Antisynthetase Syndrome
What is Antisynthetase Syndrome?
Antisynthetase syndrome is a rare, chronic, inflammatory autoimmune disorder that affects the muscles and other parts of the body. An autoimmune disorder is one where the body’s own immune system mistakenly attacks healthy tissue. Antisynthetase syndrome is characterized by the presence of autoantibodies that bind to enzymes (specialized proteins) called aminoacyl-transfer RNA synthetases. The body uses aminoacyl-transfer RNA synthetases in the production of other proteins, which are vital to the health and function of the body.Antisynthetase Syndrome is a rare, chronic, autoimmune disorder.
Synonyms
- Antisynthetase syndrome
- Anti-Jo1 syndrome
Antisynthetase syndrome is a rare, chronic, inflammatory autoimmune disorder that affects the muscles and other parts of the body. An autoimmune disorder is one where the body’s own immune system mistakenly attacks healthy tissue. Antisynthetase syndrome is characterized by the presence of autoantibodies that bind to enzymes (specialized proteins) called aminoacyl-transfer RNA synthetases. The body uses aminoacyl-transfer RNA synthetases in the production of other proteins, which are vital to the health and function of the body.Antisynthetase Syndrome is a rare, chronic, autoimmune disorder.
Rareshare would like to acknowledge Dr. Frederick Miller, Deputy Chief of the Clinical Research Branch and Chief of the Environmental Autoimmunity Group at the National Institute of Environmental Health Sciences at the NIH Clinical Center for reviewing this content.
The disorder affects about 1-9 of every 100,000 people in the general population and occurs twice as often in women than men.
| Name | Abbreviation |
|---|---|
| Antisynthetase syndrome | AS syndrome |
| Anti-Jo1 syndrome | Anti-Jo1 syndrome |
The causes of AS syndrome are unknown, but it is considered an autoimmune disorder. This means that the immune system, normally in charge of defending the body against external threats, mistakenly attacks healthy tissues. In AS syndrome, the immune system produces autoantibodies to enzymes known as aminoacyl-tRNA synthetases (enzymes involved in the production of other proteins). However, if the presence of these autoantibodies causes antisynthetase syndrome is not completely understood.
What triggers the production of anti-aminoacyl-tRNA synthetase autoantibodies is also not known. It is considered to be a combination of genetic and environmental risk factors. Viral infections and exposure to dust, certain gases, smoking and the use of certain medications are possible environmental risk factors. In Caucasians, the presence of the HLA-8.1 haplotype is a genetic predisposition for AS syndrome. The HLA genes serve as the blueprint for producing proteins that are in charge of indicating to the immune system what is foreign to the body and hence has to be attacked.
The anti-Jo-1 autoantibody is the most common autoantibody associated with this disorder accounting for about 70% of patients.
There are several symptoms that affect people with antisynthetase syndrome. The constellation of these symptoms along with the characteristic autoantibody defines AS syndrome. Individuals with this disorder may not have all of the symptoms associated with the disorder.
- Polyarthritis: polyarthritis is having arthritis in more than one joint. The arthritis is symmetrical in nature. It affects both the left and the right side of the body.
- Myositis – poly or dermato: polymyositis is a persistent inflammatory muscle disease that causes weakness of the skeletal muscles, which control movement. Medically, polymyositis is classified as a chronic inflammatory myopathy. Dermatomyosistis is a similar condition accompanied by skin rashes.
- Raynaud disease in hands and feet: usually, the fingers and toes turn white due to constriction of the blood vessels when the hands and feet are exposed to cold. The hands and feet may be numb, painful or cold to the touch.
- Mechanic´s hands: mechanic´s hands is the presence of cracks and fisures in the fingers and thumbs on the palm side of the hands, sometimes accompanied by a darkening of the skin due to increased pigmentation.
