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Understanding Hypermobile Ehlers-Danlos Syndrome

May 1, 2025

Hypermobile Ehlers-Danlos Syndrome (hEDS)

Overview

  • hEDS is a genetic connective tissue disorder characterized by joint hypermobility and other systemic symptoms.
  • It affects individuals differently, and not all symptoms are present in every individual.

Musculoskeletal System

  • Joint Hypermobility: Greater range of motion in joints.
  • Joint Instability: Leads to subluxations, dislocations, and sprains.
  • Pain: Chronic and acute joint and muscle pain.
  • Sprains and Strains: Result from stretching or tearing of ligaments and tendons.
  • Osteoarthritis: Can occur earlier due to increased joint wear.
  • Arm Span-to-Height Ratio: Some have a ratio ≥ 1.05.

Skin

  • Hyperextensibility: Skin stretches beyond normal range.
  • Easy Bruising & Fragility: Prone to bruises and tears.
  • Soft, Velvety Skin: Noticeable in many individuals.
  • Poor Wound Healing & Atrophic Scars: Slow healing and sunken scars.
  • Stretch Marks: Present without weight changes or pregnancy.
  • Resistance to Local Anesthetics: Less effective in some individuals.

Nervous System

  • Dysautonomia: Autonomic dysfunction causing symptoms like tachycardia and hypotension.
  • Reduced Proprioception: Affects balance and coordination.
  • Neuropathic Pain: Chronic nerve pain.
  • Nerve Entrapment & Small Fiber Neuropathy: Causes pain and numbness in extremities.
  • Idiopathic Intracranial Hypertension & CSF Leaks: Causes headaches and other neurological symptoms.
  • Thoracic Outlet Syndrome: Compression causing neck/shoulder pain.

Spine

  • Scoliosis & Kyphosis: Abnormal spine curvatures.
  • Craniocervical and Atlantoaxial Instability: Causes headaches, neck pain, and neurological symptoms.
  • Chiari I Malformation & Tethered Cord Syndrome: Affects brain/spinal cord function.
  • Degenerative Disc Disease: Due to joint wear.

Head

  • Fatigue & Sleep Issues: Chronic tiredness and sleep disorders.
  • Headaches & Lightheadedness: Various causes including tension and dysautonomia.
  • Mental Health Issues: Anxiety, depression, ADHD, and autism spectrum disorder.

Mouth and Throat

  • High/Narrow Palate & Dental Crowding: Affects oral structure.
  • TMJ Dysfunction & Voice Disturbance: Joint and vocal issues.
  • Swallowing Difficulties: Known as dysphagia.

Eyes

  • Nearsightedness (Myopia): Difficulty seeing distant objects.

Cardiovascular System

  • Tachycardia: Fast heart rate due to dysautonomia.
  • Mitral Valve Prolapse & Aortic Root Dilation: Heart-related structural issues.

Gastrointestinal System

  • Dysmotility: Affects food movement through the digestive system.
  • GERD & Gastroparesis: Causes reflux and delayed stomach emptying.
  • IBS & Other Symptoms: Includes nausea, vomiting, bloating, constipation, and diarrhea.
  • Hernia & Abdominal Vascular Compression Syndromes: Structural issues causing pain and other symptoms.

Pelvic Organs

  • Voiding Dysfunction & Incontinence: Urinary control issues.
  • Prolapse & Dyspareunia: Pelvic organ and pain issues.
  • Menstrual Issues: Painful and heavy periods.

Immune System

  • Mast Cell Activation Syndrome (MCAS): Inflammatory and allergic responses.

Hands

  • Arachnodactyly: Long, slender fingers.

Feet

  • Piezogenic Papules: Painful fat bumps on heels.

Pregnancy

  • Symptom Changes: Worsening pain, instability, dysautonomia, and MCAS.
  • Increased Bleeding & Fast Labor: Due to tissue fragility and other factors.

This guide provides a comprehensive overview of the symptoms and systems affected by hEDS. Always seek professional medical advice for diagnosis and treatment.