Ehlers-Danlos Syndrome: Symptoms and Causes

Overview

• Ehlers-Danlos Syndrome (EDS): A group of inherited disorders impacting connective tissues (skin, joints, blood vessel walls).
• Characteristics:
  • Overly flexible joints.
  • Stretchy, fragile skin.
• Severe Variant: Vascular Ehlers-Danlos syndrome can lead to ruptured blood vessels, intestines, uterus.
• Genetic Counseling: Recommended for those with vascular EDS, especially before pregnancy.

Symptoms

• Common Signs:
  • Overly Flexible Joints: Loose connective tissue, leading to hypermobility, joint pain, and dislocations.
  • Stretchy Skin: Weakened connective tissue allows skin to stretch significantly; skin feels soft and velvety.
  • Fragile Skin: Poor healing; stitches might tear out, leaving scars that appear thin and crinkly.
• Symptom Variation: Depends on the specific type of EDS.
  • Most Common Type: Hypermobile EDS.
• Vascular EDS:
  • Distinctive facial features: thin nose, thin upper lip, small earlobes, prominent eyes.
  • Thin, translucent skin; visible blood vessels; easy bruising.
  • Risks: Ruptures in major arteries, uterus, or intestines.

Causes

• Genetic Basis:
  • Different types are linked to various genetic causes.
  • Hypermobile EDS: 50% chance of passing the gene to offspring if a parent has it.

Complications

• Joint Issues:
  • Dislocations, early-onset arthritis from overly flexible joints.
• Skin Issues:
  • Fragile skin leads to significant scarring.
• Vascular EDS Complications:
  • Risk of fatal ruptures in major blood vessels.
  • Increased uterine rupture risk during pregnancy.

Prevention

• Genetic Counseling: Recommended for those with personal or family history of EDS considering starting a family.
  • Helps understand inheritance and risks for children.