Hypermobility Spectrum Disorder Vs EDS Demystified

Understanding Hypermobility Conditions

Hypermobility conditions encompass a range of disorders characterized by joint hypermobility and associated symptoms. Two common hypermobility conditions are Ehlers-Danlos syndrome (EDS) and Hypermobility Spectrum Disorder (HSD). Understanding the differences between these conditions and their prevalence is essential for accurate diagnosis and treatment.

Differentiating EDS and HSD

In 2017, the term "hypermobility spectrum disorders" was introduced to differentiate between EDS and HSD. Individuals who meet the clinical criteria for hypermobile EDS receive an hEDS diagnosis, while those who have symptomatic hypermobility but do not meet the criteria are diagnosed with HSD [1].

Although there is a diagnostic distinction between HSD and hEDS, it may not be clinically meaningful. Both groups can experience similar physical and mental impairments and potential functional limitations. It's important to note that individuals with HSD may still face challenges and require appropriate management and support.

Prevalence and Diagnosis

The prevalence of hypermobile EDS and hypermobility spectrum disorders is estimated based on studies in national or patient registries. The combined prevalence of these conditions is expected to be lower than the prevalence of all EDS and joint hypermobility syndrome codes combined, which ranges from 0.13% to 0.19%.

Diagnosing hypermobile EDS is based on clinical criteria established in 2017 by the International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. The diagnosis is primarily clinical, as no specific genetic etiology has been identified for hEDS. Molecular genetic testing cannot be used to establish the diagnosis [3].

Accurate diagnosis of hypermobility conditions is crucial for appropriate management and treatment. The recognition of symptoms and understanding the differences between EDS and HSD play a significant role in providing individuals with the necessary support and care they need.

Clinical Features and Symptoms

When it comes to hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndrome (EDS), understanding the clinical features and symptoms is essential for diagnosis and management. Both conditions are characterized by joint hypermobility and can present with various extra-articular symptoms.

Joint Hypermobility and Pain

Joint hypermobility is a key clinical feature observed in individuals with both HSD and EDS. It refers to an increased range of motion in the joints beyond what is considered normal. This hypermobility can affect multiple joints throughout the body, including the fingers, wrists, elbows, shoulders, hips, knees, and ankles.

However, joint hypermobility alone does not necessarily cause pain. Some individuals with hypermobility may not experience any discomfort, while others may develop joint pain and stiffness. The exact cause of pain in hypermobility conditions is not fully understood, but it is thought to be related to ligament laxity and increased joint stress.

Extra-Articular Symptoms

In addition to joint hypermobility and pain, individuals with HSD and EDS may also experience various extra-articular symptoms. These symptoms can affect multiple organ systems and have a significant impact on daily life. Some of the commonly reported extra-articular symptoms include:

• Anxiety disorders: Anxiety disorders, such as generalized anxiety disorder and social anxiety, are frequently observed in individuals with HSD and EDS. The relationship between anxiety and hypermobility conditions is complex and may be influenced by genetic, environmental, and psychological factors.
• Chronic pain: Chronic pain is a common symptom experienced by individuals with HSD and EDS. It can manifest as musculoskeletal pain, headaches, or abdominal pain. The exact mechanisms underlying chronic pain in hypermobility conditions are not fully understood, but they are believed to involve a combination of factors, including joint instability, tissue fragility, and altered pain perception.
• Fatigue: Fatigue is a prevalent symptom in individuals with HSD and EDS. It is often described as a persistent feeling of tiredness and lack of energy that is not relieved by rest. Fatigue can significantly impact daily functioning and quality of life.
• Orthostatic intolerance: Orthostatic intolerance refers to symptoms that occur when standing upright and improve when lying down. It can manifest as dizziness, lightheadedness, fainting, or palpitations. Orthostatic intolerance is thought to be related to autonomic dysfunction commonly seen in hypermobility conditions.
• Functional gastrointestinal disorders: Gastrointestinal symptoms, such as abdominal pain, bloating, and altered bowel habits, are frequently reported by individuals with HSD and EDS. These symptoms may be indicative of functional gastrointestinal disorders, which are characterized by abnormal gut function in the absence of structural abnormalities.
• Pelvic and bladder dysfunction: Pelvic floor dysfunction and bladder dysfunction are additional extra-articular symptoms that can occur in individuals with hypermobility conditions. These symptoms may manifest as urinary urgency, frequency, or incontinence, as well as pelvic pain or discomfort.

It's important to note that the severity and combination of symptoms can vary widely among individuals with HSD and EDS. If you or someone you know is experiencing these symptoms, it is recommended to consult with a healthcare professional for proper diagnosis and management.

To learn more about the challenges in diagnosing hypermobility conditions and the impact they have on daily life, continue reading our article on hypermobility spectrum disorder vs EDS.

Management and Treatment

When it comes to managing and treating hypermobility spectrum disorder (HSD) and Ehlers-Danlos syndrome (EDS), the central goals of therapy are to manage symptoms, prevent joint injury, and educate patients about their condition. Treatment strategies for these conditions involve a multidisciplinary approach that addresses the various manifestations and challenges associated with these disorders.

