The autoimmune connective tissue disorders include various organ-specific and systemic conditions such as lupus and Sjogren's that affect structural tissue.
Connective tissue disorders include a family of more than 200 different disorders that affect connective tissues. Connective tissue disorders are caused primarily by gene mutations affecting the production of tissue and by a number of different specific and overlapping autoimmune diseases.
In autoimmune connective tissue disorders, specific organs (organ-specific diseases) or multiple organs (systemic diseases) may be affected. Up until the late 70’s, most systemic or rheumatological autoimmune diseases were referred to as connective tissue diseases or collagen diseases. Today, connective tissue diseases are classified as either 1) autoimmune connective tissue disorders such as lupus disorders, rheumatoid arthritis, and dermatomyositis or 2) heritable connective tissue disorders (HCTDs) such as Ehlers-Danlos syndrome, epidermolysis bullosa, and Marfan syndrome caused by gene mutations. In the HCTDs, alterations in affected genes may change the structure and development of connective tissue in specific organs.
Connective Tissue
Connective tissue is a glue-like material or matrix that connects the cells that make up the body’s tissues. Connective tissue gives the body’s tissues and organs strength, form, and flexibility. Connective tissue also provides nutrients to tissue and aids in the special functions of certain tissues. For instance, connective tissue in joints gives them the ability to move. Connective tissue is composed of dozens of proteins and compounds containing various combinations of protein and glucose. Connective tissues' component proteins include collagens, elastins, proteoglycans, and glycoproteins. Various combinations of these proteins are found in different tissues. For instance the connective tissue in ligaments is primarily composed of elastin. Connective tissue is found in many different organs, including the skin, bones, joints, heart, blood vessels, lungs, eyes and ears.
Autoimmune Connnective Tissue Disorders
The autoimmune connective tissue disorders include a number of specific conditions and overlap syndromes including:
Females are more likely to be affected than males, and although the prime age is 30-50 years, people of all ages may be affected. Most of the autoimmune connective tissue disorders affect multiple tissues, and the blood vessels are the organs most often affected. Many of the specific autoimmune connective disorders tend to overlap or appear in conjunction with other connective tissue disorders. For instance, patients with SLE may have joint problems characteristically seen in rheumatoid arthritis. The autoimmune connective tissue disorders may develop slowly over many years or they may present abruptly and show rapid progression, and they're typically characterized by alternating periods of remission and flares.
Symptoms in autoimmune connective disorders may affect the function of specific organs such as the kidney involvement that often occurs in SLE or the joint pain characteristic of rheumatoid arthritis. Pain, inflammation, tenderness, dryness and irritation of mucous membranes, and rashes and hives are all prominent features.
Specific connective tissue disorders cause specific symptoms, and specific disorders are associated with the presence of specific antinuclear antibody patterns and circulating blood levels of rheumatoid factor. Symptoms, autoantibody test results, inflammatory blood markers, and imaging tests are used to diagnose specific conditions. However, antinuclear (ANA) test results are sometimes inconclusive and there are known pitfalls to ANA testing. When an absence of classic symptoms and autoantibody patterns make diagnosis difficult, patients are said to have undifferentiated connective tissue disease. Undifferentiated connective tissue disorders may eventually develop into classic connective tissue diseases or they may remain undefined.
Resources:
Elaine Moore, Autoimmune Diseases and Their Environmental Triggers, Jefferson, NC: McFarland and Company, 2002
Thomas Medgser, Lupus in Overlap with Other Connective Tissue Diseases, Lupus Foundation of America, www.lupus.org/education/brochures/connective.html
The copyright of the article Connective Tissue Disorders in Rheumatism is owned by Elaine Moore. Permission to republish Connective Tissue Disorders in print or online must be granted by the author in writing.
Is there any connection between Mast Cell disorders and ANA test results,
and is there a connection between elevated levels of Prostaglandin Alpha F2
levels and autoimmune disorders? I would really appreciate your
response! Cole
Dec 3, 2008 6:47 PM
Elaine Moore :
Hi Cole, Mast cells have been implicated in some autoimmune diseases.
The allergic response has been known to trigger several different
autoimmune diseases. For instance, allergies to cedar pollen are considered
the primary trigger of Graves' disease in Japan. Also, levels of IgE
correlate well with symptoms. I haven't seen any studies correlating
mast cell disorders with ANA titers although since symptoms worsen with the
allergic response and flares are more likely to occur at this time, it's a
good possibility.