- Interstitial lung disease: interstitial lung disease (ILD), also known as diffuse parenchymal lung disease (DPLD), refers to a group of lung diseases affecting the interstitium (the tissue and space around the air sacs of the lungs). In ILD the interstitium thickens due to an inflammation, scarring of the tissue or the presence of liquid (edema) what interferes with the normal pulmonary function.
The diagnosis of antisynthetase syndrome is confirmed when there are antisynthetase autoantibodies present together with clinical features
The clinical features include the presence of interstitial lung disease (once other conditions have been ruled out and not explained by enviromental, occupational or medication exposure), arthritis (inflammation of the joints), Raynaud disease (some areas of the body, specially the toes and fingers, feel numb and cold in response to cold temperatures) and mechanic’s hands (the presence of cracks and fisures in the fingers and thumbs on the palm side of the hands). Polymyositis (a chronic inflammation of the muscles) or dermatomyositis (a chronic inflammation of the muscles accompanied by skin rash) are often present as well.
There are several tests that can be done to confirm the diagnosis and evaluate the severity of the symptoms. These tests would vary depending on each person but can include laboratory tests that look for the presence of antisynthetase autoantibodies (there have been several different autoantibodies identified associated with the disorder).
Additional tests include blood tests to determine the levels of muscle enzymes like creatine kinase and aldolase (the presence of these enzymes in the blood is a sign of muscle damage, but it is not specific to antisynthetase syndrome), imaging of the lungs and/or muscles, muscle and/or lung biopsy, pulmonary function testing and evaluation of swallowing difficulties, that could be done depending on the signs and symptoms in each person.
Oral corticosteroids like prednisone are often the initial form of therapy and may be given for many years. Sometimes, doctors may recommend treatment with immunosuppressants, which are drugs that suppress the activity of the immune system. Immunosuppressants that have been used include Imuran, Cellcept, Myfortec, and Cytoxan. Good results have been achieved for some people using immunosuppressants.
Rituxan may be used in individuals who do not respond to other treatments (refractory cases), especially for persistent lung disease.
Physical therapy and exercise, which can improve muscle strength, reduce muscle wasting, and prevent joint contractures, is of benefit for most individuals.
Every individual is unique and how a disease affects them and how they respond to treatment will vary as well, making it difficult to make broad statements about prognosis. Generally, if there is only muscle involvement, the prognosis is favorable. The syndrome can often be effectively controlled with immunosuppressants and steroids. If there is also progressive interstitial lung disease, the outcome is not as favorable. However, stabilization or improvement of the disease can sometimes be achieved with treatment.
There is no cure for antisynthetase syndrome, as the disease is chronic and usually requires life-long treatment, but in many cases people can achieve remission where there is little evidence of active inflammation.
American Autoimmune & Related Diseases Association (www.aarda.org)
The Myositis association (www.myositis.org)
Pappu R, Seetharaman M. Polymyositis. Emedicine website. Available at: http://emedicine.medscape.com/article/335925. Updated: November 22, 2016.
Antisynthetase syndrome. Genetics and Rare Disease Information Center website. Available at:http://rarediseases.info.nih.gov/diseases/735/antisynthetase-syndrome. Updated: March 10, 2017
Cavagna L, Nuno L, Scire CA, et al. Clinical Spectrum Time Course in Anti Jo-1 Positive Antisynthetase Syndrome. Medicine (Baltimore). 2015; 94(32):e1144.
Benveniste O. Antisynthetase syndrome. OrphaNet website. Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=81. Updated: May 2014.
Lefèvre G, Meyer A, Launay D, et al. Seronegative polyarthritis revealing antisynthetase syndrome: a multicentre study of 40 patients. Rheumatology (Oxford). 2015;54(5):927-32.
Mirrakhimov AE. Antisynthetase syndrome: a review of etiopathogenesis, diagnosis and management. Curr Med Chem. 2015;22(16):1963-75.