Therapeutic Goals

The primary therapeutic goals for individuals with HSD and EDS revolve around improving quality of life, reducing pain, and enhancing functional ability. The key objectives of treatment include:

• Managing and alleviating pain: Pain management is tailored to the specific causes and symptoms experienced by each individual. This may involve a combination of medications, physical therapy, and alternative pain management techniques.
• Improving joint stability: Exercises that focus on increasing core and extremity muscle strength, proprioception, and joint stability are often recommended. These exercises aim to enhance joint alignment and control, reducing the risk of subluxation or dislocation.
• Addressing other manifestations: Depending on the specific type of EDS, additional therapies may be recommended to manage manifestations related to gastrointestinal, cardiovascular, ocular, neurologic, and urogynecologic issues. Treatment plans are tailored to the individual's needs and may involve a combination of medical interventions, therapies, and lifestyle modifications.

Treatment Strategies

The treatment strategies for HSD and EDS encompass a range of interventions aimed at improving symptoms and enhancing overall well-being. These strategies may include:

• Patient education: Educating individuals about their condition is essential for self-management and understanding the best practices for maintaining joint health and managing symptoms. This education may involve providing information about lifestyle modifications, joint protection techniques, and strategies for coping with pain.
• Physical and occupational therapy: Physical and occupational therapy play crucial roles in managing HSD and EDS. Therapists can develop personalized exercise programs to strengthen muscles, improve joint stability, and enhance functional ability. They may also provide recommendations for assistive devices, braces, or splints to improve alignment and control.
• Psychological support: Living with HSD or EDS can have a significant impact on an individual's mental well-being. Therefore, psychological support is an important aspect of treatment. Counseling or therapy can help individuals cope with the challenges and emotional aspects associated with these conditions.
• Self-management: Empowering individuals with HSD or EDS to actively participate in their own care is essential. Self-management techniques, such as pacing activities, learning joint protection strategies, and practicing stress management, can help individuals take control of their condition and improve their overall quality of life.

It's important to note that treatment plans should be tailored to the individual's specific needs and manifestations. Working closely with healthcare professionals who specialize in these conditions can ensure that the management and treatment strategies are personalized and effective.

Patients with HSD or EDS may experience challenges in establishing a correct diagnosis and receiving appropriate management. The average time to diagnosis can be significant, often taking 11-12 years. It is crucial for individuals to seek out healthcare providers who are knowledgeable about these conditions to receive accurate diagnoses and suitable interventions. This can help minimize distress, isolation, and inappropriate treatments [1].

By following a comprehensive treatment plan that addresses the specific symptoms and challenges associated with HSD or EDS, individuals can work towards managing their condition effectively and improving their overall quality of life.

Challenges in Diagnosis

When it comes to hypermobility conditions like Hypermobility Spectrum Disorder (HSD) and Ehlers-Danlos Syndrome (EDS), there are significant challenges in diagnosing these conditions accurately. These challenges can result in delayed diagnosis and misdiagnosis, leading to prolonged physical and emotional distress for individuals.

Delayed Diagnosis

According to studies, there is an average delay of 11 to 12 years in establishing a correct diagnosis for patients with EDS/HSD [1]. This delay can be attributed to various factors, including a lack of awareness and understanding of these conditions among healthcare professionals. Additionally, the symptoms of EDS/HSD can often overlap with other conditions, leading to diagnostic confusion.

The delayed diagnosis can have a significant impact on individuals' lives. It can result in prolonged pain and discomfort, as well as a sense of frustration and confusion. During this time, individuals may undergo unnecessary treatments or interventions that do not address the underlying hypermobility condition, further exacerbating their symptoms.

To expedite the diagnosis process, it's important for individuals experiencing symptoms to seek medical attention from healthcare professionals familiar with hypermobility conditions.

Misdiagnosis

In addition to delayed diagnosis, individuals with EDS/HSD commonly report receiving incorrect or incomplete diagnoses. The symptoms of EDS/HSD can be diverse and affect multiple body systems, making it challenging for healthcare professionals to recognize and differentiate these conditions from other disorders.

Misdiagnosis can lead to inappropriate interventions and treatments that do not address the underlying hypermobility condition. This can result in prolonged suffering and frustration for individuals, as well as a sense of isolation and distress. To avoid misdiagnosis, it is crucial for healthcare professionals to have a comprehensive understanding of hypermobility conditions and their clinical features.

To improve the diagnostic process, individuals with symptoms of hypermobility should seek out healthcare professionals who specialize in these conditions. Working with knowledgeable and experienced professionals can increase the likelihood of accurate diagnosis and appropriate management strategies.

By addressing the challenges of delayed diagnosis and misdiagnosis, individuals with hypermobility conditions like HSD and EDS can receive timely and appropriate care. Increased awareness among healthcare professionals, along with improved access to specialized diagnostic services, can help reduce the burden on individuals and improve their overall well-being.

Impact on Daily Life

Living with hypermobility spectrum disorder (HSD) or Ehlers-Danlos syndrome (EDS) can have a significant impact on daily life. These conditions often involve the involvement of various organ systems and can lead to functional limitations.

