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What the heck is a connective tissue disease?

This week, I was called to evaluate a young man with several aneurysms (ballooning of his blood vessels) and a dilated (widened) aorta.  The medical team thought he had a “connective tissue disease” because a family member also had a connective tissue disease–she had lupus.  Unfortunately, doctors can mean very different things when they talk about a “connective tissue disease;” this is a common source of confusion for doctors and patients alike.  After reading this post, I hope you’ll be able understand the difference.

Connective tissue is the “stuff” that holds your body together.  That is, the bones, ligaments, tendons, cartilage, fat, and “glue” that keeps all your organs in place.  Two very different types of diseases can affect these tissues–you can have problems in MAKING the connective tissues, or these tissues can be ATTACKED by the body’s own immune system.

In the first type of “connective tissue disease,” the body is unable to produce strong connective tissues.  It’s like trying to build a house with weak materials.   If the materials are weak, the house is likely to develop cracks on the walls, holes in the roof, and the whole structure may fall down.  There are many genetic (heritable) diseases that prevent the body from making high-quality building blocks.  Marfan syndrome, for example, is a disease where the body is unable to make high-quality fibrillin (a protein present in many types of connective tissues).  This causes weakness of various parts of the body including the eye (causing lens dislocation), the aorta (causing dilation and potential to rupture), and lungs (causing pneumothorax, or collapse of a lung).   Ehlers-Danlos is another group of diseases where patients have difficulties making collagen, another protein necessary for high-quality connective tissues.  In this disease, patients have loose joints that often dislocate, fragile skin that is unusually “stretchy,” and have difficulties healing after injuries.  In the most severe cases of Ehlers-Danlos, the blood vessels are also weak, making them prone to breaking and causing internal bleeding.  Because these types of connective tissue diseases are genetic (hereditary), medical geneticists are the experts in this field.

The second type of “connective tissue disease” does not involve problems in making the building blocks of the body.  In fact, the body is able to make all of the connective tissues without a problem.  However, once these tissues are made, they are attacked by the body’s own immune system (and thus they are autoimmune diseases).  The body’s own immune cells (white blood cells) are tricked into thinking that the connective tissue is abnormal, and thus they  attacking those tissues.  In a sense, the body can build a house with high-quality materials, but the house is invaded by wild animals that can damage the structure of the house.  In Sjogren syndrome, for example, the glands that make tears and saliva are attacked.  In scleroderma, the skin and internal organs are attacked.  In lupus, many organs can be attacked, including the kidneys, skin, and lung.  To date, we have very little idea what causes these diseases.  Because these types of diseases are autoimmune and often involve inflammation, rheumatologists are the experts in these types of illnesses.

Don’t you think we should change the name that we use to refer to these two very different types of diseases?  What names do you propose?

After reading this post, what kind of disease do you think my patient had? Genetic or autoimmune?

5 thoughts on “What the heck is a connective tissue disease?”

  1. Do I really get to play doctor and not have a doctor scream at me?

    Based on the history you provided of multiple aneurysms, aortic dilatation and a younger age, I’d strongly suspect Ehlers-Danlos syndrome, vascular type. I have EDS, classical type (formerly type II) with some mild features of the vascular type, but the latter was ruled out via genetic testing. Unfortunately, the rheumatologists in my neck of the woods are deplorable and after 11 years of chronic illness, I self-referred to a geneticist to look into EDS and voilà.

    I have read that those with genetic CTDs are more likely to develop autoimmune diseases in general, but I’m not sure if a relative with an autoimmune CTD, like lupus, has any relevance. For what it’s worth, I strongly feel that my EDS came down from a grandfather who also developed RA.

    Thanks for raising awareness…
    A

    1. Thanks for your comments! You have a fascinating, although unfortunately all-too-common story. Many patients with genetic connective tissue diseases (like EDS) often suffer from chronic pain due to their joint laxity causing microtrauma. They often develop fibromyalgia-like symptoms which don’t always respond to our usual treatment strategies. You did well by getting a second opinion of your disease. Well done!

      1. You’re welcome and thank you! I saw so many doctors on my journey, even one at Cedars in LA (I’m not in CA now), and always got the same misdiagnosis as I never knew I was hypermobile or that my skin was odd and they never checked. It literally took losing half my vision to figure this mystery out. I’m glad you know what EDS is and hope that the new generation of doctors (especially rheumatologists) will be much more informed than the current crop–the older M.D.s in my family aren’t really familiar with EDS, either.

        Take care and keep up the good work…

  2. I was just diagnosed with hypermobility– my fingers bend back, elbow skin flaps out; I can stand on my flat hands with straight legs. Playing tennis my knees used to pop out of socket and I have weak ankles that pop out of joint often. Blew out L4 and L5 disks long ago but I could still do a back bend and most recently have a bulging neck disk (maybe my neck muscles aren’t strong enough to hold my head up.) Had arthritis as a child, was diagnosed with a heart murmur and by Eastern doctors and acupuncturists as having a ropey or shy pulse. A tooth grinder I have receding gums, lichen planus and Reynaud’s Phenomenon but here’s my REAL PROBLEM: weak stomach muscles which every afternoon distend to agonizing and debilitating proportion. Have had numerous hernia repairs on my gut including an abdominoplasty and last year 66 sq.” of mesh sewn in, without ever being diagnosed with a connective tissue disorder. I only hear surgeons rant about how my stomach fascia looks like Swiss cheese and how I should be grateful for their countless hours of seamster work. Should I suck up this dwindling quality of life or see One More Specialist? If so, whom? Am in Cincinnati and I put together patientsdeckofcards.com out the wish to holler back– l.o.l.

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