I'm not familiar with prostglandin alpha F2
levels as they're not typically performed in hospital labs. But I did a
search and found that they're related to rheumatic conditions. See
ard.bmj.com/cgi/doi/10.1136/ard.60.6.627 You bring up some good
questions. Best, Elaine
Jan 15, 2009 9:49 AM
Guest :
I really need some good information on connective tissue dissorder. I feel
I have been 'fobbed off' by specialists because I have an anxiety
dissorder. My symptoms are swellings on the insides of my knees with my
veins showing through. When I go to bed they become more swollen, get
hotter and hotter and are bright red. I use calomine lotion to cool my
knees before I go to bed. The inside of my nose feels as though its
'moving'!!! and I always have pain in my nose and ears. My fingers are
swollen and look like sausages. I have difficulty swallowing. My skin has
patterns of my veins, like a flush all over my body. This has developed
recently. I am 67 and hoped for a few more years with my children and
granddchildren.
Jan 15, 2009 3:32 PM
Elaine Moore :
Hi, What you're describing sounds more like a vascular disorder than a
connective tissue disorder. See the articles on vasculitis. There are
several types of vasculitis and you may want to see a vascular specialist.
Let us know what you find out and best to you, Elaine
Jan 25, 2009 5:56 PM
Guest :
Hi, I have recently seen a rheumatologist, he has yet to confirm diagnosis,
but he has told me I have either a connective tissue disease or a form of
Lupus. When I originally went to see him I thought it was only my joints
that was the problem, but since reading about the diseases I am thinking it
could be more. For a while I have been getting my words and sentences badly
mixed up and im also finding that I am getting quite nervous, short of
breath and hands are shaky when moving them, do you think it could be
related. I am due to see the specialist again soon.
Jan 26, 2009 7:08 AM
Elaine Moore :
Hi, Many of the connective tissue disorders can cause systemic
symptoms, that is, they involve other bodily systems besides the joints.
Your rheumatologist should run a battery of tests to help with your
diagnosis. Pain itself, can also cause some of the symptoms you mention.
Best,Elaine
Feb 5, 2009 2:41 AM
Guest :
Hi I am a 35 year old female and my doctor has referred me to a
rhumatoid specialist because I had high sedmentary deposits and evalated
ANA. I have always been a nervous person, with sensitive skin and in the
last few years i have had more frequent swelling and pains in the joints to
my fingers and elbows. Does this mean I have Arthritis? or some other
immune disorder?
Feb 5, 2009 8:23 AM
Elaine Moore :
Hi, An elevated sed rate occurs when there's inflammation, including
inflammatory conditions like arthritis and in infection. There are degrees
of elevation. Sometimes the level is slightly elevated for no apparent
reason and sometimes the levels are as high as 180, showing considerable
inflammation.
The ANA test can also be slightly elevated for no
real reason, and it can be very elevated with a specific pattern that fits
several different conditions. It's good that you'll be seeing a
rheumatologist. He can evaluate your symptoms and correlate them with these
results along with a few other tests to help with a diagnosis if you have
an autoimmune connective tissue disorder. Best to you, Elaine
Feb 6, 2009 6:59 PM
Guest :
I am a 25 year old woman who has suffered from chronic pain in my wrists
since I was 11. To date I have torn my trifibro cartiledge and ruptured two
ligaments in my wrists, several of my tendons are frayed or degenerating,
and I have recently learned that the ligaments in my feet are degenerating
as well. I've been shuffled out of doctor's offices by the dozens with no
explanation or research. Could this be some kind of autoimmune disorder
attacking my ligaments? Is there some place I could begin looking to try to
find an answer?
Many thanks, Brenda
Feb 7, 2009 11:05 AM
Elaine Moore :
Hi Brenda, I'd wonder about hypothyroidism causing these problems.
Carpal tunnel and similar problems are often associated with
hypothyroidism. Disorders like carpal tunnel can also be a sign of future
rheumatological diseases. see
www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1296219 Also, you
might want to check out the American Autoimmune and Related Disorders
website at www.aarda.org to see if something fits. I hope you find
these sites helpful. Best, Elaine
Feb 9, 2009 1:18 PM
Guest :
Thank you, Elaine - you've given me some great information and some ideas
to take to my doctor. Your advice is greatly appreciated!
Brenda
Feb 12, 2009 5:38 PM
Guest :
My previous ANA test result was shown as a titer of 1:1250. My present
test result came back shown as High at 194. Is this a different way to
report the titer count?