Organ System Involvement

Patients with EDS and HSD often experience multisystem manifestations, affecting virtually every organ system in the body. The impact of these conditions can be far-reaching and diverse. Some of the commonly affected organ systems include:

• Musculoskeletal System: Joint hypermobility is a hallmark of these conditions, leading to increased joint mobility and potential joint instability. This can result in chronic pain, joint dislocations, and musculoskeletal complications.
• Skin and Connective Tissues: Skin hyperextensibility and tissue fragility are common features. The skin may be stretchy and prone to bruising or tearing, leading to delayed wound healing and the formation of abnormal scars.
• Gastrointestinal System: Gastrointestinal dysmotility is frequently reported, leading to symptoms such as abdominal pain, bloating, constipation, and diarrhea. These symptoms can significantly impact the quality of life.
• Nervous System: Cranial and spinal neurologic complications can occur in patients with EDS and HSD. These may include headaches, dizziness, neuropathic pain, and other neurological symptoms.
• Cardiovascular System: Some individuals with EDS and HSD may experience cardiovascular issues, such as mitral valve prolapse or autonomic dysfunction.
• Respiratory System: Respiratory complications, such as asthma or recurrent lung infections, may occur in some individuals.
• Immune System: Immune dysfunction has been reported in patients with EDS and HSD, leading to increased susceptibility to infections.

Functional Limitations

The impact of EDS and HSD on daily life extends beyond organ system involvement. Functional limitations can significantly affect an individual's ability to perform daily activities. Some common functional limitations associated with these conditions include:

• Chronic Pain: Chronic pain is a prevalent symptom in individuals with EDS and HSD. It can be widespread and persistent, affecting mobility, sleep, and overall well-being.
• Fatigue: Fatigue is a common complaint among individuals with these conditions. It can be debilitating and make it challenging to engage in daily activities.
• Cognitive Dysfunction: Many patients with EDS and HSD experience cognitive dysfunction, including difficulties with memory, concentration, and executive functioning. These cognitive challenges can impact academic and occupational performance.
• Dysautonomia: Dysautonomia refers to the dysfunction of the autonomic nervous system, which regulates vital bodily functions. Symptoms can include lightheadedness, rapid heart rate, low blood pressure, and gastrointestinal disturbances.
• Limited Mobility: Joint hypermobility and associated complications can lead to limited mobility and difficulties with physical activities, impacting independence and overall quality of life.
• Psychological Impact: Living with EDS and HSD can take a toll on mental health. The challenges and uncertainties associated with these conditions can lead to anxiety, depression, and emotional distress.

Managing the impact of EDS and HSD on daily life requires a comprehensive approach that addresses the physical, emotional, and psychological aspects of these conditions. Seeking appropriate medical care, developing coping strategies, and accessing support from healthcare professionals and support groups can help individuals navigate the challenges they face.

Patient Experience and Support

Living with a hypermobility condition such as EDS or HSD can present unique challenges for individuals. It's important to understand the diagnosis challenges and the psychological impact that these conditions can have.

Diagnosis Challenges

One of the significant challenges faced by individuals with EDS and HSD is the difficulty in establishing a correct diagnosis. Studies have shown that there is an average delay of 11-12 years in reaching a proper diagnosis. This prolonged period of uncertainty can be frustrating and overwhelming for patients and their families.

Patients with EDS and HSD often report receiving incorrect or incomplete diagnoses before reaching a definitive diagnosis. This can lead to confusion and frustration as they navigate the healthcare system in search of answers. Additionally, many clinicians may not be knowledgeable about these conditions, which can further complicate the diagnostic process [1].

Psychological Impact

The diagnosis challenges and the prolonged journey to obtain a correct diagnosis can have a significant psychological impact on individuals with EDS and HSD. The uncertainty, frustration, and lack of understanding can lead to high levels of distress and isolation.

Receiving a diagnosis of a hypermobility condition can bring a mix of emotions. While it may provide validation for the symptoms experienced, it can also be overwhelming to comprehend the long-term implications of the condition. Patients may experience anxiety, depression, and a sense of loss as they adjust to the challenges posed by their condition.

It is essential for individuals with EDS and HSD to have support systems in place. This may include access to healthcare professionals who are knowledgeable about these conditions, support groups where they can connect with others facing similar experiences, and mental health resources to address the psychological impact.

By providing a network of support, individuals with EDS and HSD can find solace in connecting with others who understand their struggles. It is also crucial for healthcare professionals to be empathetic, educated, and informed about these conditions to provide appropriate interventions and support.

If you or someone you know is dealing with a hypermobility condition, reaching out to support groups and seeking professional guidance can help navigate the challenges and provide the necessary emotional support. Remember, you are not alone, and there are resources available to assist you on your journey.

References

[1]: https://www.ncbi.nlm.nih.gov/books/NBK584966/

‍[2]: https://www.aafp.org/pubs/afp/issues/2021/0415/p481.html

‍[3]: https://www.ncbi.nlm.nih.gov/books/NBK1279/