Ehlers-Danlos Syndrome & Joint Hypermobility: Causes, Symptoms, and Management

What is the disease that makes your joints loose?

The primary condition often associated with excessively loose joints is Ehlers-Danlos Syndrome (EDS), a group of inherited connective tissue disorders primarily affecting collagen, the body's most abundant protein responsible for strength and elasticity.

Understanding Joint Hypermobility

Joint hypermobility, often colloquially referred to as "loose joints" or "double-jointedness," describes joints that move beyond the normal range of motion. While some individuals may have generalized joint hypermobility without any associated problems, for others, it can be a symptom of an underlying systemic condition affecting the body's connective tissues. Connective tissue, made up of proteins like collagen and elastin, provides strength, elasticity, and support to skin, tendons, ligaments, blood vessels, and internal organs. When there's a defect in these tissues, particularly collagen, it can lead to instability and laxity in the joints.

Ehlers-Danlos Syndromes (EDS): The Primary Answer

Ehlers-Danlos Syndromes (EDS) are a group of hereditary disorders that affect connective tissues, primarily the skin, joints, and blood vessel walls. The underlying problem in most types of EDS is a defect in the synthesis or processing of collagen, leading to tissues that are more elastic and fragile than normal.

Key Characteristics

The hallmark features of EDS, particularly the hypermobile type (hEDS), include:

• Joint Hypermobility: Often severe, leading to frequent subluxations (partial dislocations) and dislocations. This is due to lax ligaments and joint capsules.
• Skin Hyperextensibility: Skin that is unusually soft, velvety, and can be stretched far from the body before returning to normal.
• Tissue Fragility: Easy bruising, slow and poor wound healing, and fragile blood vessels.

Types of EDS

There are 13 recognized types of EDS, each with distinct genetic causes and clinical manifestations. The most common type, and the one most directly associated with generalized joint looseness, is Hypermobile Ehlers-Danlos Syndrome (hEDS). Unlike many other EDS types, the specific genetic mutation for hEDS has not yet been identified, making its diagnosis primarily clinical. Other types, such as Classical EDS (cEDS) and Vascular EDS (vEDS), also involve joint hypermobility but have additional, more severe systemic features.

Hypermobility Spectrum Disorder (HSD)

For individuals who experience symptomatic joint hypermobility but do not meet the full diagnostic criteria for Ehlers-Danlos Syndrome, the diagnosis of Hypermobility Spectrum Disorder (HSD) is often given. HSD encompasses a range of hypermobility presentations, from localized joint hypermobility to generalized hypermobility affecting multiple joints, causing pain, fatigue, and other associated symptoms. It is considered a diagnosis of exclusion and shares many management strategies with hEDS.

Generalized Joint Hypermobility (GJH)

Generalized Joint Hypermobility (GJH) refers simply to the presence of hypermobility in multiple joints across the body, often assessed using the Beighton Score. GJH can exist as a benign trait without any symptoms (asymptomatic GJH), or it can be the underlying physical finding in individuals with HSD or hEDS who experience symptoms. It's important to distinguish between asymptomatic hypermobility and symptomatic conditions like HSD or EDS, which require medical management.

Other Potential Causes of Joint Looseness

While EDS and HSD are the most common and significant causes of widespread joint looseness, other conditions can also contribute to joint laxity, albeit typically in a more localized or less severe manner:

• Marfan Syndrome: Another genetic connective tissue disorder, often affecting the heart, eyes, and skeleton, leading to tall stature and long limbs with joint hypermobility.
• Osteogenesis Imperfecta (Brittle Bone Disease): Primarily characterized by fragile bones, but can also involve joint hypermobility due to collagen defects.
• Down Syndrome: Individuals with Down syndrome often exhibit significant joint laxity.
• Rheumatoid Arthritis: In later stages, chronic inflammation can damage joint structures, leading to instability.
• Injury or Trauma: Ligamentous damage from sprains or dislocations can lead to chronic instability in a specific joint.
• Neurological Conditions: Certain neurological conditions can affect muscle tone and joint stability.

Symptoms and Complications Beyond Loose Joints

The impact of EDS and HSD extends far beyond just "loose joints." The systemic nature of connective tissue disorders can lead to a wide array of symptoms and complications, making them complex conditions to manage.

Musculoskeletal Issues

• Chronic Pain: Widespread and debilitating pain, often disproportionate to injury, due to joint instability, muscle spasms, and nerve compression.
• Frequent Dislocations/Subluxations: Joints can partially or fully dislocate with minimal trauma or even during normal activities.
• Osteoarthritis: Premature onset of degenerative joint disease due to chronic joint instability and wear and tear.
• Muscle Weakness and Fatigue: Muscles work harder to stabilize unstable joints, leading to chronic fatigue.
• Scoliosis and other Spinal Deformities: Ligamentous laxity can contribute to spinal instability.

