Connective Tissue Disorders

Connective Tissue Disorders

Connective tissue is the most diverse of the body’s four tissue types. If I were to describe it to you in a “nutshell” it would look something like this: connective tissue is the glue of the body. It holds everything together both inside and out (organs, joints, arteries, everything). As you can imagine, it does a very important job and is found and needed in virtually every fraction of the body.

Connective tissue disorders (CTDs) There are over 200 disorders that impact connective tissue. Some, are the result of an infection, others the result of injuries, for example; scars. The class of CTDs my own disorder falls under are the genetic class, such as Ehlers-Danlos syndrome, Marfan syndrome, and Loeys-Dietz. Basically, these disorders cause a defect in the way that your body produces connective tissue, causing the tissue to become weak and faulty which in turn causes it to be more prone to stretching and tearing. Because of the amount of connective tissue in the body and it’s importance CTDs can cause a multitude of problems with virtually limitless different results and health effects.

Marfan Syndrome is perhaps the most well known genetic connective tissue disorder and is the one that my own tissue disorder resembles the most. According to the Marfan Foundation’s website “about 1 in 5,000 people have Marfan syndrome. This includes men and women of all races and ethnic groups.” Marfan Syndrome is carried by a gene called the FBN1 gene. A single parent with the disorder has a 50/50 chance of passing it on to each child they have.

The body systems effected by Marfan Syndrome are:

The Cardiovascular System

  • Dilated/enlarged aorta (the main blood vessel carrying blood from the heart)
  • Mitral Valve Prolapse (a valve in the heart becomes “floppy”)
  • Aortic Dissection (a medical emergency in which the layers of the aorta separate potentially causing it to tear)

The Ocular System

  • Myopia (severe nearsightedness)
  • Dislocation of the eye lens (lens subluxation)
  • Detached retina
  • Early cataracts
  • Early glaucoma

The Skeletal System

  • Long arms and legs
  • Spine curvature (scoliosis or kyphosis)
  • Protruding or receding chest (pectus excavatum or pectus carinatum)
  • A tall, thin body type
  • Long , thing fingers
  • Crowded teeth
  • Loose, flexible joints
  • Flat feet
  • High palate arch
  • Thin, narrow face

Other possible symptoms include

  • Unexplained stretch marks
  • Sudden lung collapse (spontaneous pneumothorax)
  • Swelling of the sack surrounding the spinal column (dural ectasia)
  • Sleep apnea
  • Cysts
  • Early osteoarthritis
  • Degenerative disk disease
  • Hernias
  • Temporomandibular joint disorder (chronic inflammation of the jaw joint)
  • Costochondritis (inflammation of rib cartilage)

The list of potential side effects goes on and on due to the complexity and extensive function of the connective tissue and the fact that it can be seen throughout the entire body, literally from head to toe.

How are genetic Connective Tissue Disorders diagnosed?

When seeking a diagnosis your family history is taken, along with any symptoms you may have. If you exhibit some core features of the disorder ie; tall, thin body type or dislocated lenses etc., and you have a parent known to have Marfan Syndrome then it is expected that you too would be diagnosed. However, it’s possible for the gene mutation that causes Marfan Syndrome and disorders like it to “spontaneously mutate” meaning you will get the disorder even if neither of your parents have it.

What causes genetic Connective Tissue Disorders?

As with other genetic disorders genetic CTDs are caused by a mutation in the gene responsible for that particular part of the body. They are potentially passed along through generations of families with each child parented by a carrier of the mutation having a 50/50 chance of also receiving it.

How are genetic Connective Tissue Disorders treated?

There is no overall cure for Marfan Syndrome and similar disorders, each individual symptom must be dealt with separately. For example, yearly echo-cardiograms (ultrasounds of the heart) are given to monitor progression of aortic root dilation and prevent aortic dissection. When the aorta becomes more dangerously dilated open heart surgery is performed and an artificial valve is used to replace the damaged portion. 

To learn more visit the Marfan Foundation’s website at 

17 thoughts on “Connective Tissue Disorders

  1. was diagnosed with marfan in 2007. had 5 collapsed lungs in a year. the first i was still at over 85% oxygen and they would not b lieve it was collapsed. upon my insistance the ambulace took me to emerg and sure enough it was collapsed. b cause i could still breath comfortably i refused the chest tube. 4 doctors held me down against my will snd sliced my chest open to put in the tube. for two weeks it hurt until it was leaking liquid. three doctors stood in front if me debating who was gonna take out the chest tube. by the time they turned to me they noticed i had already pulled it out. the second collapse they again put in the tube. the third collapse i had the exray and went home. sat in the couch like i had the flu and didnt tell anyone. we were down the street from the hospital so it wasnt a big distance in case. within a week my lung was inflated. i healed better my way. i continue to heal my collapsed lungs at home. my choice. I met a dr who worked with marfan patients in africa. aparantly the syndrome us bad there. her advice to me is what i follow. stay the hell away from doctors they will end up killing me. they do not understand ir know the disease. My cardiologist in 2007 said i wont live 6 months after i had a heart attack in 2007. never saw him again. i took my own health initiatives; eat peals like crazy. meditate. i should stop smoking cuz it actually makes marfan worse. but either way the point is… im alive and with an awesome quality of life. good luck all!


