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Ehlers-Danlos Syndrome

An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility.

PubMed Health Glossary
(Source: NIH - National Cancer Institute)

About Ehlers-Danlos Syndrome

he problems present in the group of disorders known as Ehlers-Danlos syndrome (EDS) include changes in the physical properties of skin, joints, blood vessels, and other tissues such as ligaments and tendons.

People with Ehlers-Danlos syndrome have some degree of joint looseness; fragile, small blood vessels; abnormal scar formation and wound healing; and soft, velvety skin that stretches excessively but returns to normal after being pulled. Some forms can cause problems with the eyes and spine.

Ehlers-Danlos syndrome can also lead to weak internal organs, including the uterus, intestines, and large blood vessels. Mutations in several different genes are responsible for varying symptoms in the several types of Ehlers-Danlos syndrome. In most cases, the genetic defect involves collagen, the major protein-building material of bone...Read more about Inherited Connective Tissue Disease NIH - National Institute of Arthritis and Musculoskeletal and Skin Diseases

What works? Research summarized

Evidence reviews

Comparative Effectiveness of In-Hospital Use of Recombinant Factor VIIa for Off-Label Indications vs. Usual Care [Internet]

This report evaluates the level of evidence currently available to support the effectiveness and safety of using recombinant activated coagulation factor VII (rFVIIa) for clinical indications not approved by the U. S. Food and Drug Administration (FDA). rFVIIa is approved for a variety of uses in hemophilia patients who have developed antibody inhibitors that compromise the use of standard factor replacement. Use of this costly biologic product has expanded beyond these hemophilia-related indications to encompass a range of off-label uses, most of which are in-hospital uses. These uses differ substantially from the drug’s FDA approved label. The purpose of this report is two-fold: (1) To document the full range of clinical indications for which rFVIIa is being used and the types of studies available to evaluate these uses and (2) To provide a comparative effectiveness review of rFVIIa vs. usual care for several in-hospital clinical indications: intracranial hemorrhage, massive bleeding secondary to trauma, and the selected surgical procedures of cardiac surgery, liver transplantation, and prostatectomy.

Terms to know

Collagen
A fibrous protein found in cartilage and other connective tissue.
Connective Tissue
Supporting tissue that surrounds other tissues and organs. Specialized connective tissue includes bone, cartilage, blood, and fat.
Hypermobility
Hypermobility describes joints that stretch further than normal. For example, some hypermobile people can bend their thumbs backwards to their wrists. It can affect one or more joints throughout the body.
Joints
In medicine, the place where two or more bones are connected. Examples include the shoulder, elbow, knee, and jaw.

More about Ehlers-Danlos Syndrome

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Other terms to know: See all 4
Collagen, Connective Tissue, Hypermobility

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