What are the initial symptoms of Ehlers Danlos Syndrome (EDS)?

Initial Symptoms of Ehlers-Danlos Syndrome

The initial symptoms of Ehlers-Danlos Syndrome (EDS) typically include joint hypermobility, skin hyperextensibility, and tissue fragility, which can manifest as easy bruising and abnormal scarring. 1, 2

Cardinal Features of EDS

The most common presenting signs and symptoms include:

• Joint Hypermobility:

  • Excessive joint mobility beyond normal range
  • Often assessed using the Beighton scale (score ≥5 indicates generalized joint hypermobility) 1, 3
  • May present as frequent dislocations or subluxations
  • Unstable gait (present in 44% of patients) 3

• Skin Abnormalities:

  • Hyperextensible skin that stretches easily and returns slowly to normal
  • Soft, velvety skin texture
  • Poor wound healing with atrophic scarring
  • Easy bruising 1, 2

• Tissue Fragility:

  • Fragile tissues that tear or rupture easily
  • May manifest as hernias or organ ruptures in more severe types 4

Type-Specific Initial Presentations

Different EDS subtypes may present with distinctive initial symptoms:

• Hypermobile EDS (hEDS) - most common type (80-90% of cases) 1:

  • Generalized joint hypermobility
  • Chronic musculoskeletal pain
  • Gastrointestinal symptoms (common) 4
  • Often co-occurs with Postural Orthostatic Tachycardia Syndrome (POTS) and Mast Cell Activation Syndrome (MCAS) 1

• Vascular EDS:

  • Thin, translucent skin with visible veins
  • Characteristic facial features
  • Propensity for arterial, intestinal, or uterine rupture
  • Family history of sudden death 4

• Classical EDS:

  • Marked skin hyperextensibility
  • Widened atrophic scars
  • Joint hypermobility 5

Common Associated Findings

Early in the disease course, patients may also present with:

• Premature rupture of membranes during pregnancy (19%) 3
• Neonatal hypotonia (31%) 3
• Congenital hip dislocation (19%) 3
• Motor developmental delay (19%) 3
• Short stature (44%) 3
• Scoliosis (19%) 3
• Cardiovascular manifestations:
  • Aortic root dilatation
  • Valve prolapse (found in 43% of patients) 3
  • Arterial tortuosity (in specific subtypes) 4

Diagnostic Considerations

It's important to note that:

• The Beighton scale is a key assessment tool for joint hypermobility, evaluating:

  • Passive extension of little fingers beyond 90 degrees
  • Passive apposition of thumbs to forearm
  • Hyperextension of elbows beyond 10 degrees
  • Hyperextension of knees beyond 10 degrees
  • Forward flexion of trunk with knees extended, palms to floor 1

• Osteoporosis is commonly found when bone mineral density studies are performed 3

• Family history is positive in approximately 50% of cases 3

Clinical Pitfalls and Caveats

• EDS is often underdiagnosed or misdiagnosed due to symptom overlap with other connective tissue disorders 2
• Symptoms may be attributed to growing pains, hypochondria, or psychological issues before proper diagnosis
• The severity of symptoms varies widely between individuals, even within the same family 5
• Initial symptoms may be subtle and gradually worsen over time
• Vascular EDS has the most serious complications and requires early identification 4
• No single genetic test can diagnose all forms of EDS; hypermobile EDS (the most common type) currently has no identified genetic marker 1

Early recognition of these initial symptoms is crucial for appropriate management and prevention of complications in patients with EDS.