Disability In Hypermobility Spectrum Disorder

Understanding Hypermobility Disorders

Hypermobility disorders encompass a range of conditions characterized by joint hypermobility, which refers to an increased range of motion in the joints beyond what is considered normal. However, it is essential to distinguish between joint hypermobility as a feature and a hypermobility disorder.

Joint Hypermobility vs. Disorders

Joint hypermobility itself is not considered a disorder unless it causes problems that disrupt normal function. Asymptomatic joint hypermobility, where there are no associated symptoms or complications, is not classified as a disorder [1]. It becomes a disorder when it leads to joint subluxations, dislocations, sprains, and other injuries, resulting in acute and chronic pain that significantly impacts daily life.

Diagnosis of Hypermobility Spectrum Disorder

Hypermobility Spectrum Disorder (HSD) is a classification introduced in 2017 to describe individuals with symptomatic joint hypermobility who do not have a known subtype of Ehlers-Danlos syndrome (EDS) and do not meet diagnostic criteria for hypermobile EDS (hEDS). To be diagnosed with HSD, evidence that joint hypermobility is causing problems and not just an asymptomatic feature is required.

Additionally, other conditions that could cause similar symptoms need to be ruled out for an HSD diagnosis.

It is important to note that HSD is distinct from Ehlers-Danlos Syndrome (EDS), which is a group of hereditary connective tissue disorders. EDS is characterized by joint hypermobility, skin hyperextensibility, and tissue fragility, among other features. However, individuals with HSD do not meet the diagnostic criteria for any specific subtype of EDS.

Understanding the distinctions between joint hypermobility, HSD, and other related conditions like EDS is crucial for accurate diagnosis and appropriate management. In the following sections, we will explore the different types and classifications of hypermobility disorders, as well as the challenges in diagnosis and the multidisciplinary approach to treatment.

Types and Classification

When it comes to hypermobility disorders, there are two important classifications to understand: Hypermobility Spectrum Disorders (HSD) and Joint Hypermobility Syndrome (JHS). Let's take a closer look at each of these classifications.

Hypermobility Spectrum Disorders (HSD)

Hypermobility Spectrum Disorders (HSD) is an updated term introduced in 2017 by the Ehlers-Danlos Society. It replaces previous nomenclature such as EDS type III, EDS-HT, hypermobility syndrome, JHS, and BJHS. HSD describes patients with symptomatic joint hypermobility who do not have a known subtype of Ehlers-Danlos syndrome (EDS) and do not meet diagnostic criteria for hypermobile EDS (hEDS).

To receive an HSD diagnosis, it is important to provide evidence that joint hypermobility is causing problems and not just an asymptomatic feature. Additionally, other conditions that could cause similar symptoms must be ruled out for an HSD diagnosis to be made.

Joint Hypermobility Syndrome (JHS)

Joint Hypermobility Syndrome (JHS) is an outdated diagnosis that should no longer be used. Most individuals previously diagnosed with JHS are now classified as having either hypermobile EDS (hEDS) or a type of HSD. The transition from JHS to the updated classification of HSD allows for more accurate and specific diagnosis and management of individuals with symptomatic joint hypermobility.

It is important to note that both HSD and JHS are diagnosed by applying the 2017 diagnostic criteria, which also exclude other less common conditions presenting with joint hypermobility, such as other forms of EDS and heritable connective tissue disorders.

Understanding the classification of hypermobility disorders, including HSD and the transition from JHS, is crucial for accurate diagnosis and appropriate management of individuals experiencing symptomatic joint hypermobility. By staying informed about these classifications, healthcare professionals and individuals affected by hypermobility disorders can work together to ensure the best possible care.

Differentiating Conditions

When discussing hypermobility-related disorders, it's important to differentiate between Hypermobility Spectrum Disorder (HSD) and Ehlers-Danlos Syndrome (EDS). While both conditions involve joint hypermobility, they have distinct characteristics and implications.

Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders that affect collagen production and function. There are several subtypes of EDS, each varying in symptoms and genetic causes. Common features of EDS include joint hypermobility, skin hyperextensibility, and tissue fragility.

