Ehlers-Danlos syndrome (EDS) is a group of inherited disorders marked by extremely loose joints, very stretchy (hyperelastic) skin that bruises easily, and easily damaged blood vessels.
There are at least 13 types of EDS.
A variety of gene changes (mutations) cause problems with collagen. This is the material that provides strength and structure to:
The abnormal collagen leads to the symptoms associated with EDS. In some forms of the syndrome, the rupture of internal organs or abnormal heart valves can occur.
Family history is a risk factor in some cases.
Symptoms of EDS vary by type and may include:
Examination by a health care provider may show:
Tests to diagnose EDS include:
There is no specific cure for EDS. Individual problems and symptoms are evaluated and cared for appropriately. Physical therapy or evaluation by a doctor specializing in rehabilitation medicine is often needed.
More information and support for people with Ehlers-Danlos and their families can be found at:
The Ehlers-Danlos Society -- www.ehlers-danlos.com/support/
People with EDS generally have a normal life span. Intelligence is normal.
Those with the rare vascular type of EDS are at greater risk for rupture of a major organ or blood vessel. These people have a high risk for sudden death.
Possible complications of EDS include:
Contact your provider for an appointment if you have a family history of EDS and you are concerned about your risk or are planning to start a family.
Contact your provider for an appointment if you or your child has symptoms of EDS.
Genetic counseling is recommended for prospective parents with a family history of EDS. Those planning to start a family should be aware of the type of EDS they have and how it is passed down to children. This can be determined through testing and evaluations suggested by your provider or genetic counselor.
Identifying any significant health risks may help prevent severe complications by vigilant screening and lifestyle alterations.
Krakow D. Heritable diseases of connective tissue. In: Firestein GS, Budd RC, Gabriel SE, Koretzky GA, McInnes IB, O'Dell JR, eds. Firestein & Kelly's Textbook of Rheumatology. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 111.
Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 244.BACK TO TOP
Review Date: 12/4/2022
Reviewed By: Jatin M. Vyas, MD, PhD, Associate Professor in Medicine, Harvard Medical School; Associate in Medicine, Division of Infectious Disease, Department of Medicine, Massachusetts General Hospital, Boston, MA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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