Hypermobility Spectrum Disorder vs Eds

Understanding the Spectrum of Joint Hypermobility and Connective Tissue Disorders

By Milestone Achievements Staff

May 26, 2025

Exploring the Differences and Overlaps Between HSD and EDS

Joint hypermobility is a common trait that ranges from benign, asymptomatic flexibility to debilitating systemic connective tissue disorders. Among these, Hypermobility Spectrum Disorder (HSD) and Ehlers-Danlos Syndromes (EDS) are two related but distinct conditions. This article delves into their clinical features, diagnostic criteria, genetic factors, management strategies, and the ongoing debates surrounding their classification, highlighting the importance of nuanced diagnosis and tailored care.

Classification and Spectrum of Hypermobility Disorders

Is there a spectrum of hypermobility from asymptomatic joint hypermobility to hypermobile EDS?

Yes, joint hypermobility exists along a broad spectrum that ranges from cases with no symptoms to more severe connective tissue disorders such as hypermobile Ehlers-Danlos syndrome (hEDS). This variation in presentation is recognized in current medical classifications and highlights the importance of understanding how hypermobility can impact individuals differently.

At the mildest end of the spectrum, some individuals display joint hypermobility without any associated symptoms or health concerns. These are often healthy people, including children and some adults, who can move joints beyond typical limits but experience no pain, dislocations, or other problems. This asymptomatic hypermobility is often familial, seen in relatives of people with connective tissue disorders, and is sometimes called generalized joint hypermobility.

Moving along the spectrum, there are hypermobility spectrum disorders (HSD). These conditions involve joint hypermobility accompanied by symptoms such as joint pain, frequent dislocations, or injury susceptibility. Despite these symptoms, individuals with HSD do not meet the strict diagnostic criteria for Ehlers-Danlos syndromes, particularly the hypermobile type (hEDS). They often experience significant musculoskeletal issues that impact daily activities and quality of life.

At the severe end of this spectrum lies hypermobile Ehlers-Danlos syndrome (hEDS). It is a heritable connective tissue disorder characterized by extensive joint hypermobility, tissue fragility, skin hyperextensibility, and recurrent dislocations. Patients often face increased risks of early osteoarthritis, chronic pain, and complications involving internal organs. Although classified as a genetic disorder, a specific gene mutation has yet to be identified for hEDS, making diagnosis primarily clinical.

This spectrum underscores the wide-ranging impact of hypermobility, from benign, asymptomatic traits to complex syndromes requiring multidisciplinary management. It reflects ongoing efforts to refine diagnostic criteria and improve understanding of the underlying causes of these conditions.

Relationship between asymmetric traits and systemic syndromes

Research and clinical observations suggest that hypermobility can manifest asymmetrically, affecting some joints more than others. This asymmetry can sometimes be a clue to underlying systemic syndromes such as hEDS, other types of EDS, or related connective tissue disorders.

In systemic syndromes, hypermobility often involves multiple joints and is accompanied by other features like skin abnormalities, internal organ prolapse, or vascular fragility. The presence of asymmetric joint hypermobility can help clinicians differentiate between isolated hypermobility and syndromic forms. It also influences treatment strategies, as more systemic involvement may require a broader, multidisciplinary approach.

Spectrum from asymptomatic hypermobility to hEDS

The evolving understanding of hypermobility recognizes it as a spectrum rather than a binary condition. This approach emphasizes that some individuals may exhibit only isolated hypermobile joints without any adverse health effects. Others may experience symptoms that only mildly impair function, while a subset develops severe, multisystem disorders like hEDS.

This spectrum concept has significant implications for diagnosis and management. It encourages healthcare providers to consider the full range of hypermobility presentations and tailor treatment plans accordingly. For example, asymptomatic people may need reassurance and education, whereas those with HSD or hEDS require ongoing monitoring, physical therapy, and possibly surgical interventions.

