Ehlers-Danlos syndromes (EDS)

• What is Ehlers-Danlos Syndrome (EDS)
• Statistics on Ehlers-Danlos Syndrome (EDS)
• Risk Factors for Ehlers-Danlos Syndrome (EDS)
• Progression of Ehlers-Danlos Syndrome (EDS)
• Symptoms of Ehlers-Danlos Syndrome (EDS)
• Clinical Examination of Ehlers-Danlos Syndrome (EDS)
• How is Ehlers-Danlos Syndrome (EDS) Diagnosed?
• Prognosis of Ehlers-Danlos Syndrome (EDS)
• How is Ehlers-Danlos Syndrome (EDS) Treated?
• Ehlers-Danlos Syndrome (EDS) References

What is Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders that result from the production of abnormal collagen. This can have wide ranging effects on the skin, joints and blood vessels. Skin can become excessively extendible (stretchy), fragile and bruise easily. There is poor wound healing, leading to thin wide scars. Ligaments and tendons become lax, resulting in an increased risk of dislocations and the onset of early degenerative osteoarthritis. The walls of the blood vessels, intestines, uterus and foetal membranes in some patients with EDS may be particularly fragile, with potentially serious complications.
Historically, some patients with EDS have achieved fame as a result of their condition, with titles such as ‘The Human Pretzel’ and the ‘The Elastic Lady’.

Statistics on Ehlers-Danlos Syndrome (EDS)

The exact incidence of EDS is unknown, as mild or incomplete forms are underdiagnosed. Once believed to be a rare condition, it is now thought to affect up to 1 in every 5000 people.

Risk Factors for Ehlers-Danlos Syndrome (EDS)

It affects both men and women with no predisposition to race or ethnicity. There may be a family history – for instance in vascular EDS sudden death in a close relative. Progress on the Human Genome Project has provided valuable information regarding the actual genes involved. EDS is usually diagnosed in younger patients as typical features such as joint laxity, skin fragility and scarring tendencies are recognisable from early childhood.

Progression of Ehlers-Danlos Syndrome (EDS)

Over 10 subtypes of EDS have been identified, but overlap is common, making a specific diagnosis difficult. All subtypes demonstrate to some extent the following features: ‘stretchiness’ of the skin, joint laxity, tissue fragility, and poor wound healing.
Of the subtypes of EDS identified, Type IV or vascular EDS (affecting 6% of patients), is perhaps the most serious. Patients are at increased risk of rupturing blood vessels or internal organs. Surgery can pose major risks.

How is Ehlers-Danlos Syndrome (EDS) Diagnosed?

 

• Skin biopsy may be performed to check for connective tissue abnormalities
• X-rays may show the presence of calcified nodules under the skin.
• diagnostic tests during pregnancy are available for certain subtypes of EDS.

 

Prognosis of Ehlers-Danlos Syndrome (EDS)

Life expectancy for patients with the vascular form of EDS is shortened due to risk of heart and lung complications. For other types of EDS life expectancy and quality of life is normal, though caution is advised with some activities. Complications include scarring, slow wound healing and joint dislocations. Pregnancy may pose a risk in some patients; this needs to be discussed in patients planning to start a family.

How is Ehlers-Danlos Syndrome (EDS) Treated?

Patient education about their condition is essential, as is genetic counselling.
A MedicAlert bracelet is recommended in case of life-threatening events. Any surgical procedures should be approached with caution, due to bleeding risk and poor healing. Studies suggest that high dose ascorbic acid (vitamin C) may reduce bleeding time and improve wound healing and muscle strength, even in patients without vitamin deficiency.
Patients should be checked for scoliosis (increased curvature of the spine). They may be advised not to lift heavy loads that might increase joint strain, and to avoid preventable injuries (eg. from contact sports). Weight loss may be advised in some cases to reduce joint strain. A heart examination should be performed. If there is a defect in one of the heart valves, precautions may need to be taken when undergoing certain procedures, such as dental work. Regular eye appointments are recommended to check for short-sightedness and tears in the retina.

Ehlers-Danlos Syndrome (EDS) References

[1] Ceccolini, Schwartz. Ehlers-Danlos Syndrome. August 2004. (online) http://www.emedicine.com/derm/topic696.htm
[2] Kumar and Clark. Clinical Medicine 5th ed. 2002. WB Saunders
[3] Peeters AC, Kucharekova M, Timmermans J, et al. A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X.
Neth J Med. 2004 May;62(5):160-2.
[4] Schaefer. Ehlers-Danlos Syndrome. March 2002. (online) http://www.emedicine.com/ped/topic654.htm