Ehlers-Danlos Syndrome

Overview

• Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders affecting connective tissues, primarily skin, joints, and blood vessels.
• Connective tissue provides strength and elasticity; in EDS, these tissues are weaker.

Symptoms

• Overly flexible joints: Joints can move beyond normal limits, leading to pain and dislocations.
• Stretchy skin: Skin can stretch more than usual but returns to place. It may feel soft and velvety.
• Fragile skin: Skin does not heal well; stitches may tear out, causing thin, crinkly scars.
• Symptom severity varies depending on the EDS type.

Vascular Ehlers-Danlos Syndrome

• Features include thin nose, thin upper lip, small earlobes, and prominent eyes.
• Skin is thin, translucent, and bruises easily.
• Can weaken arteries, leading to potential ruptures, which can be fatal.

Causes

• EDS types are linked to genetic causes, often inherited from parents.
• Hypermobile Ehlers-Danlos Syndrome has a 50% chance of being passed to offspring.

Complications

• Joint dislocations and early-onset arthritis from overly flexible joints.
• Prominent scarring due to fragile skin.
• Vascular EDS can cause fatal ruptures of major blood vessels, uterus, or intestines.
• Pregnancy increases the risk of uterine rupture.

Prevention

• Genetic counseling is recommended for those with personal or family history of EDS, especially for family planning.

Important Considerations

• EDS affects the body's ability to repair and maintain connective tissues, leading to potential health complications.
• Management requires a multidisciplinary approach including genetic counseling and supportive care.