In conclusion, the current classification schemes acknowledge the wide variability in hypermobility-related conditions, moving away from outdated singular diagnoses towards a nuanced appreciation of the spectrum. This shift aims to improve diagnostic accuracy, patient care, and our understanding of how connective tissue abnormalities affect the musculoskeletal and other body systems.

Summary of Hypermobility Conditions and Features

Condition	Typical Symptoms	Underlying Cause	Diagnostic Approach	Prevalence	Notes
Asymptomatic Hypermobility	No symptoms	Often familial, no health impact	Clinical assessment, Beighton score	Common in children and adults	No intervention needed
Hypermobility Spectrum Disorder (HSD)	Pain, dislocations, injury risk	Connective tissue laxity, no full criteria for EDS	Clinical criteria including symptom history	Common, likely underdiagnosed	Managed with physiotherapy and lifestyle
Hypermobile Ehlers-Danlos Syndrome (hEDS)	Joint hypermobility, skin hyperextensibility, dislocations, chronic pain	No current genetic marker identified	Clinical diagnosis per 2017 criteria	1 in 5,000 to 20,000 worldwide	Increased risk of complications; multisystem

Understanding this range helps clinicians provide appropriate care and encourages ongoing research into the causes and management of hypermobility-related conditions.

More Information Search Query: Hypermobility spectrum disorders classification and spectrum.

Diagnostic Criteria and Clinical Evaluation

What are the diagnostic criteria for Hypermobility Spectrum Disorder (HSD)?

Diagnosing Hypermobility Spectrum Disorder (HSD) primarily hinges on clinical assessment rather than specific laboratory tests. The criteria focus on the patient's medical history, physical symptoms, and exclusion of other connective tissue disorders.

The core of diagnosis involves identifying a history of joint hypermobility that results in problems such as persistent pain, joint instability, dislocations, injuries, or functional impairment. Importantly, these symptoms must be significant enough to affect the individual’s daily life.

A crucial tool in evaluating hypermobility is the Beighton Score, a 9-point scale that measures joint flexibility across various joints such as the little fingers, thumbs, elbows, knees, and the ability to place palms on the floor with straight knees. Depending on age and sex, different cutoff points are used: for example, a score of 6 or above generally indicates hypermobility in children, while a cutoff of 5 or higher is used for adults, and 4 over age 50.

In addition to the Beighton Score, a comprehensive questionnaire evaluates other signs and symptoms associated with HSD, such as skin elasticity, slow wound healing, and musculoskeletal pain.

HSD is classified into four subtypes:

Subtype	Description	Specific Features
Generalized HSD	Involving multiple joints with symptoms	Widespread hypermobility, pain, and instability
Localized HSD	Affecting a few specific joints	Often related to trauma or overuse
Peripheral HSD	Involving joints of the hands and feet	Often presents with frequent sprains or dislocations
Historical HSD	Previously hypermobile but no current symptoms	Past hypermobility with no ongoing issues
Asymptomatic Hypermobile	Joint flexibility without symptoms	No pain, no functional impairment

Since these diagnostic criteria are still being validated through ongoing research, they are regarded as guideline-based rather than definitive. Clinicians rely heavily on their judgment, patient history, symptom pattern, and ruling out other conditions.

The process also involves the exclusion of other connective tissue disorders such as Ehlers-Danlos syndrome, Marfan syndrome, and Down syndrome, which can present with similar features. The absence of specific genetic or laboratory tests means that diagnosis can evolve over time as new symptoms develop or as more understanding about hypermobility-related disorders emerges.

Use of Beighton score and questionnaire

The Beighton score is a quick, standardized method to assess hypermobility. It involves five tests focusing on flexibility in fingers, thumbs, elbows, knees, and the ability to bend forward and place palms flat on the floor with knees straight.

Patients complete questionnaires gathered from clinical interviews that probe for related symptoms such as joint pain, fatigue, skin features, and previous dislocations. These components together guide clinicians to a diagnosis.