Systemic Manifestations

• Autonomic Dysfunction (Dysautonomia/POTS): Problems with blood pressure regulation (Postural Orthostatic Tachycardia Syndrome - POTS), heart rate, digestion, and temperature control.
• Gastrointestinal Issues: Slow motility, reflux, abdominal pain, and gastroparesis due to lax connective tissue in the digestive tract.
• Skin Problems: Easy bruising, fragile skin, poor wound healing, abnormal scarring.
• Pelvic Floor Dysfunction: Weakness and laxity leading to incontinence or prolapse.
• Dental Issues: Crowded teeth, high arched palate, fragile gum tissue.
• Fatigue: Profound and chronic fatigue, often unrelated to activity levels.

Diagnosis and Management

Diagnosing conditions like hEDS and HSD requires a thorough clinical evaluation, as there is no single definitive test for hEDS, and HSD is a diagnosis of exclusion. Management focuses on symptom relief, preventing complications, and improving functional ability.

Diagnostic Process

• Clinical Examination: A physical assessment by a knowledgeable physician, often using the Beighton Score to quantify generalized joint hypermobility.
• Medical History: Detailed history of joint issues, pain, fatigue, and other systemic symptoms.
• Exclusion of Other Conditions: Ruling out other conditions that might cause similar symptoms (e.g., Marfan Syndrome, rheumatoid arthritis).
• Genetic Testing: For specific types of EDS where a genetic mutation has been identified (not for hEDS).

Management Strategies

Management is typically multidisciplinary, involving various healthcare professionals:

• Physical Therapy: Crucial for strengthening muscles around joints, improving proprioception (joint position sense), and teaching safe movement patterns.
• Occupational Therapy: Adapting daily activities to reduce joint stress and conserve energy.
• Pain Management: Medications, nerve blocks, and non-pharmacological approaches to manage chronic pain.
• Orthotics and Bracing: Providing external support to unstable joints.
• Medications: For specific symptoms like POTS, gastrointestinal issues, or anxiety.
• Psychological Support: Addressing the mental health impact of chronic illness.

The Role of Exercise and Physical Therapy

For individuals with joint hypermobility, exercise is a cornerstone of management, but it must be carefully tailored to avoid exacerbating symptoms or causing injury. The goal is not to increase flexibility, but to enhance stability, strength, and body awareness.

Key Principles of Exercise for Hypermobility

• Prioritize Stability Over Flexibility: Unlike traditional flexibility training, the focus is on strengthening the muscles that support and stabilize the joints, rather than stretching already lax ligaments.
• Proprioception Training: Exercises that improve the body's awareness of joint position and movement in space are vital for preventing injury.
• Low-Impact Activities: Minimize stress on joints.
• Controlled Movements: Emphasize slow, controlled movements through a safe range of motion, avoiding hyperextension or end-range joint positions.
• Core Strength: A strong core provides a stable base for limb movements, reducing stress on peripheral joints.
• Gradual Progression: Start slowly and increase intensity and duration gradually.

Exercises to Emphasize

• Strength Training: Focus on compound movements with light to moderate weights or bodyweight, ensuring proper form. Examples include squats, lunges (modified for stability), planks, rows, and presses.
• Isometric Exercises: Holding a position without movement can build strength and stability without putting joints through a full range of motion.
• Balance and Proprioception Exercises: Standing on one leg, using wobble boards (with caution and supervision), or performing tai chi.
• Low-Impact Aerobics: Swimming, cycling (stationary bike preferred), elliptical training, brisk walking.
• Pilates (Mat or Reformer): Excellent for core strength, body awareness, and controlled movement.
• Water-Based Exercises: Buoyancy reduces joint load while allowing for resistance training.

Exercises to Avoid or Modify

• Extreme Stretching: Ballistic stretching or pushing into hyperextension should be avoided.
• High-Impact Activities: Running, jumping, or contact sports can lead to joint injury.
• Weight-Bearing Exercises in Hyperextension: For example, locking out knees or elbows during squats or presses.
• Overly Dynamic or Uncontrolled Movements: Rapid, uncontrolled movements can increase the risk of subluxation or dislocation.
• Activities Requiring Extreme Flexibility: Gymnastics, ballet, or competitive yoga that emphasizes end-range flexibility.

Living with Joint Hypermobility

Living with a condition like EDS or HSD requires ongoing management and self-awareness. Patients often benefit from lifestyle adjustments, including:

• Pacing Activities: Avoiding overexertion to manage fatigue and pain.
• Ergonomic Adjustments: Modifying workspaces and daily routines to support joints.
• Supportive Footwear and Orthotics: To improve foot and ankle stability.
• Education: Understanding the condition empowers individuals to advocate for their health and make informed decisions.

When to Seek Medical Attention

If you experience persistent joint pain, frequent dislocations, unusual fatigue, or other systemic symptoms in conjunction with loose joints, it is crucial to seek evaluation from a healthcare professional knowledgeable in connective tissue disorders. Early diagnosis and appropriate management can significantly improve quality of life and prevent long-term complications.