Hypermobility Spectrum Disorder (HSD): Symptoms, Diagnosis, and Management

How do I know if I have HSD?

Identifying Hypermobility Spectrum Disorder (HSD) involves recognizing a combination of generalized joint hypermobility and associated symptoms, often beginning with self-assessment of joint laxity but requiring professional medical evaluation for a definitive diagnosis.

Understanding Hypermobility Spectrum Disorder (HSD)

Hypermobility Spectrum Disorder (HSD) is a condition characterized by joint hypermobility (joints that move beyond the normal range of motion) coupled with various associated symptoms. It's important to distinguish HSD from Hypermobile Ehlers-Danlos Syndrome (hEDS), which is a specific genetic connective tissue disorder with defined diagnostic criteria that include a specific set of systemic manifestations beyond just joint hypermobility. While both involve joint laxity, HSD is diagnosed when a person experiences symptomatic hypermobility but doesn't meet the full criteria for hEDS or another specific connective tissue disorder.

Joint hypermobility itself is relatively common, especially in children and adolescents, and is often asymptomatic. However, when joint hypermobility leads to symptoms such as chronic pain, fatigue, or frequent injuries, it falls under the umbrella of HSD.

Common Signs and Symptoms of HSD

Recognizing HSD goes beyond simply being "double-jointed." It involves a constellation of signs and symptoms that can significantly impact daily life.

• Joint Pain: This is the most common and often debilitating symptom. Pain can be chronic, widespread, or localized to specific hypermobile joints. It often worsens with activity and can be due to joint instability, muscle overuse, or nerve irritation.
• Fatigue: Persistent and often debilitating fatigue is a frequently reported symptom, not always proportional to activity levels.
• Frequent Sprains, Strains, and Dislocations/Subluxations: Due to lax ligaments and unstable joints, individuals with HSD are prone to these injuries, even from minor movements.
• Clicking, Popping, or Grinding Joints: These sounds can occur with movement due to joint instability.
• Proprioception Issues: A reduced awareness of body position in space can lead to clumsiness, poor coordination, and increased risk of falls.
• Muscle Weakness and Imbalance: Muscles may work harder to stabilize hypermobile joints, leading to overuse, tension, and weakness in supporting musculature.
• Autonomic Dysfunction (Dysautonomia): Symptoms can include:
  • Postural Orthostatic Tachycardia Syndrome (POTS): Dizziness, lightheadedness, rapid heart rate upon standing.
  • Orthostatic Hypotension: Drop in blood pressure upon standing.
  • Temperature Dysregulation: Difficulty regulating body temperature.
• Gastrointestinal Issues: Common problems include irritable bowel syndrome (IBS)-like symptoms, constipation, bloating, and delayed gastric emptying.
• Skin and Tissue Manifestations (less severe than hEDS): While not as pronounced as in hEDS, individuals with HSD might exhibit soft, velvety skin, easy bruising, or mild stretch marks.
• Pelvic Floor Dysfunction: Can lead to incontinence or pelvic pain.
• Anxiety and Depression: The chronic nature of pain and other symptoms can significantly impact mental health.

The Beighton Score: A Screening Tool

The Beighton Score is a widely used, simple clinical tool to assess generalized joint hypermobility. It evaluates nine specific points of joint range of motion. It's important to understand that a high Beighton Score indicates generalized joint hypermobility, but it is not diagnostic of HSD on its own. It's merely one component of the assessment.

The nine points are:

1. Passive dorsiflexion of the 5th metacarpophalangeal joint to 90 degrees or beyond (right and left hand - 2 points).
2. Passive apposition of the thumb to the forearm (right and left hand - 2 points).
3. Hyperextension of the elbow beyond 10 degrees (right and left arm - 2 points).
4. Hyperextension of the knee beyond 10 degrees (right and left leg - 2 points).
5. Placing the palms flat on the floor with knees straight (1 point).

A score of 4 or more (for adults) is generally considered indicative of generalized joint hypermobility. However, interpretation varies with age, as hypermobility decreases with age.

Beyond the Beighton Score: Comprehensive Assessment

While the Beighton Score can indicate hypermobility, diagnosing HSD requires a more comprehensive clinical assessment by a healthcare professional, such as a rheumatologist, geneticist, or a physician experienced in connective tissue disorders.

The diagnostic process typically involves:

• Detailed Medical History: A thorough review of your symptoms, their onset, severity, and impact on daily life. This includes a history of joint pain, dislocations, fatigue, digestive issues, and any family history of hypermobility or connective tissue disorders.
• Physical Examination: Beyond the Beighton Score, the clinician will assess other joints, muscle strength, proprioception, and look for other physical signs.
• Exclusion of Other Conditions: A crucial step is to rule out other conditions that can cause similar symptoms, particularly other types of Ehlers-Danlos Syndromes (especially hEDS) and other rheumatic or neurological conditions. This might involve genetic testing in some cases to exclude specific EDS types, though there is no specific genetic test for HSD or hEDS currently.
• Consideration of Systemic Symptoms: The diagnosis of HSD relies heavily on the presence of symptomatic hypermobility and associated systemic manifestations (like chronic pain, fatigue, dysautonomia, or gastrointestinal issues) that cannot be explained by another condition.

When to Seek Professional Guidance

If you suspect you have HSD based on persistent joint pain, frequent injuries, significant fatigue, or other systemic symptoms, it is crucial to seek evaluation from a healthcare professional. An accurate diagnosis is essential for:

• Effective Management: Understanding the underlying cause of your symptoms allows for targeted treatment strategies, including physical therapy, pain management, and addressing co-occurring conditions.
• Preventing Further Injury: Proper diagnosis helps in tailoring exercise and activity recommendations to minimize joint stress and prevent dislocations.
• Improving Quality of Life: A diagnosis can validate your experiences and open doors to appropriate support and resources.

Implications for Exercise and Management

For individuals with HSD, exercise is not only safe but highly beneficial, provided it is approached thoughtfully and often with professional guidance from a physical therapist knowledgeable in hypermobility. The focus shifts from increasing flexibility to enhancing stability and strength.

Key principles for exercise and management include:

• Prioritize Stability and Strength: Focus on strengthening the muscles surrounding hypermobile joints to provide active stability. This includes core stability, gluteal strength, and scapular stabilization.
• Enhance Proprioception: Exercises that challenge balance and body awareness can improve joint position sense, reducing the risk of injury.
• Low-Impact Activities: Activities like swimming, cycling, elliptical training, and walking are often preferred over high-impact or contact sports that can stress joints.
• Controlled, Mindful Movements: Avoid end-range joint movements and focus on controlled, precise execution of exercises. Quality over quantity.
• Avoid Overstretching: While it might feel natural to stretch hypermobile joints, this can exacerbate instability. Focus on maintaining functional range of motion rather than increasing it.
• Pacing and Energy Conservation: Manage activity levels to prevent post-exertional fatigue and pain flares.
• Professional Guidance: Working with a physical therapist experienced in hypermobility is highly recommended to develop a safe and effective exercise program tailored to your specific needs and hypermobile joints.

Key Takeaways

Identifying HSD involves more than just flexible joints; it requires recognizing a pattern of symptomatic hypermobility coupled with various associated systemic issues. While the Beighton Score can indicate generalized joint laxity, a definitive diagnosis of HSD necessitates a comprehensive medical evaluation by a qualified healthcare professional who can assess your full symptom profile and rule out other conditions. Early diagnosis and appropriate management, particularly through targeted strength and stability training, are crucial for managing symptoms and improving long-term quality of life.