, skin and you never know when something will pop up. He has wonderful doctors who watch him very carefully. Has anyone else ever encountered this syndrome or heard of anyone with it?

Interested in more discussions like this? Go to the Autoimmune Diseases group.

@johnbishop

Hello @nancykay1888, Welcome to Mayo Clinic Connect. I did a search of Connect and was not able to find any discussions on Antisynthetase Syndrome. It must be difficult for you that your husband has such a rare disorder. It's great to hear that he has a good group of doctors who care for him. Have his doctors done any treatments or therapies that help his symptoms?

I was not aware of the Antisynthetase Syndrome and had to look it up. I found some good information describing the condition on the National Organization for Rare Disorders website — https://rarediseases.org/rare-diseases/antisynthetase-syndrome/

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Yes, his doctors are "miracle workers." They constantly monitor him and he has had all kinds of therapy. He was in a medical induced coma for over three weeks while the doctors worked with trying to diagnose what he did have. Dr. Jivan and Dr. Dama from Christ finally diagnosed him. After they brought him out of the coma (he was on a ventilator for more than three weeks and then they performed a trake (sorry about my spelling). He had to learn to do everything again and of course that took at least two years of therapy for different functions. There is so much I could tell you about those days but it's hard to put all the memories here.

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@hopeful33250

Hello @nancykay1888, I would also like to welcome you to Connect. I am sorry to hear about your husband's rare disorder. I read the link that @johnbishop provided in his post to you. This must have been very difficult for his doctors to diagnose.

If you are comfortable sharing more, what type of symptoms was your husband experiencing when he was in the hospital? I'm also wondering what type of specialist made this diagnosis.

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First off, I apologize for not receiving these emails earlier. I would love to share everything that I remember and how it started (problem started before we were aware). It is heretitary but with Don we have no idea where it came from. His father's background is not known. The specialist who made the diagnoses were both pneumonary doctors from India. One of the doctors had experienced or knew about the syndrome. We also had a doctor for infectious diseases, plus I believe two or three more. You can always call me and I can answer as many questions as possible. After Don's lungs were affected his muscles were affected a year later.

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@jamieray6812

Hello I am 27 years old and I was diagnosed with antisynthetase syndrome in nov. 2019 I have been searching all over for answer and other with conditions like me. It has affects my lungs muscles and joints. Your right this condition normally affects woman and usually older woman. I was also diagnosed with other conditions also with is that my doctor has told me has never been reported in combination with jo-1+ people and told me to report to Mayo Clinic’s which is what has brought me here… I am young and trying to find answers in any way that I can, I would be willing to share things about myself and any info I have received to possibly be of some help to your husband and anyone else reading this with this condition and I’d love input from anyone else l… it’s so hard to find answers.

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How have you been since being diagnosed? What kind of doctor diagnosed you?

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This is nancykay1888 I have a niece who is 57 and has just been diagnosed with Parkinson's. She is level 1 (there are 5), I would like information from others that have had this diagnoses. Parkinsons runs in my family, my aunt, my great aunt and my mother (she was in her 80s).

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A rheumatologist diagnosed me. I’m “better” since being on prednisone and mycopehnolate. But joint are still sore and have daily pain. Mostly in my hand, knees elbows, toes, and ankles. I got my send ct scan a year after my diagnosis and it didn’t show progression of lung disease which is good. I just wish I could do something for my hand swelling and pain.

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I’m sorry I meant to say I got my second ct scan

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@nancykay1888

This is nancykay1888 I have a niece who is 57 and has just been diagnosed with Parkinson's. She is level 1 (there are 5), I would like information from others that have had this diagnoses. Parkinsons runs in my family, my aunt, my great aunt and my mother (she was in her 80s).

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Hi Nancy,
You can connect with others talking about Parkinson's disease in this group:
– Parkinson's Disease https://connect.mayoclinic.org/group/parkinsons-disease/

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Hello,

I am 30 years old and was diagnosed with anti-synthetase syndrome when I was 25 in 2016 at Mayo Clinic. I have autoimmune problems on both sides of my family, although nobody in my immediate family, and no diseases this rare. Mine affected my lungs, muscles, joints, etc. My joints were what really bothered me at first before being diagnosed, but my muscle and joint involvement have improved since I started prednisone and immunosuppressants. My lungs have been the main issue that we've had to keep a close eye on. And as you said, @nancykay1888, random things just seem to always be popping up.

I was first taking azathioprine and prednisone, but the azathioprine basically shut down my bone marrow right away, and my body stopped making blood. I needed 4 blood transfusions and spent a couple weeks in the hospital. After spending a couple years on just relatively high-dose steroids, doctors finally added mycophenolate about a year ago, and I was slowly able to taper down to just 3mg of prednisone and was feeling pretty good, for the most part. Throughout the last five years, my lungs have continued to show inflammation on CT scans and pulmonary function tests show a mild decrease in lung function, but any flares were caught pretty early and have been mild until my last episode.

Last month, on June 1, 2021, I went to the ER in my hometown in ND due to not being able to breathe, and later that night I also started coughing up blood. Long story short, they spent a few days treating me for pneumonia, which I did not have, and I was eventually intubated and my hospital could not stabilize me. (My doctors here have little to no knowledge of anti-synthetase and it has been frustrating any time I need care in the ER/hospital here!) They eventually did a scope of my lungs and found that my lungs were almost completely filled with blood, which is when they finally figured it wasn't pneumonia, called my doctors at Mayo, and got me stabilized after following the direction of Mayo Clinic. (My mom had been asking them to contact Mayo for days while my condition worsened.) Mayo sent their jet to come get me and transfer me to their ICU in Rochester.