  2. Our family has found out within the last few years that we have a faulty gene. Out of the 10 of us sibs there are only two that are completely symptom free. We all have from bulges up to a 5.5 ascending thoracic aortic aneurysm.
    My brother was operated on 1 1/2 years ago and had many complications as it seems he has connective tissue problems.
    Four operations within 2 weeks or so. First aortic repair, then a bleed, then a hernia and finally his staples tore out of his chest, some coming right through bone.
    His surgeon called him an OR hog. Lol.
    The ten of us go to the connective tissue dept run by Dr. Horne and it’s a little confusing because most of us have the aneursym but only a few have connective disorder issues. I have a 4.2 aneursym but no connective tissue issues.
    We are lucky as my brother’s blood is now in Texas where they are trying to isolate the gene. Toronto tried but no luck. Our children and great grandchildren can be tested by a simple blood test if they find it. Too many CT scans are not healthy.


    • Hi Maureen! Thank you for your comment, I’m so sorry it took me so long to reply to you. I usually try to do so right away but I haven’t been on here at all much the past few months. Hopefully I’ll be back posting and replying regularly again in the very near future.

      Texas – as far as I know – was also where my blood sample was sent for my genetic test. It takes a bit longer but I’ve heard that it’s one of the best places to have the testing done. They only tested me for Marfan Syndrome-causing genetic mutations, and only on the FBN1 gene (instead of the FBN2 as well) because that’s all that we could get the cost covered for (really grateful that they at least did that though!). We had figured that it would likely come back negative (which it did) because my disorder is so atypical of just Marfan Syndrome and – aside from my eyes – the older I get the more closely it actually resembles EDS or possibly even a mix of the two disorders. In my house we refer to it as “Katie’s Disorder” sometimes because I don’t fit in any one category lol. I had hoped for a positive result just so I’d finally have more of an answer but it’s still so nice to even just know that I have a tissue disorder after so many years of uncertainty.

      Your family’s situation sounds quite interesting and unique! It sounds like your brother went through quite the ordeal, it all sounds terrifying to me if I’m honest! Especially the staples tearing (that’s always been a fear of mine), what a nightmare all of that must have been for him. I hope they’re able to isolate the gene for you all – not that I’m hoping you have a disorder, it’s just that once that’s been done the testing is a lot cheaper and faster because they don’t have to look at such a large variety, instead they know exactly which gene and mutation to go straight for.

      Good luck to all of you and thanks again for the comment!! :)


    • Katie after rereading your reply l realize l was very insensitive about your future worries. They are making so many advances in aorta repairs since my brother’s operation. They now can go through the groin and not even disturb your chest. And that is only if you get an aneurysm which is a very big IF. Again forgive me for being so insensitive. All the best.
      Maureen Naugler


      • No worries Maureen, I didn’t find your comment insensitive at all! It’s all fine. :) That being said, it was kind of you to take the time to write this comment to me just in case, so thank you, I appreciate that!

        I like to be as educated and aware as possible when it comes to my disorder and am involved in many online support forums for people with Marfan Syndrome and the like and sadly there’s a pretty steady stream of stories similar to your brother’s.

        I wish you all the best with everything.


  3. Hi Katie :D
    As usual, I click randomly on LIKE in other blogs and goodness knows where I end up. A bit like watching a YouTube video of a comedy sketch and ending up an hour later learning how to make a cuckoo clock.
    So I have stumbled into your blog and had to find out what “Connective Tissue Disorders” are. My first instinct was that you had problems getting the tissues out of a Kleenex box ;)
    But no. I have found out that you are really going through a very painful medical condition. I really do wish you well and I hope a cure is found for you.
    All I can do is offer you a big hug. Ralph xox :D


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  6. Hello Kate
    Iwas done for the nght. Iwa sgoing to turn music ona nd try to sleep. And then I was gided to your blog. Why?

    I have CTD as well I have inever had the honor of meeting another and ould not sleep at all knowing there was this connection.

    I am doing really well I am happy to say, but I have een doing this for 29 yrs. I want to share and say that you must shelf some of your pain – table until you meet me. I will take some and carry it off your shoulders. It will of course not be the physical pain but I could listen. And if we can cope better we can get through another minute, another houir and maybe a day.

    I am thriving now in spite of what pain & fatigue does to me. trying to take me down. I was just thinking..get outta my way mountain I got some living to do.. on my own terms..

    Take care and hang in there. it does get better i promise. ~ BB


    • I was certain that I had responded to this wonderful comment and was horrified when I seen that I hadn’t! I’m so happy to be able to read your blog and that there is that connection. You sound like such a strong, positive person and I love your attitude and outlook.
      I would be very happy to get in touch with you, and I’m always around and up for a chat!


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