Ruling out other connective tissue disorders

Since hypermobility can be a feature of various disorders, other conditions must be excluded thoroughly before settling on HSD. These include:

Ehlers-Danlos syndromes (except hypermobile type, which overlaps)
Marfan syndrome
Osteogenesis imperfecta
Rheumatoid arthritis
Chromosomal syndromes
Neuromuscular disorders

In the absence of specific diagnostic tests, the diagnosis is entirely clinical. Ongoing research seeks to refine these criteria, making it crucial for clinicians to stay updated with the latest consensus guidelines and for patients to be evaluated by specialists familiar with connective tissue disorders.

Search query for further information: HSD diagnostic criteria clinical assessment

This approach emphasizes early diagnosis, accurate symptom assessment, and ongoing monitoring as crucial steps in managing hypermobility spectrum disorders effectively.

Clinical Features and Symptomatology

What are the common symptoms and clinical features of HSD and EDS?

Individuals with Hypermobility Spectrum Disorder (HSD) and Ehlers-Danlos Syndrome (EDS) share a range of symptoms primarily stemming from joint hypermobility and connective tissue fragility. One of the hallmark features is joint hypermobility, which allows joints to move beyond normal ranges. This excess flexibility can lead to joint instability, frequent dislocations or subluxations, and a higher susceptibility to injuries like sprains and ligament tears.

Beyond joint issues, patients often report chronic musculoskeletal pain that can be diffuse and persistent. This pain is often accompanied by fatigue, making daily activities challenging. Many individuals also experience poor proprioception, which affects balance and increases the risk of falls.

Skin-related features are common in some EDS types, especially classical and vascular forms, but are also observed in others. These include soft, velvety, or stretchy skin that bruises easily, heals slowly, and may form wide scars or hernias.

Autonomic nervous system dysfunction is another component, manifesting as dizziness, fainting (orthostatic hypotension), headaches, and even episodes of rapid heartbeat or palpitations. Gastrointestinal disturbances such as constipation, irritable bowel syndrome, or abdominal pain are frequently reported, reflecting systemic involvement.

In addition, some individuals experience systemic signs like bladder or bowel dysfunction, pelvic organ prolapse, or hernias, indicating that connective tissue weakness affects internal organs and structures.

The severity and spectrum of these features vary widely among individuals. While some may have predominantly joint-related symptoms, others face significant extra-articular issues. Consequently, management strategies are tailored to address specific symptoms, often involving physiotherapy to improve joint stability, pain relief interventions, and supportive therapies for systemic manifestations.

Overall, understanding these clinical features is crucial for early diagnosis, appropriate management, and improving quality of life for those affected by HSD and EDS.

Genetic and Inherited Aspects

Are there genetic or inherited factors associated with HSD and EDS?

Many types of Ehlers-Danlos syndrome (EDS) are inherited, with most being passed down in either autosomal dominant or autosomal recessive patterns. Specific gene variants associated with EDS, such as mutations in COL5A1, COL5A2, and COL3A1, have been identified, providing a genetic basis for these conditions. These gene mutations are responsible for most of the rarer and classical forms of EDS.

However, the genetic causes of hypermobile Ehlers-Danlos syndrome (hEDS) and Hypermobile Spectrum Disorder (HSD) remain largely elusive. No specific genetic marker has been confirmed for hEDS, making its diagnosis primarily clinical. The absence of a genetic test means that clinicians rely on symptom assessment, family history, and physical examinations for diagnosis.

Despite the genetic nature of many EDS subtypes, the majority of hEDS cases do not have an identifiable mutation. This suggests that factors beyond known gene mutations might contribute to its manifestation, possibly involving complex genetic interactions or environmental factors.

Inheritance patterns differ among the various types:

Autosomal dominant inheritance is typical for hypermobile, classical, and vascular EDS, where only one copy of the mutated gene is enough to cause the disorder.
Autosomal recessive inheritance is observed in some rarer types like kyphoscoliotic EDS, requiring two copies of the mutated gene.

