Symptoms
Symptoms of EDS vary depending on the type but commonly include:
Joint Hypermobility: Unusually flexible joints that can easily dislocate.
Skin Hyperextensibility: Skin that stretches easily and may be velvety to the touch.
Tissue Fragility: Skin that bruises easily, heals poorly, and can lead to wide, atrophic scars.
Chronic Pain: Joint pain, muscle pain, and pain related to dislocations or subluxations.
Fatigue: Persistent tiredness and lack of energy.
Cardiovascular Problems: In some types, issues with blood vessels, such as aortic root dilation or dissection.
Digestive Issues: Gastrointestinal problems like irritable bowel syndrome (IBS) or gastroparesis.
Causes
EDS is caused by genetic mutations that affect the production or processing of collagen and other connective tissue proteins. These mutations can be inherited from one or both parents. Different types of EDS are associated with different genes.
Medicine Used
There is no cure for EDS, and treatment focuses on managing symptoms and preventing complications. Medications may include:
Pain relievers: Over-the-counter or prescription pain medications (NSAIDs, opioids) to manage pain.
Physical therapy: Exercises to strengthen muscles around joints and improve stability.
Braces and supports: To help stabilize joints and prevent dislocations.
Medications for specific complications: Such as beta-blockers for cardiovascular issues or medications for gastrointestinal problems.
Is Communicable
No, EDS is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Precautions for individuals with EDS may include:
Avoiding activities that put excessive stress on joints.
Using proper body mechanics.
Protecting skin from injury.
Consulting with healthcare professionals before surgery or medical procedures.
Regular monitoring for cardiovascular complications, especially in vascular EDS.
Genetic counseling for family planning.
How long does an outbreak last?
EDS is not an infectious disease with outbreaks. It is a chronic condition. Symptoms are ongoing, though their severity can fluctuate over time.
How is it diagnosed?
Diagnosis of EDS is based on:
Clinical evaluation: Assessing joint hypermobility, skin features, and other symptoms.
Medical history: Family history of EDS or related conditions.
Physical examination: Assessing joint range of motion and skin elasticity.
Genetic testing: To identify specific gene mutations associated with EDS (available for some types).
Echocardiogram: Used to assess the structure and function of the heart, especially the aorta in cases where vascular EDS is suspected.
Timeline of Symptoms
Symptoms can manifest at different ages:
Early childhood: Joint hypermobility may be noticeable, leading to frequent dislocations or clumsiness. Skin abnormalities like easy bruising may also be present.
Childhood and adolescence: Chronic pain and fatigue may develop, impacting daily activities and school performance.
Adulthood: Symptoms may stabilize or worsen, depending on the type of EDS and individual factors. Cardiovascular complications may become apparent.
Important Considerations
EDS is a spectrum disorder, and symptoms vary widely.
Early diagnosis and management are crucial to prevent complications.
A multidisciplinary approach to care is often necessary, involving physicians, physical therapists, and other healthcare professionals.
Individuals with EDS may experience significant limitations in their daily lives, and support from family, friends, and support groups is important.
Vascular EDS is the most severe type and requires close monitoring for life-threatening vascular complications.