Feb 12, 2009 7:26 PM
Elaine Moore :
Hi, yes these tests were done by different testing methods. Each
report should list the normal or reference range and you'll want to compare
your levels to the range for that test. each should report should also
indicate the type of pattern observed. Have them fax or mail you the lab
reports. By law, you have a right to these results. Best, Elaine
Mar 12, 2009 4:47 PM
Guest :
My 17 yr old dd is currently in the hospital. Was hospitalized with an
intermittent vomiting problem (happens every 6-8 months and lasts for
weeks). Got an infection from a needle stick. Back in hospital for
emergency surgery to drain site on top of hand. 2 days later her entire arm
to the shoulder is swollen. No real blood numbers that stick out other than
it shows inflammation (which we can see by looking at her swollen arm!).
MRIs are inconclusive. More and more bleeding and clotting disorders are
being sent out as everything so far comes out normal. Could this be some
kind of connective tissue disorder? I really feel like the on and off
vomiting that she suffers from is connected and my long term pediatrician
does too. She will vomit for wks at a time and suffers from horrible nausea
and then slowly she gets better. All GI tests/scans/scopes are negative.
All doctors at our current hospital (we have 8 teams working on her
and looking in on her) admit she is a 'fascinating' case. Not what you want
to hear when it is your daughter.
Thanks!
Mar 12, 2009 6:52 PM
Elaine Moore :
Hi, I don't usually hear of nausea occurring in a connective tissue
disorder except for systemic Sjogren's, which can affect the glands in the
stomach mucosa.. It can occur in the autoimmune disease, gluten sensitivity
enteropathy, in which patients are intolerant of gluten protein in rye,
wheat and barley. Other autoimmune disorders affecting the gastrointestinal
tract include irritable bowel disease (IBD), including Crohn's disease.
Some medications can cause persistent nausea and perhaps your daughter is
being treated with something she's intolerant of. An ANA test would be the
most helpful test for diagnosing a connective tissue disorder. Best, Elaine
Mar 17, 2009 7:58 AM
Guest :
I am 64. All my life (since 20's) have had problems with muscle pain,
joints feeling swollen-tendinitis in elbow,shoulder,achilles
tendons,inflamation in breast bone, plantar faciatis, morton's neuroma. I have had chronic tendenitis in my achilles tendons for over a year. My family history: aunt with Lupus, cousin died last year from
complications of Schlerderma. I was diagonsed with undefined connective
tissue disease. Prescribed Plaquinel. However, symptons still persist.
Are there other drugs (besides steriods) and treatments that are
successful?
Mar 17, 2009 11:48 AM
Elaine Moore :
Hi, Osteoflex, with boswellia and turmeric, works to reduce
inflammation and doesn't have the side effects of prescription drugs. An
overall plan to reduce inflammation through dietary and lifestyle changes
might also be beneficial. Undifferentiated connective tissue diseases have
an underlying autoimmune origin. Anything that helps strengthen and not
stimulate the immune system can offer benefits. Low dose naltrexone is
becoming increasingly popular as a treatment that helps stop disease
progression by modulating the immune system. The Life Extension
Foundation at www.lef.org has a lot of information on dietary supplements
and lifestyle changes that help in reducing inflammation. Inflammation is
what causes autoimmune conditions to persist. Best, Elaine
Mar 19, 2009 10:00 AM
Guest :
Last year my 15 year old daughter was tested for Lupus and a specialist
said she didn't have it. The 1st of Jan. she twisted her knee and started
having severe pain. After physical therapy and no relief she was sent to
an orthopedic dr. who wants to test her for a connective tissue disorder
after reading up on this I am wondering if I should just take her back to
the specialist and have her look harder into the Lupus thing.
Mar 19, 2009 10:09 AM
Elaine Moore :
Hi, often, the ANA test is only positive when there are flares. It
would be helpful to get a copy of your daughter's past test results. If the Orthopedic doctor is willing to order the tests for a connective
tissue disorder now while she's having symptoms, that would probably be a
good idea. The orthopedic doctor may work with you and if tests suggest a
connective tissue disorder you could consult with a rheumatologist then.
Best to you and your daughter, Elaine
May 4, 2009 11:10 AM
Elaine Moore :
Hi Shelly,
A few things come to mind. Since you mention canker
sores, you might want to look into gluten sensitivity which can range from
a mild sensitivity to overt celiac disease. Read my article on Atypical
symptoms in celiac disease, autoimmunedisease.suite101.com/article.cfm/atypical_celiac_disease_
symptoms
Another connective tissue disorder that comes to mind
is the spondyloarthropathies, which tend to target teenage boys. See autoimmunedisease.suite101.com/article.cfm/the_spondyloarthropathies
It's good that you have an appointment with a rheumatologist. There
are also conditions of juvenile rheumatoid arthritis that he or she can
check for. He can also determine if your son's pains are related to bone
growth. Best, Elaine
Jun 10, 2009 1:41 PM
Elaine Moore :
Hi Michelle,
I'm sorry to hear about the problems and pain
you've been experiencing. Have your doctors run any tests that suggest an
autoimmune disorder, particularly the ANA test, RF test, HLAB27 test, etc.