In contrast, the inheritance pattern for HSD is less clear. Since HSD is a diagnosis based on clinical features rather than genetic testing, its genetic foundations are not well-understood. It is believed to be heritable, given its familial clustering, but specific mutations have yet to be identified, which complicates genetic counseling.

Overall, while many EDS subtypes are well-characterized genetically, the inherited or genetic factors underlying HSD and hEDS remain largely undefined. This ongoing gap reflects the need for further genetic research to understand these complex conditions better.

Management and Treatment Strategies

Comprehensive, Multidisciplinary Care for Hypermobility Disorders

What are the management and treatment considerations for individuals with HSD and EDS?

Managing hypermobility spectrum disorders (HSD) and various types of Ehlers-Danlos syndromes (EDS) requires a tailored, multidisciplinary approach. Since there is currently no cure for these conditions, treatment primarily focuses on alleviating symptoms, preventing complications, and improving quality of life.

A central component of management is symptom relief through physical therapy. Strengthening muscles around hypermobile joints helps stabilize the joints and reduce dislocations or injuries. In some cases, orthotic supports like braces, ankle-foot orthoses, or splints are used to protect fragile joints and prevent recurrent injuries.

Pain management is vital, involving medications such as analgesics, anti-inflammatory drugs, and sometimes neuropathic pain medications, depending on the severity and nature of pain. For chronic pain and fatigue, non-pharmacological approaches like cognitive-behavioral therapy and graded exercise programs can be beneficial.

Lifestyle adaptations are crucial. Patients are advised to engage in low-impact physical activities like swimming or cycling to maintain mobility without putting stress on joints. Protecting the skin from trauma, avoiding heavy lifting, and ensuring safe environments help prevent injury. Patients are also encouraged to implement pacing strategies to avoid overexertion.

Addressing interconnected issues is also part of comprehensive care. This includes managing autonomic dysfunction symptoms like dizziness or fainting via specific therapies, treating gastrointestinal problems with dietary adjustments, and monitoring cardiovascular or organ involvement in certain subtypes like vascular EDS.

Psychological support plays an essential role, given the emotional toll of living with a chronic, complex disorder. Counseling, support groups, and patient education empower individuals to understand their condition and participate actively in self-care.

Because tissue fragility can complicate invasive procedures, careful planning with experienced specialists is recommended when surgical interventions are necessary. Regular organ system evaluations and tailored treatment plans help detect and manage potential complications early.

In sum, successful management of HSD and EDS hinges on a coordinated team approach that addresses physical symptoms, mental health, lifestyle, and preventive care, enabling individuals to lead healthier, more active lives despite their conditions.

Overlap, Differentiation, and Diagnostic Challenges

Distinguishing HSD from hEDS: Diagnostic Nuances and Challenges

How can HSD be differentiated from specific types of Ehlers-Danlos syndromes, such as hypermobile EDS (hEDS)?

Distinguishing Hypermobility Spectrum Disorder (HSD) from hypermobile Ehlers-Danlos syndrome (hEDS) primarily depends on clinical diagnostic criteria. Both conditions involve joint hypermobility, which refers to joints moving beyond the normal range along physiological axes. However, the criteria for hEDS are more specific and stricter, based on an international consensus established in 2017.

For diagnosing hEDS, clinicians assess a combination of features including joint hypermobility (using the Beighton score), systemic manifestations affecting multiple organ systems, skin characteristics such as fragility or overstretching, and a positive family history of the disorder. Importantly, other potential causes, such as other EDS subtypes, connective tissue disorders like Marfan syndrome, or injury, must be ruled out.

In contrast, HSD covers a broader spectrum of hypermobility-related issues that do not meet all the requirements for hEDS. This includes individuals with symptomatic joint hypermobility who experience pain, dislocations, joint injuries, or musculoskeletal problems but lack the systemic features or the extent of hypermobility needed for an hEDS diagnosis.