The severity of EDS symptoms can range from mild joint hypermobility to severe joint dislocations and complications involving organs and blood vessels. The condition affects multiple body systems, including joints, skin, blood vessels, and organs. Treatment for EDS focuses on managing symptoms and preventing further complications to improve quality of life [5].

Hypermobility Spectrum Disorder (HSD)

Hypermobility Spectrum Disorder (HSD) is a broader term used to describe a spectrum of conditions related to joint hypermobility. HSD encompasses a range of symptoms and presentations, but may not meet the diagnostic criteria for a specific subtype of EDS. Individuals with HSD may experience various symptoms affecting different organ systems, such as chronic pain, gastrointestinal issues, and ocular or respiratory problems.

While HSD shares some similarities with EDS, it is important to note that HSD is not considered a subtype of EDS. The distinction lies in the specific genetic causes and manifestations of each condition. HSD and EDS can both have a significant impact on an individual's daily life and overall well-being.

To establish a correct diagnosis and receive appropriate management, individuals with hypermobility-related disorders often face challenges and delays. Studies have shown an average delay of 11-12 years in establishing a correct diagnosis for individuals with EDS or HSD, which can result in inappropriate interventions and increased distress and isolation.

Psychological assessment is also crucial for individuals with hypermobility-related disorders, as they may have a higher risk of developing symptoms of anxiety, depression, and other mental disorders. Identifying and addressing these conditions is important for improving daily functioning and adherence to treatments.

It is essential to consult with healthcare professionals and specialists experienced in managing these conditions to obtain an accurate diagnosis and develop a tailored treatment plan based on individual needs. Understanding the differences between HSD and EDS can help individuals and their healthcare providers navigate the spectrum of hypermobility-related disorders and provide appropriate support and care.

Prevalence and Impact

Understanding the prevalence and impact of Hypermobility Spectrum Disorder (HSD) and Ehlers-Danlos Syndrome (EDS) is crucial for individuals and caregivers navigating these conditions.

Prevalence of HSD and EDS

The true prevalence of HSD is not currently known, but it is believed to be a common condition, although it is not yet commonly diagnosed and treated, according to the Ehlers Danlos Society. On the other hand, the prevalence of HSDs and hypermobile EDS (hEDS) combined is estimated to be 1 in 600 to 1 in 900.

HSDs are considered common, and hEDS is likely to be common as well. However, the current prevalence figures are likely underestimates due to delays in diagnosis experienced by many individuals, as reported by NCBI.

In Wales, the diagnosed prevalence of EDS and HSD in 2016/2017 was 194.2 per 100,000 individuals, with a higher prevalence in females. The mean age at diagnosis showed a gender difference of 8.5 years. These conditions were associated not only with musculoskeletal diagnoses and drug prescriptions but also with significantly higher odds of diagnoses in other disease categories such as mental health, nervous, and digestive systems, as highlighted by NCBI.

Impact on Daily Life

EDS and HSD have historically been considered rare diseases primarily affecting the musculoskeletal system and soft tissues. However, recent data suggest that these conditions are multisystemic, with links to various other health issues. They can impact daily life in several ways, affecting physical and mental well-being.

In terms of physical symptoms, individuals with these conditions may experience chronic pain, joint instability, and fatigue. The impact can vary from mild to severe, leading to limitations in mobility and activities of daily living. The multisystemic nature of EDS and HSD can also result in cardiovascular autonomic dysfunction, gastrointestinal dysfunction, and gynecological and obstetric issues, as noted by NCBI.

The mental impairments associated with these conditions can include anxiety, depression, and cognitive difficulties. The chronic pain and limitations imposed by EDS and HSD can have a significant impact on mental health and overall quality of life.

Understanding the prevalence and impact of HSD and EDS is essential in providing support and resources for individuals and caregivers. It highlights the need for a multidisciplinary approach to diagnosis and treatment, ensuring comprehensive care that addresses the various manifestations and challenges associated with these conditions.

Symptoms and Manifestations

Hypermobility Spectrum Disorder (HSD) and Ehlers-Danlos Syndrome (EDS) can manifest in various ways, affecting both the physical and mental well-being of individuals. Understanding these symptoms and manifestations is crucial for accurate diagnosis and appropriate treatment.

