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
- Early osteoarthritis
- Degenerative disk disease
- 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 www.marfan.org