Hypermobility Syndrome: Understanding HSD, hEDS, and Associated Symptoms

What is the name of the Hyperlaxity syndrome?

The term "hyperlaxity syndrome" is commonly used to describe excessive joint flexibility, but medically, it is more precisely referred to as Hypermobility Spectrum Disorder (HSD) or, in its benign form, Benign Joint Hypermobility Syndrome (BJHS), often existing on a spectrum with various types of Ehlers-Danlos Syndrome (EDS).

Understanding Joint Hypermobility

Joint hypermobility refers to the ability of a joint to move beyond its normal anatomical range of motion. While some degree of flexibility is desirable, excessive hypermobility, particularly when accompanied by symptoms, warrants clinical attention. This condition is rooted in the connective tissues, primarily collagen, which provides structure and elasticity to joints, ligaments, tendons, and other body tissues. When collagen is more elastic or less robust than typical, joints can become overly mobile.

It's important to distinguish between asymptomatic joint hypermobility (often seen in athletes like gymnasts or dancers, or simply as a genetic trait) and symptomatic hypermobility, which is associated with pain, instability, and other health issues. When symptoms arise, it transitions from a "trait" to a "condition" or "syndrome."

The Official Terminology: From Benign to Spectrum

The terminology surrounding hypermobility has evolved significantly over time to better categorize and manage the diverse presentations of this condition.

• Benign Joint Hypermobility Syndrome (BJHS): Historically, this term was used for individuals experiencing musculoskeletal symptoms (like joint pain, dislocations, or subluxations) due to generalized joint hypermobility, but without the broader systemic features characteristic of more complex connective tissue disorders. Diagnosis often involved the Beighton Score, a simple 9-point scale assessing hypermobility in specific joints. While "benign" suggested a less severe prognosis, many individuals experienced significant pain and disability. This term is now largely superseded by HSD.
• Hypermobility Spectrum Disorder (HSD): Introduced in 2017 by The International Consortium on Ehlers-Danlos Syndromes and Related Disorders, HSD is the current preferred umbrella term. It encompasses symptomatic hypermobility that does not meet the strict diagnostic criteria for a specific Ehlers-Danlos Syndrome (EDS) or other named connective tissue disorders (e.g., Marfan Syndrome, Loeys-Dietz Syndrome). HSD acknowledges a broad "spectrum" of hypermobility-related conditions, varying in severity and specific symptoms, allowing for more individualized diagnosis and management. It can be localized (affecting only a few joints), peripheral (hands/feet), articular (specific large joints), or generalized.
• Ehlers-Danlos Syndrome (EDS): This is a group of heritable connective tissue disorders. While there are multiple types of EDS, Hypermobile Ehlers-Danlos Syndrome (hEDS) is the most common and is characterized by generalized joint hypermobility alongside a specific set of additional systemic manifestations (e.g., skin hyperextensibility, tissue fragility, abnormal scarring, chronic pain, autonomic dysfunction, gastrointestinal issues). Distinguishing between hEDS and HSD is crucial, as hEDS has more defined diagnostic criteria and often a broader range of systemic involvement. HSD and hEDS are distinct diagnoses but exist on a continuum of hypermobility-related conditions.

Beyond Joint Flexibility: Associated Symptoms

While joint instability and pain are hallmark symptoms, hypermobility syndromes, particularly HSD and hEDS, can manifest in various other ways due to the widespread nature of connective tissue in the body. These can include:

• Chronic Pain: Musculoskeletal pain is very common, often disproportionate to visible joint damage.
• Fatigue: Profound and debilitating fatigue is a frequent complaint.
• Proprioceptive Dysfunction: Impaired joint position sense, leading to clumsiness, poor balance, and increased risk of injury.
• Autonomic Dysfunction (Dysautonomia): Manifestations like Postural Orthostatic Tachycardia Syndrome (POTS), characterized by dizziness, lightheadedness, and rapid heart rate upon standing.
• Gastrointestinal Issues: Dysmotility, bloating, reflux, and irritable bowel syndrome-like symptoms.
• Skin Abnormalities: Soft, velvety skin, easy bruising, or delayed wound healing (more pronounced in EDS).
• Pelvic Floor Dysfunction: Incontinence or pelvic pain.
• Anxiety and Depression: Higher prevalence due to chronic pain and systemic symptoms.

