“Ehlers-Danlos Syndrome (EDS): A Connective Tissue Disorder

Ehlers-Danlos Syndrome (EDS) is a group of conditions characterized by weakness or looseness of the connective tissue. Connective tissue gives tensile strength to such bodily structures as the heart and blood vessels, eyes, skin, gastrointestinal tract, ligaments, tendons, cartilage, and bones. Therefore, faulty connective tissue can structurally compromise many major organ systems as well as the musculoskeletal system.

EDS is almost always hereditary. The types of EDS differ in their specific genetic causes as well as the resulting quality and severity of associated medical problems. In each type of EDS, the connective tissue is weak because it contains defective collagen. Collagen is the most abundant protein in the human body, and provides structural strength to most human tissues.

EDS Type III: Joint Hypermobility and Chronic Pain

EDS Type III, also called Hypermobility Type, is the most common type of EDS. It is characterized by hyperflexiblity of the joints, chronic joint pain, delicate skin, and easy bruising. Patients with EDS III may have medical issues as children, but are often generally functional until their late teens or early 20s, when they begin experiencing chronic, disabling joint pain and frequent dislocations, either spontaneously or from minor trauma. Many have progressively worsening symptoms that are often dismissed by medical providers unfamiliar with EDS, and many are eventually unable to attend school or work or live independently.

Unlike other types of EDS, the genes associated with EDS III remain unknown.

EDS Type III Plus: Joints + Circulatory, Nervous System, Digestive, and Pain Symptoms

In addition to structural fragility of the joints and soft tissue, some people with EDS III have additional symptoms in other major organ systems. Such patients often develop Postural Orthostatic Tachycardia Syndrome (POTS), a condition that causes widespread dysfunction of the autonomic nervous system. These non-joint problems are in some cases more debilitating than their joint pain, and most notably include:

· Circulatory system: Sudden, dramatic decreases in blood pressure or increases in heart rate, leading to dizziness and fainting

· Central nervous system: Disturbances in memory, sleep, and cognitive functioning

· Digestive system: Frequent symptoms of bloating, poor stomach emptying, and irritable bowel syndrome

· Pain: Severe, debilitating chronic pain exceeding levels expected from the joint injuries alone

· Other neurologic symptoms, such as difficulty regulating temperature and respiration, chronic migraine, and more

The combination of EDS III with these additional symptoms is referred to as EDS III Plus. Our awareness of this type is emerging, but it is almost entirely unstudied, as these “plus” symptoms are not found in other EDS types.

Understanding and Treating EDS III Plus Will Change Lives

Currently, we can only treat the symptoms of EDS III and III Plus. Identifying the gene(s) associated with these conditions may further our understanding of their mechanisms, allow for risk prediction, and provide a target treatment.

Broader Applications of Studying EDS III and III Plus: Arthritis, Chronic Pain, Fibromyalgia, Disorders of the Circulatory, Digestive, or Nervous Systems

Discovery of the gene(s) associated with joint hypermobility, fragility, and pain in EDS III and III Plus would potentially allow for further understanding of the mechanism and treatment of joint disease in patients with other connective tissue and musculoskeletal diseases such as osteoarthritis, fibromyalgia, and other chronic pain syndromes.

Since the circulatory, nervous system, and digestive disorders of EDS III Plus also occur in patients without EDS, gaining a better understanding of their underlying genetic cause and mechanisms within the context of EDS could potentially help gain insight and treatment for many more people suffering from similar debilitating symptoms.”