Ehlers-Danlos Syndrome (EDS) - Hypermobile Type

Introduction

• The video discusses the hypermobile type of Ehlers-Danlos Syndrome (EDS), aimed at patients, associations, and healthcare professionals.
• Hypermobile EDS is the most common among the 13 types of EDS, affecting approximately 1 in 5,000 people globally, qualifying it as a rare disease.

Genetics and Inheritance

• Inherited in an autosomal dominant pattern:
  • Each person inherits half of their genetic material from each parent.
  • If one parent has the genetic mutation, there is a 50% chance of passing it to offspring.
  • Can also result from a spontaneous mutation not inherited from parents.
• As of 2019, the genetic mutation for hypermobile EDS has not been identified.
• Diagnosis is clinical, based on 2017 criteria.
• Research sponsored by the Ehlers-Danlos Society is ongoing to identify the gene.

Signs and Symptoms

• Joint Issues:
  • Generalized joint hypermobility, recurrent dislocations, and subluxations.
• Skin Characteristics:
  • Soft, hyper-elastic skin that stretches more than usual.
• Pain:
  • Chronic and widespread pain.
• Cardiovascular Symptoms:
  • Mitral valve prolapse and mild aortic dilatation (diagnosed via ultrasound).
• Other Physical Features:
  • Atrophic scars, stretch marks, multiple/recurrent hernias, organ prolapses.
  • Marfanoid habitus: long, thin fingers, increased arm span to height ratio.

Comorbid Disorders

• Gastrointestinal Issues:
  • Gastroesophageal reflux disease (GERD) and gastroparesis.
• Autonomic Dysfunction (Dysautonomia):
  • Postural Orthostatic Tachycardia Syndrome (POTS).
• Mast Cell Disorders:
  • Mast Cell Activation Syndrome (MCAS), leading to allergic-like responses.
• Psychological Impact:
  • Chronic fatigue, anxiety, and depression due to chronic pain and frustration.

Diagnosis and Management

• Diagnosis is challenging due to symptom overlap with other diseases and low awareness in the medical community.
• Often requires seeing multiple specialists and undergoing numerous tests.
• No cure, only palliative care to alleviate symptoms:
  • Regular exercise and physiotherapy, especially low-impact exercises (e.g., water workouts).
  • Medications for pain relief and managing symptoms.
  • Use of orthoses for joint stability.

Support and Lifestyle

• Importance of family support and engaging in leisure activities.
• Seek psychological assistance if necessary.
• Follow medical advice and maintain a positive attitude to manage the condition better.

The video emphasizes the importance of awareness, early diagnosis, and holistic management of hypermobile EDS to improve patient quality of life.