Ehlers-Danlos Research at UCSF

Ehlers-Danlos Syndrome Research – Ehlers-Danlos Research at UCSF

This research group seems inactive at the moment, but their site provides some good general information about EDS. It also hypothesizes another type called EDS Type III Plus, which includes many more varied symptoms than the standard.

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.  

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.   

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.

These non-joint problems are in some cases more debilitating than their joint pain, and most notably include:

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

New EDS Center at UCSF: Pioneering Research in EDS III and III Plus

Over the past few years, over 200 patients have been evaluated at the UCSF genetics clinic for joint hyperflexibility, dislocations, and symptoms consistent with EDS III and EDS III Plus. From this clinical experience, we hypothesize that there is a relationship between these two EDS types, but the underlying genetic mechanism is unknown, and very little research is being done on EDS III.

Dr. Robert Nussbaum, renowned medical geneticist, has organized a team of specialists with interest in EDS III and proposed to establish a Center for the Study and Treatment of EDS III Plus.

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.

About Dr. Nussbaum

Dr. Robert L. Nussbaum, a board certified internist and medical geneticist, specializes in the care of adults with hereditary disorders. He is chief of Genomic Medicine at UCSF Medical Center and co-director of the Program in Cardiovascular Genetics at the UCSF Heart and Vascular Center, which cares for patients with inherited disorders of heart muscle, heart rhythm and large arteries, such as the aorta.

Dr. Robert Nussbaum is the Primary Investigator for the EDS Clinical Research Center. He will oversee the entire project, organize and chair regular meetings of the members of the team where protocols, data, and interpretation will be discussed and acted upon. He will analyze all molecular data, including whole genome sequencing and glycosaminoglycan analysis. He will oversee the Clinical Coordinator, Research Coordinator, Data Manager and Research Technician.      

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