The key element differentiating the two is the diagnostic threshold. While hEDS diagnosis includes specific criteria related to skin, musculoskeletal, and systemic involvement along with hypermobility, HSD is diagnosed when hypermobility causes functional limitations or symptoms but does not fulfill all the criteria for hEDS. Hence, HSD is considered a less specific or broader category that captures individuals with hypermobility and related symptoms but without the full systemic profile of hEDS.

In practice, this means that healthcare providers evaluate joint hypermobility through clinical scores such as the Beighton score, assess for associated symptoms like skin fragility or organ prolapse, review family history, and consider other differential diagnoses. The presence of additional features beyond hypermobility tips the diagnosis toward hEDS, whereas their absence with relevant symptoms might lead to an HSD diagnosis.

In summary, the primary difference lies in the diagnostic thresholds: hEDS requires generalized joint hypermobility plus systemic features and family history, whereas HSD involves hypermobility with symptoms but does not meet the full criteria for EDS. Recognizing this distinction helps guide appropriate management, surveillance, and patient counseling.

Epidemiology, Prevalence, and Societal Impact

Understanding the Wide Prevalence and Societal Impact of Hypermobility Disorders

What is the prevalence of HSD and EDS, and how does it impact healthcare?

Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders affecting the body's structural components. According to multiple population studies and research, the overall prevalence of all types of EDS is estimated at about 1 in 5,000 people. This makes EDS one of the most common hereditary connective tissue disorders.

Among its various subtypes, classical EDS is less common, with an estimated prevalence of approximately 1 in 20,000 to 40,000 individuals. Vascular EDS, which affects blood vessels and internal organs, is rarer still, occurring in about 1 in 100,000 to 200,000 people. Other EDS types, such as kyphoscoliotic or arthrochalasia, are ultra-rare, affecting fewer than 1 in a million individuals.

When considering joint hypermobility syndrome (JHS) and EDS together, earlier research placed the combined prevalence between 1 in 500 and 1 in 800. However, recent classifications introduced in 2017—particularly distinguishing hypermobility spectrum disorders (HSD) and hypermobile EDS (hEDS)—suggest a broader scope. These conditions are now thought to be far more common, with a combined prevalence estimate around 1 in 600 to 1 in 900 people.

HSD, which encompasses individuals with symptomatic joint hypermobility that does not meet full criteria for hEDS or other EDS types, is likely quite prevalent in the general population. Similarly, hypermobile EDS (hEDS), being the most common subtype, is also considered more widespread than previously believed.

Underdiagnosis issues

Despite their prevalence, many individuals with EDS or HSD remain undiagnosed. Diagnosis often depends heavily on clinical assessments, as there are no definitive genetic tests for hEDS or HSD currently available. As a result, there is a significant delay in diagnosis—often over a decade—which hampers timely intervention. Underdiagnosis leads to inadequate management of symptoms such as chronic pain, joint dislocations, fatigue, and multisystem complications. It also affects health care resource planning and allocation, as the true burden of these conditions remains underestimated.

Public awareness and celebrity awareness

In recent years, awareness initiatives and celebrity disclosures have played a critical role in destigmatizing hypermobility-related conditions. Public figures openly sharing their experiences have helped educate the wider community, improve understanding, and encourage more individuals to seek assessment and support.

Increased awareness has also fostered research interest, leading to advancements in diagnostic criteria, such as the 2017 revisions, and improvements in multidisciplinary treatment approaches. Ultimately, broader societal recognition aims to improve quality of life for those affected and optimize healthcare strategies.

