Ehlers-Danlos Syndrome - Symptoms and Causes

Overview

• Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders.
• Affects skin, joints, and blood vessel walls.
• Connective tissue provides strength and elasticity.
• Symptoms include overly flexible joints, stretchy skin, and fragile skin.
• Vascular Ehlers-Danlos syndrome is more severe; can cause rupture of blood vessels, intestines, or uterus.

Symptoms

• Overly Flexible Joints: Looser connective tissue allows joints to move beyond normal range, causing joint pain and dislocations.
• Stretchy Skin: Skin stretches more than usual and feels soft and velvety.
• Fragile Skin: Poor wound healing, resulting in gaping scars.
• Vascular Ehlers-Danlos syndrome:
  • Distinctive facial features: thin nose, thin upper lip, small earlobes, prominent eyes.
  • Thin, translucent skin that bruises easily; visible blood vessels in fair-skinned individuals.
  • Possible rupture of the aorta and other large arteries.
  • Risk of rupture of the uterus and intestines.

Causes

• Different types of EDS have various genetic causes.
• Some are inherited and passed from parent to child.
• Hypermobile EDS has a 50% chance of being passed on.

Complications

• Joint dislocations and early-onset arthritis due to flexible joints.
• Fragile skin may develop prominent scarring.
• Vascular Ehlers-Danlos syndrome can lead to fatal ruptures of major blood vessels and rupture of organs like the uterus and intestines.
• Pregnancy increases the risk of uterine rupture.

Prevention

• Genetic counseling recommended for those with a family history considering starting a family.
• Helps understand inheritance patterns and risks for children.

For further reading and details, visit the Mayo Clinic's page on Ehlers-Danlos syndrome.