Joint Hypermobility Syndrome: Symptoms, Types, Causes and Treatment

Joint Hypermobility Syndrome (JHS) is more than just being "double-jointed." This connective tissue disorder is characterized by joints that move beyond the normal range, often accompanied by pain, fatigue, and a host of other symptoms that can significantly impact quality of life. Despite its prevalence, JHS remains underdiagnosed, misunderstood, and frequently mistaken for other conditions. In this comprehensive article, we will explore the key symptoms, different types, underlying causes, and latest approaches to treatment for Joint Hypermobility Syndrome.

Symptoms of Joint Hypermobility Syndrome

Understanding the symptoms of JHS is essential for timely diagnosis and effective management. While joint-related complaints are most common, JHS is a multisystem disorder, and its symptoms can affect many areas of the body.

Symptom	Description	Prevalence/Impact	Source(s)
Joint pain	Chronic or recurrent pain in joints	Most common primary complaint	5 10 15
Fatigue	Persistent tiredness, not relieved by rest	High prevalence, affects daily life	2 3 5 16
Instability	Dislocations, sprains, subluxations	Frequent, leads to injuries	3 5 8 10
Dysautonomia	Dizziness, palpitations, syncope	Up to 78% in some studies	1 2 4 16
GI symptoms	Heartburn, nausea, constipation/diarrhea	37%–60% of patients	2 3 4
Skin changes	Hyperextensibility, easy bruising	Common but variable	5 8 9
Headache	Migraines, tension-type headaches	Frequently reported	5 16
Sleep problems	Poor sleep, unrefreshing rest	Significant contributor to fatigue	2 5
Anxiety/depression	Psychological symptoms	Higher prevalence than controls	2 5 12 16

Table 1: Key Symptoms of Joint Hypermobility Syndrome

Overview of Musculoskeletal Symptoms

• Joint Pain and Instability: Chronic or recurrent joint pain is the hallmark of JHS, often worsening after activity. Many patients experience frequent sprains, subluxations (partial dislocations), and even full dislocations, especially in the shoulders, knees, and fingers. Instability can lead to early-onset osteoarthritis and persistent discomfort 5 10 15.
• Muscle Complaints: Muscle cramps, myalgias (muscle pain), and weakness are also common, compounding the functional impact of joint instability 3 5.
• Fatigue: Fatigue is a prominent and often disabling symptom, not explained by activity or sleep quality. It is multifactorial, linked to muscle inefficiency, pain, sleep disturbance, and possibly dysautonomia 2 3 5 16.

Non-Musculoskeletal (Extra-Articular) Symptoms

• Dysautonomia: Many patients with JHS experience symptoms due to autonomic nervous system dysfunction, such as dizziness, palpitations, fainting (syncope), and heat intolerance. Disorders like postural orthostatic tachycardia syndrome (POTS) and orthostatic hypotension are notably more common in JHS than in the general population 1 2 4 16.
• Gastrointestinal Issues: GI symptoms—including heartburn, nausea, bloating, constipation, and diarrhea—are frequently reported. These symptoms may be due to altered connective tissue in the gut and dysautonomia, and often worsen with increasing severity of JHS 2 3 4.
• Skin Manifestations: Some individuals have soft, velvety, or stretchy skin, which bruises easily. Wound healing may be delayed, and atrophic (thin, sunken) scars can form 5 8 9.
• Headaches and Sleep Problems: Migraines and tension-type headaches are common, as are sleep disturbances, which further exacerbate fatigue and pain 5 16.
• Psychological Symptoms: Anxiety, depression, and poor sleep quality are more prevalent in JHS, often compounding the physical symptoms and reducing quality of life 2 5 12 16.

Symptom Clustering and Disease Course

• Symptoms can cluster and evolve over time. For example, children may primarily experience joint pain and instability, with extra-articular symptoms (e.g., GI, dysautonomia, psychological) emerging or intensifying during adolescence and adulthood 3 5.
• Those with multiple non-musculoskeletal symptoms tend to have more severe fatigue, anxiety, migraine, and sleep issues 2 5.

Types of Joint Hypermobility Syndrome

JHS is not a single, uniform condition but exists as part of a broader spectrum of hypermobility-related disorders. The terminology and classification have evolved, with growing recognition of overlap with other connective tissue disorders.

