Understanding Hypermobility Disorders

To better comprehend hypermobility disorders, it is essential to grasp their definition and differentiate them from Ehlers-Danlos syndrome (EDS).

Definition of HSDs

Hypermobility spectrum disorders (HSDs) is the updated term for what was previously referred to as joint hypermobility syndrome (JHS). The change in nomenclature occurred in 2017 to reflect advancements in genetics and our understanding of different subtypes of EDS, excluding hypermobile EDS (hEDS).

Patients diagnosed with HSDs exhibit joint hypermobility, coupled with secondary musculoskeletal manifestations, excluding hEDS. Extra-articular manifestations commonly occur in HSDs. Treatment involves managing chronic pain syndromes, implementing lifestyle modifications, physical therapy, and judicious use of medications.

Differentiating HSDs from EDS

HSDs share joint hypermobility (JH) with other conditions, such as EDS. However, there are distinct subtypes that differentiate them. These subtypes include hypermobility spectrum disorder (H-HSD), hypermobility Ehlers-Danlos syndrome (hEDS), hypermobility spectrum disorder with hypermobile EDS-like features (HSD/hEDS), and hypermobility spectrum disorder with symptomatic joint hypermobility (HSD/JH) [1].

It is crucial to note that patients with HSD require the same validation and symptom-based management as individuals with hEDS or JHS, as they share a similar range of potential symptoms and linked conditions. There is no evidence to suggest that individuals meeting hEDS criteria are more severely affected than those diagnosed with HSD or JHS.

To aid in diagnosis, HSDs are further categorized into subtypes based on the presentation and characteristics:

• Generalized Hypermobility Spectrum Disorder (gHSD): Assessed using the Beighton score and secondary musculoskeletal manifestations.
• Peripheral Hypermobility Spectrum Disorder (pHSD): Characterized by joint hypermobility in the hands and feet, along with one or more musculoskeletal manifestations.
• Localized Hypermobility Spectrum Disorder (lHSD): Referring to a single joint or group of joints that are hypermobile, accompanied by one or more secondary musculoskeletal manifestations.
• Historical HSD (hHSD): Describing individuals with symptoms similar to gHSD but are no longer as hypermobile due to aging, injuries, or surgeries.

Understanding the definition of HSDs and distinguishing them from EDS is crucial for accurate diagnosis and appropriate management of individuals with hypermobility disorders.

Symptoms of Hypermobility Disorders

Hypermobility Spectrum Disorders (HSDs) encompass a range of conditions characterized by joint hypermobility and associated symptoms. These disorders can present with musculoskeletal symptoms as well as extra-articular manifestations [3]. Let's explore these symptoms in more detail:

Musculoskeletal Symptoms

The primary symptom of HSDs is musculoskeletal pain, which can vary in intensity from a dull ache to moderate pain that may be limited to specific activities or present constantly. Weight-bearing joints, such as the knees and hips, are often more susceptible to pain and discomfort, which can interfere with daily activities. It is important to note that morning stiffness lasting more than 30 minutes is unusual in HSDs.

In addition to pain, individuals with HSDs may experience joint problems, including joint dislocation and arthritis. These joint issues can further contribute to pain and functional limitations. Easy bruising, joint hypermobility, and problems with skin healing are also common musculoskeletal symptoms associated with HSDs.

Extra-Articular Manifestations

HSDs are not limited to musculoskeletal symptoms; they can also present with various extra-articular manifestations. These manifestations refer to symptoms that occur outside the joints. The extra-articular symptoms commonly associated with HSDs include:

• Abdominal pain: This can manifest as cramping, bloating, and changes in bowel habits, such as loose stools or constipation [3].
• Headaches: Individuals with HSDs may experience frequent headaches, which can range from mild to severe.
• Mood disturbance: Some individuals with HSDs may experience mood-related symptoms, such as anxiety or depression.
• Fatigue: Feeling tired or fatigued is a common complaint among individuals with HSDs.
• Nervous system issues: HSDs may be associated with issues such as dizziness upon standing up (orthostasis) and problems with coordination.
• Digestive system issues: Functional gastrointestinal disorders, including abdominal pain and disturbances in bowel movements, can be associated with HSDs [1].

It is important to note that the severity of symptoms can vary widely among individuals with HSDs. While some individuals may experience mild symptoms, others may be more severely affected. Proper diagnosis and management by healthcare professionals are crucial in addressing these symptoms and improving quality of life.

Understanding and recognizing the range of symptoms associated with HSDs is essential for accurate diagnosis and appropriate management. By identifying both musculoskeletal and extra-articular manifestations, healthcare professionals can provide comprehensive care and support for individuals with HSDs.