I'm not a doctor, but what you're describing sounds like it
could be related to a genetic mutation rather than an autoimmune condition.
If you have any of those test results, it would be good to post them as the
results would be helpful in knowing what kind of doctor would be best to
see.
If you've been told it is an autoimmune connective tissue
disorder you might want to contact Dr. Noel Rose at Johns Hopkins
University to see who he recommends. You might also want to check the
resources at www.aarda.org. Dr. Rose is on the board of directors there.
I'll read over your post again and see if anything rings a bell. If you
think of any other symptoms you forgot to mention you can also contact me
via my website at www.elaine-moore.com. Best, Elaine
Jun 11, 2009 4:31 PM
Elaine Moore :
Hi,
I think that your GP ran an antinuclear antibody (ANA) test
because there's no specific blood test for lupus. See
autoimmunedisease.suite101.com/article.cfm/anatestpatterns
The
ANA can be positive in some types of vasculitis and also in rheumatoid
arthritis.
It would be best if you went to a rheumatologist.
Rheumatologists specialize in connective tissue disorders. It's important
to get a proper diagnosis and also early treatment if it's needed.
Anything you can do to strengthen, not stimulate, your immune
system can be helpful, including avoiding chemical preservatives and
processed foods and eating more whole and raw foods. Fresh berries and
vegetables are good because they help reduce inflammation and provide
antioxidants. A Mediterranean-type diet is a good one to follow. Best to
you, Elaine
Jun 15, 2009 7:18 PM
Elaine Moore :
Hi,
Dietary recommendations for lupus are the same as those for
other connective tissue disorders. Your primary goal is reducing
inflammation. Here's an article I wrote on diet and lifestyle
recommendations for lupus that may help you. rheumatism.suite101.com/article.cfm/diet_and_lifestyle_in_lupus
Best, Elaine
Jul 7, 2009 10:07 AM
Elaine Moore :
Hi, I haven't seen any mention of a link between neuro-retinitis and
connective tissue diseases. Best, Elaine
Jul 27, 2009 11:57 AM
Elaine Moore :
Hi, Your father's doctor knows best but I wouldn't be surprised if he
was kept on corticosteroids for an extended period using a low dose. Best,
Elaine
Aug 27, 2009 10:28 AM
Elaine Moore :
Hi, Some connective tissue (collagen) disorders worsen in pregnancy
and some improve. Your doctor will have a better idea if he knows what
disorder you have. The ANA titer typically rises during flares and falls
during periods or remission. Best, Elaine
Sep 4, 2009 6:54 PM
Elaine Moore :
Hi, Sorry for the delay. Some connective tissue disorders, like
Sjogren's disease, can be more of a problem if there's a systemic
involvement. Connective tissue disorders are shown to run a better
course in patients who have adequate vitamin D. Your friend may want to
have a vitamin D level, and supplement if needed. Corticosteroids are
often used and they can be rough on the body used long-term at high doses.
Perhaps that's what her physician meant. Other supplements like turmeric
and boswellia can reduce inflammation without harming the body. And an
anti-inflammatory diet can also help. Best, Elaine
Sep 11, 2009 12:42 PM
Elaine Moore :
Hi Jackie, Balance problems can be caused by Sjogren's or any of the
systemic connective tissue disorders and the underlying cause can be
inflammation. You might want to read Barry Sears's book on Toxic Fat, which
describes inflammation and provides suggestions for reducing it. Best,
Elaine
Sep 19, 2009 4:47 AM
Guest :
HI everyone.. well I'm living in Japan right now.. so it's really hard to
get doctors advice.. but one i saw said i might have connective tissue
disorder. The first symptom I noticed are veins showing on my palms more
and rashes throughout my body.. are these possible symptoms? please let me
know ASAP.. I'm really worried.
Sep 22, 2009 10:20 AM
Elaine Moore :
Hi, Enlarged veins in your palms don't offhand sound related to
connective tissue disease. Usually, joint pain in a predominant symptom.
