Bendy Syndrome: Understanding Joint Hypermobility, HSD, and hEDS

What is Bendy Syndrome?

“Bendy syndrome” is a colloquial term often used to describe joint hypermobility, a condition where joints move beyond their normal range of motion. More formally, it refers to a spectrum of connective tissue disorders, primarily Hypermobility Spectrum Disorder (HSD) and Hypermobile Ehlers-Danlos Syndrome (hEDS), which are characterized by generalized joint laxity and a variety of associated symptoms.

Understanding Joint Hypermobility

Defining Joint Hypermobility: Joint hypermobility, also known as joint laxity or double-jointedness, refers to the ability of a joint to move beyond the typical physiological range of motion. This increased range is due to laxity in the connective tissues—ligaments, tendons, and joint capsules—that normally stabilize the joint. While some degree of flexibility is desirable, excessive hypermobility can lead to instability and a host of other issues.

Distinguishing Between Benign and Syndromic Hypermobility: It's crucial to understand that not all hypermobility is problematic. Many individuals are naturally "bendy" without experiencing pain or other symptoms; this is often referred to as asymptomatic or benign joint hypermobility. However, when hypermobility is accompanied by chronic pain, joint instability, fatigue, and other systemic symptoms, it may indicate a underlying connective tissue disorder.

What is "Bendy Syndrome"? A Closer Look at Hypermobility Spectrum Disorder (HSD) and Hypermobile Ehlers-Danlos Syndrome (hEDS)

The term "bendy syndrome" most accurately refers to a group of conditions where hypermobility is a central feature, particularly Hypermobility Spectrum Disorder (HSD) and Hypermobile Ehlers-Danlos Syndrome (hEDS).

Historical Context and Terminology: Historically, conditions involving widespread joint laxity and associated symptoms were often grouped under "Benign Joint Hypermobility Syndrome" (BJHS). However, medical understanding has evolved, leading to more precise classifications. The International Classification of Ehlers-Danlos Syndromes (2017) introduced the terms Hypermobility Spectrum Disorder (HSD) and Hypermobile Ehlers-Danlos Syndrome (hEDS) to better categorize these presentations.

• Hypermobility Spectrum Disorder (HSD): This diagnosis is given to individuals who experience symptomatic joint hypermobility but do not meet the stricter diagnostic criteria for hEDS or another specific connective tissue disorder. HSD encompasses a wide range of manifestations, from localized joint hypermobility to generalized hypermobility with varying degrees of associated symptoms.
• Hypermobile Ehlers-Danlos Syndrome (hEDS): This is the most common type of Ehlers-Danlos Syndrome, a group of inherited connective tissue disorders. hEDS is characterized by generalized joint hypermobility, often accompanied by widespread chronic pain, fatigue, and a range of systemic manifestations affecting various body systems beyond the musculoskeletal system. Unlike other EDS types, a specific genetic marker for hEDS has not yet been identified, making its diagnosis primarily clinical.

The Continuum: It's important to view HSD and hEDS as existing on a continuum. Both involve hypermobility and can cause significant disability. The distinction often lies in the number and severity of additional systemic features.

Causes and Underlying Mechanisms

The primary cause of "bendy syndrome" (HSD/hEDS) lies in abnormalities of connective tissue, specifically collagen.

• Collagen Dysfunction: Collagen is the most abundant protein in the body, providing strength and elasticity to skin, bones, ligaments, tendons, and blood vessels. In HSD/hEDS, there are believed to be defects in the structure or processing of collagen, leading to tissues that are more extensible and less robust than normal. This results in lax ligaments and joint capsules, allowing joints to move too far.
• Genetics: Both HSD and hEDS are highly heritable conditions, often running in families. While the specific genetic mutations for hEDS are still under investigation, it is understood to be an autosomal dominant condition, meaning a person only needs to inherit one copy of the altered gene from a parent to develop the condition.
• Other Contributing Factors: While collagen defects are central, other factors can exacerbate symptoms, including:
  • Muscle Weakness and Imbalance: Muscles may work harder or ineffectively to compensate for joint laxity.
  • Proprioceptive Deficits: Reduced awareness of body position in space can lead to clumsiness and increased injury risk.
  • Autonomic Dysregulation: Common in hEDS, affecting blood pressure, heart rate, and digestion.

Common Signs and Symptoms

The manifestations of HSD and hEDS can be diverse and affect multiple body systems.

Musculoskeletal Manifestations:

• Chronic Joint Pain: Often widespread and disproportionate to activity, fluctuating in intensity.
• Joint Instability: Frequent sprains, subluxations (partial dislocations), and full dislocations.
• Clicking, Popping, and Grinding Joints: Sounds due to joint laxity.
• Early Onset Osteoarthritis: Due to repetitive microtrauma from unstable joints.
• Muscle Weakness and Fatigue: Muscles working harder to stabilize joints.
• Poor Posture: Often due to weak core and postural muscles.
• Flat Feet (Pes Planus): Common due to lax ligaments in the feet.

