Project CAMEOS

Objective:

To renew the knowledge and symptoms of an Ehlers-Danlos patient, who may have not been properly diagnosed while living so that the affected family may get a proper diagnosis for other members with this connective tissue disorder.

Ehlers-Danlos syndrome is often overlooked as a culprit in multiple cases with the most common symptom being hyper mobility in most types.  They are categorized according to the form of genetic transmission in different types with many features differing between patients in any given type.  The fragile skin, loose joints and tissue fragility is often a result of abnormal genes that produce abnormal proteins that confer an inherited fragility of collagen (the normal protein "glue" of our tissue).  Deceased EDS patients COD may be defined as Undefined Collagen Vascular Disorder or similar sometimes on top of other causes.

In 2001, researchers discovered a new form of Ehlers-Danlos syndrome that is caused by an inherited abnormality in a protein other than collagen thats also plays a role in binding together cells of our tissues (including the skin, tendons, muscles and blood vessels).  Abnormalities in this protein called tenascin also lead to a form of Ehlers-Danlos syndrome. Research suspect that tenascin could play a role in regulating the normal distribution of collagen in the connective tissues of the body.  There are six major types and are classified according to their manifestations of signs and symptoms.  Those types may be labeled as Classical, Hypermobility, Vascular, Kyphoscoliosis, Arthrochalasia, Dermatosparaxis or Tenascin X Deficient.

Mutations in the ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes cause Ehlers-Danlos syndrome.  Some of these genes (COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2) provide instructions for making proteins that are used to assemble different types of collagen. Collagens are molecules that give structure and strength to connective tissues throughout the body. Other genes (ADAMTS2, PLOD1, and TNXB) provide instructions for making proteins that process or interact with collagen. Mutations that cause the different forms of Ehlers-Danlos syndrome disrupt the structure, production or processing of collagen; preventing these molecules from being assembled properly. These defects weaken connective tissues in the skin, bones and other parts of the body, resulting in the characteristic features of this condition.

It is suspected that Ehlers-Danlos is severely under diagnosed.  Unfortunately, this results in lack of knowledge by most physicians including how to treat such patients.  The Vascular type or Type IV being life threatening and/or fatal with all cases having a life expectancy of 48 years, although the numbers are high to meet this expectation in the early to late 20's. Statistics show young males commonly have a bowel perforation at the age of 14.  The diagnosis of Ehlers-Danlos syndrome is based upon the clinical findings of the patient and the family history.  For some types of EDS, a skin biopsy to determine the chemical makeup of the connective tissue can help to suggest the diagnosis.  

Dr. David Byers of the University of Washington heads the diagnosis of Ehlers-Danlos through biopsy or blood with his team and Dr. Nazli McDonnell of the NIH/NIA heads her own Research study of connective tissue diseases Clinical & Manifestations of Heritable Disorders.  Many other physicians also play a role in research, education and sub specialties.

It is important for living members of an affected family to know that skin protection is critical (from injury of trauma and sun).  Wounds must be tended with great care and infections treated and prevented.  Suturing can be difficult as the skin can be extremely fragile.  Joint injury must be avoided, occasionally bracing may be to maintain joint stability.  Exercises that strengthen the muscles that support the joints can help to minimize injury to the joints.  Contact sports and activities involving joint impact should be avoided.  Vascular EDS can also present with clubfeet and/or sleeping with eyes open.  It is not uncommon for Ehlers-Danlos syndrome to exist with other conditions, disorders or syndromes as well, such as POTS (postural orthostatic tachycardia syndrome), Aneurysms, EPS (Elastosis Perforans Serpiginosa), Chiari Malformations, Rectal Prolapse and Hypoplasia only to name a few.  Time is of the Essence in a living EDS patient with an emergency.  

The quickest way for this mom of an EDS child and EDSNC volunteer to inform many, is to work backwards with coroners and/or medical examiners who have direct or indirect contact with physicians in their surrounding areas or medical contacts. Specialists are also missing the mark with a diagnosis.  With your help, EDS may be more recognizable or suggested to be diagnosed within a given family or person through the medical community. Please help to bring awareness to this devastating disorder involving chronic pain, suffering and or death.  We would ultimately like to see an Ehlers-Danlos Syndrome poster(s) hanging in every office throughout the United States. Recognition will be given to individual offices through the dyingtolive.info website as a supporter in the efforts to save lives through CAUSE OF DEATH in a family member, upon your approval.