Aspect	Details	Implications
Prevalence of EDS	~1 in 5,000 overall	Common but under-recognized, affecting healthcare planning
Classical EDS	1 in 20,000–40,000	Less common, with distinct skin and connective tissue features
Vascular EDS	1 in 100,000–200,000	Rare, with serious risks like vessel rupture
HSD & hEDS	~1 in 600 to 1 in 900	Very common, often undiagnosed, predominant in clinical practice
Underdiagnosis problems	Delay over a decade in many cases	Delayed treatment impacts quality of life and increases system burden
Human factor (awareness)	Influenced by celebrity stories and advocacy	Increased diagnosis rates, reduced stigma, enhanced research

Understanding the scope and impact of hypermobility disorders like HSD and EDS is vital. These conditions, once considered rare, are now recognized as common and complex, demanding attention from healthcare providers, researchers, and society at large to improve diagnosis, treatment, and support systems.

The Importance of Multidisciplinary Care and Patient Support

Empowering Patients through Education, Physiotherapy, and Psychological Support

Embracing a Comprehensive Management Approach

Managing joint hypermobility and related disorders like hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) requires a holistic approach. Since these conditions affect multiple systems within the body, treatment cannot rely solely on medication or isolated therapies. Instead, a multidisciplinary team ensures that all aspects of a patient’s health are addressed.

This approach focuses on stabilizing joints, alleviating pain, reducing injury risk, and improving overall quality of life. It involves early intervention, personalized therapy plans, and consistent monitoring. Patients are empowered through education and supported to manage symptoms effectively, preventing long-term complications.

Role of Physiotherapy, Counseling, and Education

Physiotherapy is central to treatment, aiming to strengthen muscles around unstable joints, enhance proprioception (body awareness), and promote joint stability. Tailored exercises help prevent dislocations and reduce pain. Physiotherapists also advise on activity modifications to avoid overstraining fragile tissues.

Counseling and mental health support are crucial, given that chronic pain and functional limitations can lead to anxiety, depression, and fatigue. Psychological support helps patients develop coping strategies, improve resilience, and navigate the emotional challenges associated with managing a lifelong condition.

Education plays a vital role in patient autonomy. Providing patients and families with comprehensive information about the disorder, typical progression, lifestyle adjustments, and injury prevention enhances their ability to manage daily challenges. Awareness about safe physical activity, avoiding high-impact sports, and protecting joints during routine activities can significantly reduce injury risk.

Addressing Multisystem Involvement

Both hEDS and HSD are multisystemic disorders, often affecting cardiovascular, gastrointestinal, neurological, and other body systems beyond the joints. Effective management involves collaboration among various specialists such as cardiologists, gastroenterologists, neurologists, and pain specialists.

For example, autonomic dysfunction may cause dizziness or heart rate irregularities, requiring specific interventions. Digestive issues might need dietary modifications and targeted treatments. Regular surveillance and personalized care plans help detect and address emerging problems early.

A coordinated approach also facilitates timely referrals for advanced diagnostics or treatments, ensuring that patients receive comprehensive care tailored to their evolving needs.

Summing Up

In summary, managing hypermobility conditions like hEDS and HSD demands an integrated, patient-centered strategy. Such a multidisciplinary model promotes not only symptom control but also enhances functional ability and mental well-being. Education, physical therapy, psychological support, and multisystem surveillance together forge a path towards better living with these complex conditions.

To learn more about effective strategies for managing HSD and EDS, consult recent research and guidelines through resources like "Multidisciplinary management of HSD and EDS." This ensures that healthcare providers stay updated on best practices and that patients benefit from the most comprehensive care available.

Navigating the Spectrum for Better Patient Care

Understanding the nuanced relationship between Hypermobility Spectrum Disorder and Ehlers-Danlos Syndromes is crucial for accurate diagnosis, management, and research. Recognizing that these conditions exist on a spectrum, with overlaps and distinctions, allows healthcare providers to tailor interventions and improve quality of life for affected individuals. Continued research, awareness, and a multidisciplinary approach remain essential in addressing the varied manifestations of hypermobility and connective tissue disorders.