Last updated 16 May 2021, 09:49 PM
16 May 2021, 09:49 PM
Hi B and Jenny, I was diagnosed with Antisynthetase Syndrome in spring 2021 following a period of one month in hospital. A month or so before being abmitted I had a continuous cough and I lost my appetite and became very weak. I visited doctors during the start of the Civic lockdown and they examined me and noted I had scarring on my lower lungs on both sides. I had never heard of scarring on lungs before. I was taking some kind of antibiotic for persistent cough but my condition had not improved. Over the next few weeks I just became Berglund and very unwell with severe cough. Eventually I had to call an ambulance and due to my oxygen level being very low I was admitted to hospital where I remained for one month. During the stay in hospital I began to use oxygen and ultimately became completely dependant upon oxygen from cylinders. Iost a lot of strength in my legs and hands. I had many blood tests and scans and following a small dose of anti cancer treatment Rituximab and one other as well as 60mg Prednisolone together with other tablets I started to feel better. I needed physiotherapy to stand and walk again. I was also able to enjoy food again. I left hospital and began a new way of living.Soon after leaving hospital I was on Mycophenolate and the dose of the Prednisolone was able to be lowered very gradually over six months to 10mg. Before I fell ill I was working nights supporting adults with mental health difficulties and for a few hours during each day I was building a stone wall so I was very active. I have been aware over the last ten to twenty years that my body could be adversely affected by physical and mental stress but I didn't think I was any different. My new reality is that I have to watch my stress levels and be careful not to over stress my body. I have to pace my self and appreciate what I can achieve. I have been advised by my consultant that I am likely to remain on my present medication for four to five years. Daniel
13 Feb 2018, 03:43 PM
Hi
I am a husband to a beautiful wife called Jenny. She has recently been diagnosed with ASS, though we are still waiting on the exact, specifics to precisely identify the 'type' and then treat with immunosuppressants.
Currently, Jenny is in hospital (her second visit over the past month). She is unable to walk without a frame and then limited to a few metres. She is very breathless too. The ASS has effected lungs and muscles along with vasculitis in the hands and feet, but that appears to have resolved now. The predisone(?) steroids along with some other drug appeared to blast the vasculitis but left Jenny very, very swollen, in her legs especially, and seemed to mark an increase in muscle weakness, the myositis I assume.
She is currently on her last day of immunoglobulin (5 days) and that appears to have eased the cough, fluid on legs easing and CK (?) muscle levels at 300, which is pretty good we are told.
She still has limited strength and a lot of pain. Unsure whether this is the steroids (20mg daily for the past 2 weeks but was IV 1g for a couple of days in hospital before tapering to 80, and 40 now 20). She suffers from high temperatures and sweating once or twice a day and the hospital are unsure whether this is an infection or the inflammation - they will not begin the immunosuppressants until infection is resolved or ruled out.
Although Jen has had a cough for some time - 5 years (doctors seen frequently but they couldn't see an issue and diagnosed idiopathic cough) it's only the last 3 moths that have seen the symptoms really esculate.
So I'm trying to find out what I can about ASS. It appears a very individual experience for everyone, so I know that any responses can only be generalized. I've read quite a bit and see that many, many people are able to live a relatively normal (or even normal) life with ASS
So...
I just wondered and assumed that this first, big flare up is often a bad one until it can be brought under control? Also, my wife suffers from severe anxiety, any advice to help ease this? She is spending 95% of her waking time in a state of fear - mostly of the unknown I think . She is to be transferred to St Thomas's hospital in London under the care of Professor David D'Cruz in the next day or so. I understand is an expert in this field.
Thanks for your time
B
Last updated 6 May 2021, 09:27 PM
6 May 2021, 09:27 PM
I have experienced an ache around my eyes for over five months. The ache is worse if I am in bright sunlight. I saw an optician and I mentioned about the discomfort around both eyes. The pressure in the eyes was no different from six years earlier when I was last tested. The optician recommended an eye mask which you heat in a microwave but this did not help as I tried it for about five weeks. I was diagnosed with Antisynthetase Syndrome in February this year following interstitial lung disease last summer.