Diagnosis and Assessment

Diagnosis of hypermobility syndromes is primarily clinical. It involves a thorough physical examination, including the Beighton Score to assess generalized joint hypermobility. Beyond this, a detailed medical history is crucial to identify associated symptoms and rule out other conditions. Genetic testing is typically not helpful for HSD or hEDS, as the specific genetic markers for these conditions are still largely unknown.

Exercise Science and Kinesiology: Management Strategies

For individuals with symptomatic hypermobility, the focus of physical activity and rehabilitation shifts dramatically from conventional approaches. The goal is not to improve flexibility, which is already excessive, but to enhance stability, strength, and proprioception.

• Prioritize Stability Over Flexibility: Unlike the general population, hypermobile individuals should avoid stretching into their end ranges of motion. The emphasis is on controlled, stable movement.
• Strength Training: Building strong muscles around hypermobile joints is paramount. This creates a "muscular corset" that provides extrinsic stability.
  • Focus on Low-Load, High-Repetition: Start with lighter weights and higher repetitions to build muscular endurance and control.
  • Eccentric Control: Emphasize the lengthening phase of muscle contractions (e.g., slowly lowering a bicep curl) to improve joint deceleration and control.
  • Isometric Holds: Holding positions (e.g., plank, wall sit) builds static strength and endurance, enhancing stability.
  • Compound Movements (Controlled): Exercises like squats, deadlifts, and presses, performed with strict form and limited range of motion, can build global strength.
• Proprioceptive Training: Enhancing joint awareness is critical to prevent injuries.
  • Balance Exercises: Single-leg stands, tandem walking, unstable surface training (e.g., wobble boards, foam pads) help retrain the nervous system.
  • Closed-Chain Exercises: Movements where the distal segment is fixed (e.g., squats, push-ups) often provide more sensory feedback and stability.
• Core Stability: A strong core is fundamental for supporting the spine and pelvis, which are often unstable in hypermobile individuals. Planks, bird-dogs, and controlled abdominal exercises are beneficial.
• Low-Impact Activities: Swimming, cycling, and elliptical training are excellent choices as they minimize joint impact while providing cardiovascular benefits.
• Conscious Movement Patterns: Learning to avoid hyperextension in daily activities (e.g., standing with "locked" knees, hyperextending elbows during push-ups) is vital.
• Gradual Progression: Overexertion can lead to flares of pain and fatigue. Progress should be slow, mindful, and individualized.
• Pain Management Integration: Exercise programs should be designed in conjunction with pain management strategies, often involving physical therapists experienced in hypermobility.

When to Seek Professional Guidance

If you experience persistent joint pain, frequent dislocations or subluxations, chronic fatigue, or other systemic symptoms alongside joint hypermobility, it is crucial to consult with a healthcare professional. A rheumatologist, geneticist, or a physician knowledgeable in connective tissue disorders can provide an accurate diagnosis. Working with a physical therapist specializing in hypermobility is highly recommended to develop a safe and effective exercise program tailored to your specific needs.

Conclusion

The term "hyperlaxity syndrome" is a broad descriptor for a complex set of conditions now more accurately categorized as Hypermobility Spectrum Disorder (HSD) or Hypermobile Ehlers-Danlos Syndrome (hEDS). Understanding these distinctions is crucial for proper diagnosis and effective management. While challenging, with an informed approach grounded in exercise science, focusing on stability, strength, and proprioception, individuals with hypermobility can significantly improve their quality of life and reduce the impact of their symptoms.