Type/Category	Features/Criteria	Overlap/Distinction	Source(s)
Generalised JHS	Widespread hypermobility + symptoms	Most common; may exist alone	6 7 8 10
Familial Hypermobility	Inherited, often familial	May have few or no symptoms	9 10
EDS, hypermobile type (hEDS)	Joint hypermobility, skin changes, chronic pain	Major overlap with JHS	6 7 8 9 12
Marfan syndrome	Marfanoid habitus, aortic issues, hypermobility	Distinct features; some overlap	9 11
Osteogenesis Imperfecta	Bone fragility, blue sclerae, mild hypermobility	Primarily bone involvement	9
Hypermobility Spectrum Disorders (HSD)	Symptomatic hypermobility not meeting other criteria	Catch-all for "in-between" cases	7

Table 2: Types and Classifications of JHS and Related Disorders

Generalised Joint Hypermobility Syndrome (JHS)

• Characterized by hypermobility in multiple joints combined with pain and other symptoms.
• Most commonly diagnosed using the Brighton criteria, which assess both mobility and symptom burden 6 10 15.

Familial Articular Hypermobility

• Family history is common, with a likely autosomal dominant inheritance pattern 9 10.
• Many family members may be asymptomatic or only mildly affected.

Ehlers–Danlos Syndrome, Hypermobile Type (hEDS)

• hEDS is now considered clinically indistinguishable from JHS in most cases; both share joint hypermobility, chronic pain, and minor skin features 6 7 8 9 12.
• The current medical consensus often merges JHS and hEDS into a single clinical entity 7 8 12.

Other Heritable Disorders of Connective Tissue

• Marfan Syndrome: Features tall stature, aortic dilation, lens dislocation, and variable hypermobility 9 11.
• Osteogenesis Imperfecta: Primarily features bone fragility, blue sclerae, and mild hypermobility 9.
• These conditions are genetically and clinically distinct but can overlap with JHS 9 11.

Hypermobility Spectrum Disorders (HSD)

• For cases with symptomatic joint hypermobility that do not fully meet criteria for JHS/hEDS or other syndromes, the term HSD is used 7.
• This recognizes a spectrum, rather than strict categories, of hypermobility-related conditions.

Age-Related Variations

• Hypermobility and symptoms often decline with age, but musculoskeletal complaints can remain or worsen due to accumulated joint damage 3 7.

Causes of Joint Hypermobility Syndrome

JHS is rooted in the biology of connective tissue, influenced by genetic and environmental factors. Understanding the causes helps guide both diagnosis and management.

Factor	Description	Evidence/Details	Source(s)
Genetics	Strong familial tendency, autosomal dominant inheritance	No single gene identified for JHS/hEDS	9 10 12
Connective tissue defects	Collagen and extracellular matrix abnormalities	Underlie joint laxity and fragility	9 12
Overlap with other HDCTs	Shared features with EDS, Marfan, OI	Phenotypic continuum	6 7 9 11
Environmental factors	Trauma, overuse, hormonal influences	May worsen symptoms	3 5 10
Age, sex, ethnicity	More common in females, children, some ethnicities	Declines with age	3 10

Table 3: Causes and Contributing Factors of JHS

Genetic Basis

• Inherited Disorder: JHS tends to run in families, with evidence for an autosomal dominant mode of inheritance. However, no specific gene has yet been identified for JHS or hEDS, unlike other EDS subtypes or Marfan syndrome 9 10 12.
• Connective Tissue Abnormalities: The core problem in JHS involves alterations in collagen or other extracellular matrix components. This leads to lax ligaments, joint instability, and sometimes fragile skin or blood vessels 9 12.

Overlap with Heritable Disorders of Connective Tissue

• JHS shares features with Ehlers–Danlos syndromes, Marfan syndrome, and osteogenesis imperfecta, all of which are genetic disorders affecting connective tissue 9 11.
• The boundaries between these disorders are increasingly recognized as blurred, forming a spectrum of "hypermobility syndromes" 6 7 9.

Environmental and Lifestyle Factors

• Trauma and Overuse: Injury or excessive joint use can trigger or worsen symptoms in those with underlying hypermobility 3 5 10.
• Hormonal Influences: Women are more commonly affected, and symptoms may fluctuate with hormonal changes 3 10.

Other Contributing Factors

• Age: Joint hypermobility is more common in children and declines with age, although symptoms such as pain may persist or worsen due to joint damage 3 10.
• Ethnicity and Body Build: Certain populations and body types may have a higher prevalence of hypermobility 10.