They woke me up a few days later and those "miracle workers" saved my life. I went from being intubated in a medically-induced coma, to being completely reliant on bi-pap oxygen masks, to being on a few liters of oxygen through a regular nasal cannula within about 10 days. I am still on the few liters of oxygen, but I have been able to heal at home for the last four weeks. Doctors are now trying to figure out if this was a rare occurrence due to my interstitial lung disease/anti-synthetase syndrome, or if a whole separate autoimmune disease (ANCA vasculitis) is to blame for the hemorrhaging in my lungs. We are also not sure yet whether this last episode made any scarring/fibrosis in my lungs or caused any permanent damage. I head back to Mayo in a little over a week for more out-patient appointments and tests, and hopefully answers.

It definitely feels like this disease is constantly throwing up new obstacles and it has been scary, especially with lung disease during Covid. Sorry this was a long post. I could go on about how frustrating it has been at times, but also how amazing the doctors and nurses at Mayo have been throughout this whole journey. I hope the others who have posted about yourself or loved ones are doing well today, along with anyone else who may just be reading these posts. It helps to read about others who are also fighting this rare, strange disease.

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@allie7764

Hello,

I am 30 years old and was diagnosed with anti-synthetase syndrome when I was 25 in 2016 at Mayo Clinic. I have autoimmune problems on both sides of my family, although nobody in my immediate family, and no diseases this rare. Mine affected my lungs, muscles, joints, etc. My joints were what really bothered me at first before being diagnosed, but my muscle and joint involvement have improved since I started prednisone and immunosuppressants. My lungs have been the main issue that we've had to keep a close eye on. And as you said, @nancykay1888, random things just seem to always be popping up.

I was first taking azathioprine and prednisone, but the azathioprine basically shut down my bone marrow right away, and my body stopped making blood. I needed 4 blood transfusions and spent a couple weeks in the hospital. After spending a couple years on just relatively high-dose steroids, doctors finally added mycophenolate about a year ago, and I was slowly able to taper down to just 3mg of prednisone and was feeling pretty good, for the most part. Throughout the last five years, my lungs have continued to show inflammation on CT scans and pulmonary function tests show a mild decrease in lung function, but any flares were caught pretty early and have been mild until my last episode.

Last month, on June 1, 2021, I went to the ER in my hometown in ND due to not being able to breathe, and later that night I also started coughing up blood. Long story short, they spent a few days treating me for pneumonia, which I did not have, and I was eventually intubated and my hospital could not stabilize me. (My doctors here have little to no knowledge of anti-synthetase and it has been frustrating any time I need care in the ER/hospital here!) They eventually did a scope of my lungs and found that my lungs were almost completely filled with blood, which is when they finally figured it wasn't pneumonia, called my doctors at Mayo, and got me stabilized after following the direction of Mayo Clinic. (My mom had been asking them to contact Mayo for days while my condition worsened.) Mayo sent their jet to come get me and transfer me to their ICU in Rochester.

They woke me up a few days later and those "miracle workers" saved my life. I went from being intubated in a medically-induced coma, to being completely reliant on bi-pap oxygen masks, to being on a few liters of oxygen through a regular nasal cannula within about 10 days. I am still on the few liters of oxygen, but I have been able to heal at home for the last four weeks. Doctors are now trying to figure out if this was a rare occurrence due to my interstitial lung disease/anti-synthetase syndrome, or if a whole separate autoimmune disease (ANCA vasculitis) is to blame for the hemorrhaging in my lungs. We are also not sure yet whether this last episode made any scarring/fibrosis in my lungs or caused any permanent damage. I head back to Mayo in a little over a week for more out-patient appointments and tests, and hopefully answers.

It definitely feels like this disease is constantly throwing up new obstacles and it has been scary, especially with lung disease during Covid. Sorry this was a long post. I could go on about how frustrating it has been at times, but also how amazing the doctors and nurses at Mayo have been throughout this whole journey. I hope the others who have posted about yourself or loved ones are doing well today, along with anyone else who may just be reading these posts. It helps to read about others who are also fighting this rare, strange disease.

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Hello @allie7764, Welcome to Connect and thank you for sharing the details of your journey with this rare disease. Like you mentioned, it really does help others to read these posts and know that they are not alone when battling these types of conditions. I know it can be scary when there is so much that is not known. You mentioned that you are heading back to Mayo in a week or so for more appointments, tests and hopefully answers.

There is a site with some tools to help you plan your conversation with your doctors and care team that seems like it might be helpful for you and others – https://patientrevolution.org/visit-tools

Do you mind sharing what questions you would like to get answered?

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@johnbishop

Hello @allie7764, Welcome to Connect and thank you for sharing the details of your journey with this rare disease. Like you mentioned, it really does help others to read these posts and know that they are not alone when battling these types of conditions. I know it can be scary when there is so much that is not known. You mentioned that you are heading back to Mayo in a week or so for more appointments, tests and hopefully answers.

There is a site with some tools to help you plan your conversation with your doctors and care team that seems like it might be helpful for you and others – https://patientrevolution.org/visit-tools

Do you mind sharing what questions you would like to get answered?

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Hi @johnbishop, thank you for sending the link for the site with information about how to prepare for appointments with my care team. Most of my questions that I'm hoping to have answered revolve around my potential new diagnosis of ANCA vasculitis, as I know very little about this disease, its prognosis, and what it may mean in relation to my anti-synthetase diagnosis. I do know that the vasculitis can affect kidneys and lungs, and I am wondering how this might affect my lung function in the future, or if it may have already caused irreversible damage when the hemorrhaging occurred last month. The process of diagnosing the vasculitis has been ambiguous and unclear so far, although I had a kidney biopsy done in my home town last month and will be curious about how the Mayo doctors interpret those results. Thanks again for reaching out and sharing the link. I will definitely use that resource next week when meeting with my doctors at Mayo.

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