Disease

Ehlers-Danlos Syndrome

Overview of (EDS)

Ehlers-Danlos Syndrome (EDS) refers to a group of genetic disorders that affect the connective tissues which provide structure and support to the skin, muscles, ligaments and other organs and tissues. It is characterised by hyperelasticity of the skin, hypermobility of joints and tissue fragility. There are several types of EDS, each with its own distinct features and severity. Individuals with EDS may experience frequent joint dislocations, bruising and skin that is fragile and scars easily. EDS is a rare condition but awareness of it is growing globally.

Types of (EDS)

• Hypermobile Ehlers-Danlos Syndrome (hEDS): The most common type which affects joint hypermobility and stretchy skin.
•  Vascular Ehlers-Danlos Syndrome (vEDS): Involves fragile blood vessels and internal organs which leads to serious complications like ruptures.
•  Classical Ehlers-Danlos Syndrome (cEDS): Notable for skin elasticity and joint hypermobility.
•  Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS): Characterized by scoliosis (curved spine) and muscle weakness.
•  Arthrochalasia Ehlers-Danlos Syndrome (aEDS): Rare, with hypermobile joints and elastic skin.
•  Dermatosparaxis Ehlers-Danlos Syndrome (dEDS): Extreme skin fragility, prone to bruising and scarring.

Symptoms of (EDS)

• Joint hypermobility: Flexible joints that stretch beyond the normal range.
• Elastic, fragile skin: Skin that stretches easily, bruises and scars quickly.
• Frequent joint dislocations: Due to weakened connective tissue.
• Chronic pain: Joint or muscle pain from instability.
• Fatigue: Due to overworked muscles and joints.
• Delayed wound healing: Scars can be wider and healing is slow.
• Easy bruising: Skin easily bruises with minimal impact.
• Vascular issues (in certain types): Includes spontaneous internal bleeding or ruptures.

Causes of (EDS)

• Genetic mutations: Caused by mutations in genes responsible for collagen production.
• Collagen defects: Mutations lead to weak or abnormal collagen in connective tissues.
• Inheritance: Most types are inherited in an autosomal dominant pattern.
• Specific gene mutations: Such as COL5A1, COL5A2 and COL3A1.
• Rare genetic factors: Some types are linked to less common mutations.
• Family history: EDS is often inherited from a parent with the condition.
• Sporadic mutations: In rare cases, new mutations can occur.

Complications in (EDS)

• Arterial ruptures: These can cause internal bleeding, especially in vascular EDS.
• Joint instability: Leads to dislocations and early-onset osteoarthritis.
• Delayed wound healing: Skin can tear and scarring may be more severe.
• Chronic pain: Impacts mobility and quality of life.
• Scoliosis: Abnormal curvature of the spine, more common in some types of EDS.
• Vision issues: Retinal detachment or other eye complications in certain types.

Risk Factors of (EDS)

• Family history: EDS is passed down through families.
• Genetic mutations: Specific mutations in collagen-producing genes increase the risk.
• Type of EDS: Different forms of the syndrome have varying levels of severity.
• Age and gender: While EDS affects both men and women, certain types may be more prevalent in specific age groups.

Preventions of (EDS)

• No way to prevent: Since EDS is genetic, it cannot be prevented.
• Early diagnosis: Helps manage symptoms and prevent complications.
• Physical therapy: Builds strength around joints and prevents damage.
• Braces and splints: Help stabilise joints and avoid dislocations.
• Lifestyle changes: Avoid high impact sports or activities that could cause injury.