Treatment of Joint Hypermobility Syndrome

Managing JHS requires a comprehensive, multidisciplinary approach, as symptoms can affect multiple systems and evolve over time.

Approach	Key Elements	Effectiveness/Notes	Source(s)
Patient education	Information, reassurance, self-management	Essential first step	15 16 17
Physical therapy	Exercise, strengthening, proprioception	Mainstay; improves outcomes	13 14 16 17
Pain management	Analgesics, multidisciplinary strategies	Often challenging; non-pharmacologic preferred	5 12 16
Activity modification	Avoid overuse, joint protection	Reduces injury risk	15 16
Psychological support	CBT, counseling, anxiety/depression treatment	Key for quality of life	2 5 16
Autonomic/GI management	Target dysautonomia, GI symptoms	Multidisciplinary input needed	1 2 4 16
Surgery	Rare, for severe instability	Reserved for select cases	5 16

Table 4: Treatment Approaches for JHS

Patient Education and Self-Management

• Education: Patients benefit from understanding their condition, realistic expectations, and strategies to avoid exacerbating symptoms 15 16 17.
• Joint Protection: Learning how to move safely, avoid hyperextending joints, and respect pain limits is crucial 15 16.

Physical Therapy and Exercise

• Mainstay of Treatment: Tailored exercise programs focusing on muscle strengthening, proprioceptive training, and overall fitness are highly effective for children and adults 13 14 16 17.
• Evidence: While there is strong consensus for the benefit of exercise, evidence on the most effective type of exercise is limited. Programs should be individualized 13 14 17.
• Physical Fitness: Enhancing overall fitness helps reduce pain, fatigue, and injury risk 13 14.

Pain and Fatigue Management

• Multidisciplinary Approach: Pain is often chronic and multifactorial. A combination of physical therapy, pain education, pacing, and sometimes medication is needed 5 12 16.
• Analgesics: Traditional painkillers may be of limited benefit; non-pharmacological strategies are preferred 12 16.
• Fatigue: Addressing sleep quality, activity pacing, and psychological factors is important 5 16.

Management of Associated Symptoms

• Dysautonomia: Symptoms such as dizziness and palpitations may require lifestyle adjustments, increased fluid/salt intake, and sometimes medication 1 2 16.
• Gastrointestinal Complaints: May benefit from dietary modifications, GI specialist input, and treatment of underlying dysautonomia 4 16.
• Skin and Wound Care: For those with prominent skin fragility, careful wound management and protection against injury are needed 5 8.

Psychological Support

• Addressing Anxiety and Depression: Psychological symptoms are common and can exacerbate physical complaints. Cognitive behavioral therapy (CBT), counseling, and support groups are valuable 2 5 16.

Surgery

• Limited Role: Surgical intervention is reserved for severe, refractory joint instability or damage, and outcomes may be less predictable due to underlying tissue fragility 5 16.

Multidisciplinary Care

• Given the wide range of symptoms, optimal management often involves a team: physiotherapists, pain specialists, psychologists, rheumatologists, and other specialists as needed 16 17.

Conclusion

Joint Hypermobility Syndrome is a complex, underrecognized connective tissue disorder that impacts the lives of millions worldwide. Its symptoms go far beyond "being flexible," encompassing chronic pain, fatigue, instability, and a range of systemic complaints. Early recognition and a comprehensive, multidisciplinary approach are essential for optimal management and improved quality of life.

Key Takeaways:

• JHS is multisystemic: Symptoms include joint pain, fatigue, dysautonomia, GI issues, skin changes, and psychological effects 1 2 3 5.
• Exists on a spectrum: JHS overlaps with hEDS and other connective tissue disorders; clear-cut categories are rare 6 7 8 9.
• Genetic and environmental factors: No single gene identified, but strong familial tendency and connective tissue abnormalities are central 9 10 12.
• Treatment is multidisciplinary: Physical therapy, patient education, pain management, psychological support, and specialist input are key 13 14 15 16 17.
• More research needed: There are gaps in understanding the causes and optimal treatments, highlighting the need for further research 12 14 17.

If you or someone you know is struggling with unexplained chronic pain and joint symptoms, consider discussing the possibility of JHS with a healthcare provider familiar with connective tissue disorders. Early recognition and tailored management can make a significant difference.