Physical Symptoms

Patients with HSD and EDS may experience a wide range of physical symptoms that affect different organ systems. These symptoms can include chronic pain, gastrointestinal issues, nervous system abnormalities, ocular complications, respiratory problems, and urogenital manifestations. The severity and specific symptoms can vary between individuals, impacting their quality of life, employment opportunities, and daily activities.

It's important to note that the symptoms of HSD and EDS extend beyond the musculoskeletal system. These conditions are not solely related to joint hypermobility, but can affect various bodily functions. This understanding prompts a need for further research to reassess diagnostic criteria and develop evidence-based guidelines for HSD and EDS.

Mental Impairments

In addition to physical symptoms, individuals with HSD and EDS may experience mental impairments. Studies have shown a higher risk of anxiety, depression, and other mental disorders among individuals with hypermobile Ehlers-Danlos syndrome (hEDS) and HSD. These mental health conditions can significantly impact daily functioning and adherence to treatment plans.

A comprehensive approach to diagnosis and treatment should include psychological assessments to screen for mental health conditions. Identifying and addressing these conditions is essential for improving overall well-being and ensuring that individuals receive appropriate support and care [6].

Understanding the full spectrum of symptoms and manifestations associated with HSD and EDS is crucial for healthcare professionals and individuals seeking a proper diagnosis. It is important to consider both the physical and mental aspects of these conditions in order to provide comprehensive care and support to those affected.

For more information on hypermobility spectrum disorders, joint hypermobility syndrome, and differentiating conditions like Ehlers-Danlos syndrome, refer to the relevant sections in this article.

Diagnosis and Treatment

When it comes to diagnosing and treating Hypermobility Spectrum Disorder (HSD), there are several challenges that both patients and healthcare professionals may encounter. Due to the complexity of the condition and its overlapping symptoms with other conditions, reaching a definitive diagnosis can be a lengthy and intricate process. However, a multidisciplinary approach is essential to effectively manage the symptoms and provide appropriate care.

Challenges in Diagnosis

To diagnose HSD, healthcare professionals require evidence that joint hypermobility is causing problems and not just an asymptomatic feature. It is crucial to rule out other conditions that could cause similar symptoms before reaching an HSD diagnosis. This diagnostic challenge often leads to delays in establishing a correct diagnosis, which can be frustrating for patients and may result in inappropriate interventions.

Moreover, the symptoms experienced by individuals with HSD can vary widely, making diagnosis even more challenging. The symptoms can include joint pain, instability, fatigue, and a variety of extra-articular manifestations such as orthostasis, functional gastrointestinal disorders, and pelvic and bladder dysfunction [3].

It is crucial for healthcare professionals to carefully evaluate the patient's medical history, conduct a thorough physical examination, and consider any additional tests that may be necessary to reach a diagnosis.

Multidisciplinary Approach

A multidisciplinary approach is crucial in the diagnosis and treatment of HSD. This approach involves a team of healthcare professionals from various specialties who collaborate to provide comprehensive care to patients. The team may include rheumatologists, geneticists, physiotherapists, occupational therapists, and psychologists, among others.

The multidisciplinary team works together to address the different aspects of HSD, including musculoskeletal issues, pain management, and psychological well-being. This approach ensures that patients receive holistic care tailored to their specific needs. Additionally, it allows for ongoing monitoring of symptoms, adjustments in treatment plans, and the opportunity to address any new concerns that may arise.

Treatment for HSD focuses on managing symptoms and improving quality of life. This may include a combination of physical therapy to strengthen muscles and improve joint stability, pain management strategies, assistive devices to support joints, and psychological support to address any emotional challenges that may arise.

In conclusion, diagnosing and treating HSD can be complex, requiring a multidisciplinary approach and careful consideration of the patient's symptoms and medical history. The collaboration of healthcare professionals from various specialties ensures that patients receive comprehensive care tailored to their individual needs.

By addressing the challenges in diagnosis and implementing a multidisciplinary approach, individuals with HSD can receive the support and treatment necessary to manage their condition effectively.

References

[1]: https://www.ehlers-danlos.com/what-is-hsd/

‍[2]: https://www.abtaba.com/blog/what-is-hypermobility-spectrum-disorder

‍[3]: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10457547/

‍[4]: https://www.aafp.org/pubs/afp/issues/2021/0415/p481.html