Vasculitis can cause veins to appear enlarged but so can heat and increased
blood flow. Rash can have many different causes including allergic
reactions, viruses, bacterial infections, etc. Rash can also occur in
several different connective tissue disorders such as lupus and it can
occur in dermatitis herpetiformis in celiac or thyroid disorders.
If you suspect connective tissue disease, blood tests for ANA can help
with confirming or ruling out these conditions. Best, Elaine
Sep 25, 2009 12:28 PM
Guest :
Perhaps you could help me by telling me what test are needed to dertime
what exactly my husband has. Bloodwork was done and it showed positive for
Lupas but then told from that stran it was futher tested and said he have
connective tissue disease. We go back Sept 30th and I would like to know
what exactlty to ask for so that we can see what the best course of action
will be. Still just very unclear on what my husband has but know it is
something not good. He had the same simple surgey (Carprul Tunnel
Realease)in August 2x's and it is worse now than before. When the Dr went
in he said there was alot of scar tissue but it had only been 3 weeks aince
the first procedure. Is that even possible? I look froward to hearing from
you soon and thank you for taking the time to want to help others.
Sep 25, 2009 7:29 PM
Elaine Moore :
Hi, I'm sorry to hear that your husband's not feeling well. It
would help if you asked for copies of all your husband's lab results. By
law, he has a right to them and you do as well if he indicates that you can
have them (signing the HIPAA form). It sounds like he had a positive
ANA test result but that the ds-DNA antibody test wasn't positive. The
ds-DNA antibody test is positive in lupus. It could be that the ANA is
positive, there's evidence of arthritis but not all of the criteria fit for
a specific disorder. Read my article on undifferentiated connective tissue
disease--it might be in a blog. A test for RNP antibodies would be
helpful and so would a test for HLAB27. Let me know what other labs have
been done. Best, elaine
Sep 28, 2009 5:14 PM
Guest :
Am dealing with health isssues with my 16 month old daughter - she has an
internal hemangioma on her chest and has been having severe nose bleeds
(twice a week) for about 8 months - she is going into Monash Medical Centre
tomorrow to have her nose investigated and cauterised as required. When
conversing with her pediatric ear nose and throat specialist he indicated
that he had concerns that she may be suffering from a collagen disorder as
well. Her health has not been right since about 8 weeks there just seems
to always be something - most recently she has experienced a bacterial skin
infection which has required antibiotics - this same infection has flared
up again only a couple of weeks after the last one cleared up! I am feeling
overwhelmed with the whole situation and don't know where or what to start
researching for my own information - I more want to make sure I ask the
right questions to try and make sure she is diagnosed correctly and her
health can imporve so that we can all start enjoying life as we should -
any advice would be greatly appreciated Rebecca
Sep 28, 2009 5:33 PM
Guest :
Am dealing with health isssues with my 16 month old daughter - she has an
internal hemangioma on her chest and has been having severe nose bleeds
(twice a week) for about 8 months - she is going into Monash Medical Centre
tomorrow to have her nose investigated and cauterised as required. When
conversing with her pediatric ear nose and throat specialist he indicated
that he had concerns that she may be suffering from a collagen disorder as
well. Her health has not been right since about 8 weeks there just seems
to always be something - most recently she has experienced a bacterial skin
infection which has required antibiotics - this same infection has flared
up again only a couple of weeks after the last one cleared up! I am feeling
overwhelmed with the whole situation and don't know where or what to start
researching for my own information - I more want to make sure I ask the
right questions to try and make sure she is diagnosed correctly and her
health can imporve so that we can all start enjoying life as we should -
any advice would be greatly appreciated Rebecca
Sep 29, 2009 6:11 AM
Elaine Moore :
Hi Rebecca, I'm sorry to hear that your daughter has been ill. Collagen disorders is an older term that refers to connective tissue
disorders. Some physicians may also use it to refer to autoimmune disorders
in general.
Some autoimmune disorders, such as idiopathic
thrombocytopenic purpura (ITP), are caused by low platelet counts. Bleeding
can be also caused by various clotting system disorders, such as factor
VIII deficiency. There are treatments for these conditions if they're
diagnosed.
Ask for copies of all lab results and pay attention
to any flagged, high or low results. For instance a low platelet count,
which would suggest a work-up for ITP should be done. Abnormal coagulation
tests, like an abnormal Protime (PT) and/or PTT would indicate a need to
test for clotting disorders. I hope this helps. Best, Elaine
Oct 29, 2009 10:52 AM
Elaine Moore :
Hi, You need to ask your doctor how long they want you to stay on
immunosuppressant. They might let you stop them to see how you do without
them. Some of these disorders do resolve. Best, Elaine