31 Dec 2013, 04:03 PM
Burning eyes and dryness as well as a dry mouth were very distinctive features in the beginning, when my husband was first diagnosed with UIP. He actually went to his primary care physician and he immediately did blood work and it came back positive for Sjogren's. That led to other blood tests and resulted in the diagnosis of anitsynthetase. In any case, he started using Biomed toothpaste and mouthwash as well as eyedrops. He has been on Cellcept for about 3 1/2 years and those symptoms have gradually decreased since taking it.
10 Dec 2013, 02:40 PM
Oh my....I thought it was just me...Trobbing pain . I have been two to dr....the last one said really bad dry eye sydrome
Last updated 27 Feb 2021, 06:28 PM
27 Feb 2021, 06:28 PM
Hello, I never post on here but I've recently got great results for my severe case of mechanic hands so I wanted to share. I've had rough, peeling, cracked fingers for about 15 yrs and tried every lotion in the book without it helping. I finally went to a dermatologist specifically to see if I could do anything to help. Man, I wish I'd gone years ago. The difference is night and day. I now have smooth fingers like a "normal" person. I was doing everything wrong. The changes I made were:
1) using the RX steroid cream (Dipropionate) for 2 weeks twice a day with white gloves for at least an hour. 2) then using another Rx cream twice a day (Protopic) as maintenance 3) keep my hands out of water as much as possible and when they do get wet, always put lotion (listed below) on afterwards 4) don't use scented soap 5) don't use regular liquid soap 6) don't use antibacterial soap 7) wear rubber gloves for cleaning - don't let chemicals get on your hands 8) soap recommended is: CeraVe Bar, Vanicream, Cetaphil or Dove bar soap to wash hands 9) lotion recommended is: CeraVe, Vanicream, or Cetaphil lotion to hands after every handwashing 10) Use Aveeno Eczema Balm nightly to hands and sleep with white cotton gloves.
It all sounds like a pain in the neck but I was determined to try it to see if it worked. Worth the effort if it is a real problem for you. I know rough hands are not the worst part of this disease by far but it is a painful daily nuisance.
Last updated 3 Dec 2020, 09:58 PM
3 Dec 2020, 09:58 PM
Hi, i have recently been diagnosed with ASS. I want to know what is the future life scope, quality of life and survival?
29 Nov 2017, 12:58 AM
Hi All,
The latest Antisynthetase Syndrome podcast is now published and ready for you to listen!
You can listen on RareShare here: https://rareshare.org/podcasts/antisynthetase-syndrome-ask-the-experts-podcast-series-session-ii-11-20-2017
And on iTunes here: https://itunes.apple.com/us/podcast/rare-genomics-rareshare-podcast-series-ask-expert-patient/id1110553816
Thank you to everyone who submitted questions! We did our best to answer as many as possible.
Best,
Imogen
24 Oct 2017, 03:35 PM
What is is the cause of Antisynthetase Syndrome? How does it differ from Polymyositis? Is it possible for Antisynthetase Syndrome to go into remission or be cured? If so, what is the recommended treatment?
Thanks,
Charlotte O'Keefe
Last updated 5 Sep 2020, 04:06 AM
5 Sep 2020, 04:06 AM
we are doing the best we can. we keep track of the news, wear masks when we have to go out, use hand sanitizer whenever we are out and limit interactions with others. In Canada there is an APP that tells you if you have been exposed but that is like telling someone the gate is open after the horse has escaped ;(
I try to do most of our errands as my husband has ASS, but I worry a lot, I just try to be so careful - what else can one do?
Be SAFE EVERYONE. - Hopefully this will all be over before 2022
29 Aug 2020, 12:33 AM
Hi, I've been isolating all that I can, but I do have to get out and around occasionally. My spouse and I both take a lot more precautions than most people in our area, but I'm actually kinda resigned to the fact that we may become exposed. So far so good but I'm really concerned should I get Covid19 because I have a fair amount of pulmonary fibrosis already.