Extraskeletal Manifestations (More prominent in hEDS but can occur in HSD):

• Skin Involvement: Soft, velvety, hyperextensible skin; easy bruising; poor wound healing; atrophic scars.
• Autonomic Dysfunction:
  • Postural Orthostatic Tachycardia Syndrome (POTS): Dizziness, lightheadedness, fainting, rapid heart rate upon standing.
  • Orthostatic Intolerance: Difficulty standing for long periods.
• Gastrointestinal Issues: Dysmotility, reflux, irritable bowel syndrome (IBS)-like symptoms.
• Pelvic Floor Dysfunction: Incontinence, prolapse.
• Temporomandibular Joint (TMJ) Dysfunction: Jaw pain, clicking, dislocations.
• Chronic Fatigue: Profound and debilitating, often out of proportion to activity.
• Headaches/Migraines: Frequent and often severe.
• Anxiety and Depression: Higher prevalence due to chronic pain and systemic issues.
• Dental Issues: Crowding, fragile gums.

Diagnosis and Medical Evaluation

Diagnosis of HSD and hEDS is primarily clinical, based on a comprehensive physical examination and patient history.

• Clinical Assessment:
  • Beighton Score: A nine-point scoring system used to assess generalized joint hypermobility (e.g., ability to place palms flat on the floor with knees straight, hyperextension of elbows/knees, thumb to forearm). A score of 5/9 or higher (for adults) often indicates generalized hypermobility.
  • Detailed History: Including family history, onset of symptoms, pain patterns, and presence of other systemic issues.
• Exclusion of Other Conditions: It's crucial to rule out other conditions that can cause hypermobility or similar symptoms, such as Marfan Syndrome, Loeys-Dietz Syndrome, or other forms of Ehlers-Danlos Syndrome that have specific genetic markers.
• Specialist Consultation: Diagnosis often involves a multidisciplinary team including:
  • Rheumatologists: For musculoskeletal symptoms and diagnosis.
  • Geneticists: For confirmation of other EDS types or to rule them out.
  • Other Specialists: As needed (e.g., cardiologists for POTS, gastroenterologists for GI issues).

Management and Living with "Bendy Syndrome"

There is no cure for HSD or hEDS, but management focuses on alleviating symptoms, preventing complications, and improving quality of life. A multidisciplinary approach is essential.

• Physical Therapy and Exercise: This is a cornerstone of management.
  • Focus on Stability: Strengthening the muscles surrounding unstable joints is paramount. This includes core strengthening, gluteal activation, and rotator cuff strengthening.
  • Proprioceptive Training: Exercises that improve body awareness and joint position sense (e.g., balance exercises, single-leg stands) help the body better control joint movement.
  • Low-Impact Activities: Swimming, cycling, elliptical training, and walking are often preferred as they put less stress on joints.
  • Avoidance of Hyperextension: Patients should be taught to avoid "locking" joints into hyperextended positions during daily activities and exercise.
  • Gradual Progression: Exercise intensity and volume should be increased slowly to avoid exacerbating symptoms.
  • Pain Management:
    • Non-Pharmacological: Heat/cold therapy, transcutaneous electrical nerve stimulation (TENS), massage.
    • Pharmacological: Over-the-counter pain relievers (NSAIDs), muscle relaxants, or in some cases, neuropathic pain medications.
  • Occupational Therapy: To provide adaptive strategies and tools for daily tasks, joint protection techniques, and energy conservation.
  • Lifestyle Modifications: Pacing activities, ensuring adequate rest, stress management, and maintaining a healthy weight.
  • Psychological Support: Counseling, cognitive behavioral therapy (CBT), or support groups can help manage chronic pain, anxiety, and depression.
  • Nutritional Considerations: While specific diets aren't a cure, addressing gut issues (common in hEDS) and ensuring adequate nutrition for tissue health can be beneficial.

Implications for Fitness Professionals

For fitness professionals, understanding "bendy syndrome" is crucial for safely and effectively training clients with HSD or hEDS.

• Individualized Programming: There is no one-size-fits-all approach. Each client's symptoms, pain levels, and specific joint instabilities must be considered.
• Emphasis on Control, Not Range: Prioritize strengthening muscles to create stability around joints rather than pushing for increased flexibility. Clients are already hypermobile; further stretching is often counterproductive and can be harmful.
• Proprioception and Balance Training: Incorporate exercises that challenge balance and body awareness to improve joint control and reduce injury risk.
• Low-Impact and Controlled Movements: Favor exercises that minimize impact and allow for precise, controlled movements. Avoid ballistic movements, heavy lifting that compromises form, and exercises that encourage joint hyperextension.
• Communication with Healthcare Providers: Encourage clients to communicate with their medical team. Collaboration between the fitness professional and the client's physician or physical therapist is ideal.
• Awareness of Red Flags: Be vigilant for signs of joint instability, increased pain, or systemic symptoms. Know when to modify exercises, advise rest, or recommend a consultation with a healthcare professional.
• Educate and Empower: Help clients understand their condition and how exercise can be a powerful tool for managing symptoms and improving quality of life, emphasizing consistency and patience.

Conclusion

"Bendy syndrome" is a descriptive term for a complex set of conditions, primarily Hypermobility Spectrum Disorder (HSD) and Hypermobile Ehlers-Danlos Syndrome (hEDS), characterized by excessive joint laxity and a range of associated systemic symptoms. While the ability to be "bendy" might seem advantageous, for those with HSD or hEDS, it often comes with chronic pain, instability, and widespread challenges. Proper diagnosis, a multidisciplinary approach to management focusing on stability, pain management, and tailored physical activity, are essential for individuals to navigate and improve their quality of life with these conditions. For fitness professionals, an informed and cautious approach is paramount to safely and effectively support these clients.