Chiari's Related Conditions

 

 

Ehlers-Danlos Syndrom (E.D.S.) 

 

                         Individuals with EDS have a defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a "glue" in the body, adding strength and elasticity to connective tissue.

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms. Each type of EDS is a distinct disorder that "runs true" in a family. This means that an individual with Vascular Type will not have a child with Classical Type.    

 

            Some symptoms of EDS include: 

 

Joints:  joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint's normal range); early onset of osteoarthritis.

 

Skin: soft velvety-like skin; variable skin hyper-extensibility (stretchy skin); fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas); and early onset of stretch marks. 

 

Miscellaneous/Less Common: chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); Scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse;  gum disease; rotten teeth; flexibility; 'rolling' veins (ex. Physicians find it hard to draw blood); varicose veins; vision disturbances; fatigue; and can cause depression. 

 

 

                Types of E.D.S: 

                (click each type to get more info)

 

        *Classical Type*

        *Hypermobility Type*

        *Vascular Type*

        *Kyphoscoliosis Type*

        *Arthrochalasia Type*

        *Dermatosparaxis Type*

        *Tenascin-X Deficient Type*

 

 

                  How Is E.D.S. Diagnosed?

 

        The diagnosis of Ehlers-Danlos syndrome is based upon the clinical findings of the patient and the family history. For some types of Ehlers-Danlos syndrome, a skin biopsy to determine the chemical makeup of the connective tissue can help to suggest the diagnosis. It really stinks that there's no blood test for E.D.S. 

 

 

                  How Is E.D.S Treated?

            

         Ehlers-Danlos syndromes are treated according to the particular manifestations present in a given individual.

         Skin protection (from injury of trauma and sun, etc.) is critical. 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 necessary to maintain joint stability. Exercises that strengthen the muscles that support the joints can help to minimize joint injury. Contact sports and activities involving joint impact should be avoided.

 

 

{Information from http://www.ehlersdanlosnetwork.org and http://www.ednf.org/ , as well as some of my own info)