8 May 2020, 09:20 PM
How are rare disease communities coping with the coronavirus threat? Feel free to reflect on challenges you are facing, small victories, or anything else you feel comfortable sharing. My heart goes out to all of you and hope you are all safe!
Best regards, Shannon
Last updated 5 Sep 2020, 03:45 AM
5 Sep 2020, 03:45 AM
Hi Everyone!
I am new to this and hoping someone sees this and can offer some help. We are moving to a rural area of Eastern Ontario in Canada and I am trying to find a Dr that has knowledge about Antisynthetase - hopefully in the Kingston area. We have a Dr in Toronto just now, he is great but this has been as much a learning curve for him as it is for us. It will be a long drive if we continue to see him so hoping to get some names that he can send a referral for us. any suggestions are appreciated. STAY SAFE!
Last updated 29 Aug 2020, 01:49 PM
29 Aug 2020, 01:49 PM
Thanks for the information. I was on azithioprine for a year and 10 months and stopped taking it in Feb 2020. Went back for my 6 month Oncologist appointment in August, no cancer. Still not on any immune suprressing medications for antisynthetase syndrome and after the initail, horrible flare up that nearly killed me, once the HPV cancer was diagnosed and treated, I have had no more symptoms. I am back to hiking about 5 miles per day and working out on my weights. Back to my pre-illness weight. Have a few long term side effects from such a high dose of prednisone for so long and from the 35 rediation treatments on my neck, but other than that, doing well. Drs say I am a case that is in remission with no medications. I feel thankful and blessed.
29 Aug 2020, 12:37 AM
I developed squamous cell carcinoma about a year ago, some think it may be related to my use of azathioprine earlier in my disease. Got it all removed and I've been cancer free so far since then, but have to keep a much closer eye on my skin condition now. I'm no longer on azathioprine, switched to Cellcept a few years ago.
10 May 2020, 01:46 PM
So pleased you are free of cancer. I'm guessing the chemotherapy you had as treatment has also suppressed your immune system as it does for all chemo patients, and it has therefore kept your anti synthetase under control, a great side effect! Take care that as your immune system boosts itself back up that it doesn't kick start the anti synthetase again. Great to hear a positive outcome for you after what must have been a difficult time
Last updated 2 Jul 2020, 03:04 PM
2 Jul 2020, 03:04 PM
Hello,
Anybody taking Rapamycin instead of Cellcept.
Thank you
RGI/RareShare Ask the Experts Podcast Series-Antisynthetase Syndrome
Publication date: 22 Oct 2017
Community: Antisynthetase Syndrome
Rare Genomics Institute and RareShare are proud to notify you of the upcoming podcast discussing:
Living with Antisynthetase Syndrome -A Clinical & Research Perspective with Dr Sonye Danoff (Johns Hopkins) and Dr Frederick Miller (NIH)
Antisynthetase Syndrome Podcast Series-02/24/2015
Publication date: 24 Feb 2015
Community: Antisynthetase Syndrome
Featuring Dr Fredrick Miller (NIEHS, NIH), Dr Lisa Christopher-Stine (John Hopkins School of Medicine) and Dr Jimmy Lin (RGI/RareShare)
Antisynthetase Syndrome Ask the Experts Podcast Series, Session II - 11/20/2017
Publication date: 24 Nov 2017
Community: Antisynthetase Syndrome
Featuring Dr Sonye Danoff (Johns Hopkins Interstitial Lung Disease Clinic) and Dr Frederick Miller (National Institute of Environmental Health Sciences at the NIH Clinical Center) answering community questions about Antisynthetase Syndrome (ASS) including the latest clinical and research developments and treatment options. Hosted by Imogen Crispe and Deepa Kushwaha (Music credit: www.bensound.com)
Antisynthetase Syndrome: A Clinical and Research Perspective (Rare Genomics Institute & RareShare)
Publication date: 27 Feb 2017
Community: Antisynthetase Syndrome
Antisynthetase syndrome is a rare chronic autoimmune muscle disorder. Antisynthetase is also known as Anti-Synthetase Syndrome, Anti JO-1 Syndrome, Myositis Synthetase Syndrome, JO-1 Antisynthetase Polymyositis. There are 162 members in Antisynthetase community. In the past year we have created podcasts and ebooks on Antisynthetase syndrome with the collaboration of clinicians, community members and Rare Genomics Institute.