Diagnosis and Subtypes

Hypermobility Spectrum Disorder (HSD) encompasses a range of symptoms and presentations, and it is important to understand the different subtypes within this spectrum. These subtypes include Generalised Hypermobility Spectrum Disorder (gHSD), Peripheral Hypermobility Spectrum Disorder (pHSD), and Localised Hypermobility Spectrum Disorder (lHSD).

Generalised Hypermobility Spectrum Disorder (gHSD)

Generalised Hypermobility Spectrum Disorder is assessed using the Beighton score, which evaluates joint hypermobility in various parts of the body, and the presence of secondary musculoskeletal manifestations. The Beighton score ranges from 0 to 9, with a higher score indicating greater joint hypermobility. In addition to joint hypermobility, individuals with gHSD may experience a variety of secondary musculoskeletal manifestations.

Peripheral Hypermobility Spectrum Disorder (pHSD)

Peripheral Hypermobility Spectrum Disorder is characterised by joint hypermobility primarily affecting the hands and feet, along with the presence of one or more musculoskeletal manifestations. The musculoskeletal manifestations can include pain, musculoskeletal/soft tissue trauma, disturbed proprioception, and other musculoskeletal/orthopaedic traits that may be related to interactions between softer tissues and mechanical forces during growth.

Localised Hypermobility Spectrum Disorder (lHSD)

Localised Hypermobility Spectrum Disorder refers to the hypermobility of a single joint or a group of joints accompanied by one or more secondary musculoskeletal manifestations. This subtype focuses on a specific area of hypermobility and the associated musculoskeletal symptoms.

It's worth noting that individuals with historical HSD (hHSD) exhibit symptoms similar to gHSD but are no longer as hypermobile due to factors such as aging, injuries, or surgeries [2]. Although hHSD is not a distinct subtype, understanding this category helps recognize the impact of time and external factors on hypermobility symptoms.

By understanding the different subtypes of Hypermobility Spectrum Disorder, healthcare professionals can better diagnose and manage the condition. It is important to note that the symptoms and manifestations may overlap among these subtypes, and individuals may move between subtypes over time. Each individual's experience with HSD is unique, and a comprehensive evaluation by a healthcare professional can lead to an accurate diagnosis and appropriate management strategies.

Management Strategies

When it comes to managing hypermobility spectrum disorder (HSD), a combination of strategies can help individuals effectively cope with their symptoms. Two key management strategies for HSD include exercise and physical therapy, as well as medications and pain management.

Exercise and Physical Therapy

Exercise and physical therapy play a crucial role in managing HSD symptoms. Engaging in regular exercise helps to strengthen muscles, improve joint stability, and enhance overall physical function. It is important, however, to choose exercises that are suitable for individuals with hypermobility spectrum disorders.

Tai chi, a form of exercise that involves slow, controlled movements, can be particularly beneficial for individuals with HSD. It helps reduce the risk of falls and can alleviate pain associated with hypermobility spectrum disorders [3]. Other low-impact exercises such as swimming or cycling may also be beneficial.

Physical therapy can provide a structured approach to strengthening muscles, improving joint stability, and enhancing body mechanics. A physical therapist can develop an individualized exercise program tailored to the specific needs and limitations of someone with HSD. This may include exercises to improve muscle strength, flexibility, and proprioception.

Medications and Pain Management

Medications and pain management techniques can help individuals with HSD effectively manage their symptoms. Over-the-counter pain relievers such as acetaminophen and ibuprofen may be helpful in alleviating pain associated with hypermobility spectrum disorders. However, it's important to consult with a healthcare professional before starting any medication regimen.

In addition to medications, lifestyle modifications can also contribute to pain management. Adequate hydration, support stockings, and practicing caution when transitioning from sitting or lying positions can help alleviate fainting or lightheadedness.

For individuals with hypermobile Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorders, relaxation techniques such as meditation, massage, and cognitive-behavioral therapy can be beneficial in managing pain and reducing stress. These techniques can help individuals develop coping mechanisms and improve overall well-being.

When managing HSD, it's important to work closely with healthcare professionals to develop an individualized management plan. This may involve a multidisciplinary approach, incorporating lifestyle modifications, exercise, physical therapy, medications, and pain management techniques. By combining these strategies, individuals with HSD can effectively manage their symptoms and improve their quality of life.

Lifestyle Modifications

When it comes to managing hypermobility spectrum disorder symptoms, lifestyle modifications can play a crucial role in improving quality of life. By incorporating certain practices and therapies into daily routines, individuals with hypermobility spectrum disorders can better cope with their symptoms and enhance overall well-being. Two key lifestyle modifications that have shown promise in managing hypermobility spectrum disorder symptoms are Tai Chi and relaxation techniques combined with cognitive behavior therapy.