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Enrolling is easy.
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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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I was diagnosed with anti-sythetase syndrome at the end of 2017 after a 6 month duration of being extremely ill. I didnt understand what was going on with me but all my organs started shutting down...
I was diagnosed with Antisynthetase Syndrome in February of 2021 following interstitial lung disease during summer of 2020. I try to remain physically active to strengthen body and mind.
I am 28 and single. I am from india. I recently got diagnosed with Anti Synthetic Syndrome in September 2020. I am currently taking steroid and immunosupressive therapy. ANA profile shows presence...
I am a 58 year old man living in beautiful SW Montana with my wife. I have been blessed with good health my whole life. Up until early April I was working out on my elliptical 5 or 6...
I am a husband to a beautiful wife called Jenny. She has recently been diagnosed with ASS.
I'm here to get as much information as possible so I can pass it onto my wife. It's very...
I was diagnosed a year aago with antisynthetase syndrome - Anti jo 1. I have ILD, reynauds syndrome, polyarthritus, mechanics hands and at this time no muscle involvemnet. I currently...
123Genetix is an innovative not-for-profit organization created to advance rare disease research with our predictive computer modeling technology. We believe that rare should not mean forgotten. To...
I,am 3yrs in .I need a double lung.UPMC don't think i will make it off the table.because of my triple bypass.But will do the transplant.i,am on 10 at rest more when active.
I was diagnosed with Antisynthetase Syndrome in feb of 2013 at National Jewish Health in Denver, Colorado. My disease process has been life changing to say the least. I'm interested in...
I was recently diagnosed with Antisynathesis Syndrome , Myositis, and lung disease.
I am 55 yrs.old. I was first told my diagnosis was IPF. After more blood tests they have diagnosed me with the...
I have PL-7 positive Antisynthetase Syndrome with associated Polymyositis, and a few other autoimmune conditions.
12 months ago. Now on methotrexate and prednisolone with gradual reduction. Feeling very well.
have joined this...
My symptoms started with pain and swelling in my hands and knees and slight breathlessness,...
I have worked through the illness and I am a Pharmaceutical Sales Manager.
This has...
Was on ventilator with Boop not interstitial lung disease and in three hospitals over 100 days in 2009. Muscle bx confirmed diagnosis...
My husband has suffered from this disease since June 2011.
There have been times when just being a part of this community has made a real difference to my understanding of the disease, and it...
...
I initially was treated with large doses of prednisolone and Azithiropene I think its also known as imuran, After many months in...
I have had all the treatments. Which have worked pretty good. (I'm still part of the...
My names Mary, I am 20 years old.
I have Polymyositis, Scleoderma, Raynauds and being investigated for antisynthetase syndrome.
I have a 1 year old little...
My name is Lorelei but on the Internet I am know as Ladymermaid. Just Google Ladymermaid and you'll find out what I am up to out there.
I am 52 years old, I have two grown up children, I was diagnosed in 2009 with anti synthetase syndrome (jo-1) with ILD, raynauds, joint pain and carpal tunnel syndrome. I live in the UK...
Was down...
Diagnosed JO-1 positive in Sept. 2008
I had quit my job in spring 2007 to go back to school and get my degree in Interior Design. I have been sick for a year now. I was in the...
After a couple of years of going from doctor to doctor, trying to get a diagnose for some strange symptoms, I was finally diagnosed as having Antisynthetase Syndrome.
...
I was diagnosed this syndrome two months ago, after being sick for several months after my baby was born.
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