Tai Chi and Fall Prevention

For individuals with hypermobility spectrum disorders, exercises like Tai Chi can be beneficial in reducing falls and decreasing pain. Tai Chi is a low-impact exercise that involves slow, controlled movements and focuses on improving balance, flexibility, and muscle strength. By practicing Tai Chi regularly, individuals with hypermobility spectrum disorders can improve their proprioception and stability, reducing the risk of falls and injuries.

Tai Chi not only provides physical benefits but also promotes relaxation and mindfulness. It can help individuals manage stress and anxiety, which are common challenges associated with hypermobility spectrum disorders. By incorporating Tai Chi into their routine, individuals can experience improved physical and mental well-being.

Relaxation Techniques and Cognitive Behavior Therapy

Relaxation techniques, meditation, massage, and cognitive behavior therapy are recommended for managing pain and stress associated with hypermobile Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorders. These techniques aim to reduce muscle tension, promote relaxation, and enhance coping mechanisms.

Relaxation techniques, such as deep breathing exercises, progressive muscle relaxation, and guided imagery, can help individuals with hypermobility spectrum disorders manage pain and reduce stress levels. These techniques can be practiced independently or with the guidance of a trained professional.

Cognitive behavior therapy (CBT) is a form of therapy that focuses on identifying and changing negative patterns of thinking and behavior. It can help individuals with hypermobility spectrum disorders develop effective coping strategies, manage pain, and improve overall mental well-being. CBT can be particularly beneficial in addressing the emotional and psychological aspects of living with a chronic condition.

By incorporating relaxation techniques and cognitive behavior therapy into their daily lives, individuals with hypermobility spectrum disorders can better manage their symptoms, reduce pain and stress, and improve their overall quality of life.

It's important to note that lifestyle modifications should be implemented in conjunction with a comprehensive management plan, which may include other interventions such as medication, physical therapy, and mental health support. Each individual's experience with hypermobility spectrum disorders is unique, and it's essential to consult with healthcare professionals to determine the most suitable lifestyle modifications for optimal symptom management.

Challenges and Coping

Living with a hypermobility spectrum disorder (HSD) can present daily challenges for individuals. Depending on the severity of their symptoms, these challenges can impact various aspects of their lives, including home, work, and relationships with others. However, with proper support and coping mechanisms in place, individuals can navigate these challenges and improve their quality of life.

Daily Challenges

Individuals with HSDs often experience musculoskeletal pain as a primary symptom. This pain can range from a dull ache to moderate pain that may be limited to certain activities or present constantly. Weight-bearing joints are often more affected, which can interfere with daily activities. It is important to note that morning stiffness lasting more than 30 minutes is unusual.

In addition to musculoskeletal symptoms, extra-articular manifestations may occur in some individuals with HSDs. These can include symptoms such as abdominal pain, headaches, and mood disturbance. These challenges can impact an individual's ability to carry out their daily routines and tasks.

Support and Coping Mechanisms

When facing the challenges of living with HSDs, having a strong support system is crucial. This can include family, friends, healthcare professionals, and support groups. Connecting with others who share similar experiences can provide emotional support, understanding, and valuable insights.

In addition to support from others, implementing coping mechanisms can help individuals manage their condition more effectively. Some strategies that may be beneficial include:

• Physical and Occupational Therapy: Working with physical and occupational therapists can help individuals with HSDs learn techniques to manage pain, improve joint stability, and enhance mobility. These professionals can provide tailored exercise programs and assistive devices to support daily activities.
• Psychological Support: Seeking psychological support, such as counseling or therapy, can be beneficial for individuals dealing with the emotional impact of living with a chronic condition. This support can help individuals develop coping strategies, manage stress, and address any mental health concerns that may arise.
• Self-Management: Educating oneself about HSDs and learning self-management techniques can empower individuals to take an active role in their own care. This can involve understanding their limitations, pacing activities, practicing good posture, and implementing joint protection strategies.

By combining these support systems and coping mechanisms, individuals with HSDs can better navigate the challenges they face on a daily basis. It is important to work closely with healthcare professionals to develop an individualized management plan that addresses the unique needs of each person.

References

[1]: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10457547/‍

[2]: https://www.hypermobility.org/hsddiagnostic-criteria

‍[3]: https://www.aafp.org/pubs/afp/issues/2021/0415/p481-s1.html

‍[4]: https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/diagnosis-treatment/drc-20362149

‍[5]: https://patient.info/doctor/hypermobility-syndrome-pro

‍[6]: https://www.aafp.org/pubs/afp/issues/2021/0415/p481.html