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Ehlers-Danlos syndrome (hypermobile type)
This condition affects the body's connective tissues, leading to unusually flexible joints that dislocate easily, chronic pain, and fatigue. It is the most common form of Ehlers-Danlos syndrome, affecting approximately 1 in 500 to 5,000 people in the UK, with symptoms typically emerging in childhood or adolescence.
Overview
Ehlers-Danlos syndrome (hypermobile type), often abbreviated as hEDS, represents the most frequently encountered subtype within the Ehlers-Danlos syndrome spectrum. The condition arises from abnormalities in connective tissue - the structural framework that supports organs, blood vessels, skin, and joints throughout the body. Unlike other Ehlers-Danlos subtypes where specific genetic causes have been identified, the molecular basis of hypermobile type remains unknown, making diagnosis reliant on clinical criteria rather than genetic testing.
People with this condition experience joints that move beyond the normal range of motion, a characteristic termed hypermobility. Whilst mild joint flexibility is common in the general population, those with hEDS have widespread hypermobility accompanied by recurrent joint dislocations or subluxations (partial dislocations), chronic pain, and various complications affecting multiple body systems. The condition shows considerable variation in severity between individuals, ranging from mild joint instability to significantly disabling symptoms that affect daily functioning.
Estimates suggest hEDS affects roughly 1 in 500 to 5,000 individuals, though exact prevalence remains uncertain because many cases go unrecognised or are misdiagnosed. The condition affects people of all ethnic backgrounds and is diagnosed more frequently in women, though this may partly reflect diagnostic bias or differences in how symptoms manifest across sexes. Symptoms typically become apparent during childhood or adolescence, though some individuals receive their diagnosis only in adulthood after years of unexplained symptoms.
Symptoms & clinical features
Joint hypermobility forms the hallmark feature, with affected individuals able to bend their joints well beyond typical limits. Common manifestations include the ability to touch the thumb to the forearm, hyperextend elbows and knees backwards, and place palms flat on the floor whilst keeping legs straight. However, hypermobility alone does not constitute hEDS - the diagnosis requires hypermobility alongside other features including recurrent joint dislocations, chronic pain, and tissue fragility.
Chronic musculoskeletal pain represents one of the most debilitating aspects of the condition. This pain typically affects multiple joints and often worsens with activity, though paradoxically may also increase with prolonged rest. Many individuals experience muscle pain and tension as muscles work overtime to stabilise unstable joints. Fatigue is extremely common and can be profound, frequently described as overwhelming tiredness that does not improve with rest. Additional features may include soft, velvety skin that bruises easily, slow wound healing, hernias, organ prolapse (particularly uterine or rectal), and gastrointestinal symptoms such as irritable bowel syndrome.
Autonomic dysfunction occurs in many people with hEDS, manifesting as dizziness upon standing (postural orthostatic tachycardia syndrome or POTS), palpitations, temperature regulation difficulties, and digestive problems. Anxiety and low mood are more prevalent than in the general population; research increasingly explores potential neuroinflammatory and autonomic links between hEDS and mood disorders. Some individuals develop mast cell activation symptoms including flushing, hives, and food sensitivities, though the relationship between hEDS and mast cell disorders requires further research.
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Affected organs
Because connective tissue exists throughout the body, hEDS can affect multiple organ systems. The musculoskeletal system bears the most obvious impact, with ligaments, tendons, and joint capsules showing increased laxity. This leads to joint instability, early-onset osteoarthritis from abnormal joint mechanics, and increased risk of soft tissue injuries including tendon ruptures and ligament tears. Muscles may develop chronic tension and trigger points as they compensate for joint instability.
The cardiovascular system can show involvement through orthostatic intolerance and autonomic dysfunction, whilst some individuals develop mitral valve prolapse or mild aortic root dilatation (though clinically significant aortic complications are rare in hEDS, unlike vascular Ehlers-Danlos syndrome). The gastrointestinal tract frequently demonstrates dysmotility, contributing to symptoms of constipation, bloating, reflux, and functional bowel disorders. Pelvic organ prolapse affects a substantial proportion of women with hEDS. The skin, whilst not as dramatically affected as in classical Ehlers-Danlos syndrome, shows increased softness and fragility with easy bruising. Dental crowding and temporomandibular joint dysfunction are common, and some individuals experience recurrent hernias or need for surgical mesh repairs.
Risks & severity
The severity of hEDS varies considerably between affected individuals and often fluctuates over time within the same person. Some experience relatively mild symptoms that require minimal intervention, whilst others face significant disability affecting their capacity to work, maintain relationships, and perform daily activities. Pain and fatigue represent the symptoms most likely to impact quality of life substantially, with many individuals requiring multimodal pain management strategies and activity pacing techniques.
Joint complications accumulate over time, with recurrent dislocations potentially leading to chronic joint instability and early degenerative changes. Research suggests that individuals with hEDS may develop osteoarthritis at younger ages than the general population, particularly in frequently dislocated joints. Pregnancy can present particular challenges, with increased joint laxity, higher rates of pelvic girdle pain, premature rupture of membranes, and postpartum haemorrhage reported more frequently than in unaffected women. Surgical procedures may carry increased risk of poor wound healing, excessive bleeding, and complications from local anaesthetics, though these risks are generally manageable with appropriate precautions. The condition does not typically affect life expectancy, distinguishing it from vascular Ehlers-Danlos syndrome where life-threatening complications occur.
Genetic causes
Unlike other Ehlers-Danlos syndrome subtypes where pathogenic variants in specific genes have been identified, the genetic cause of hypermobile type remains unknown. Extensive research has failed to identify a single causative gene, leading some experts to hypothesise that hEDS may result from variants in multiple different genes, possibly interacting with environmental factors. The absence of an identified genetic cause means that DNA testing cannot currently confirm or exclude hEDS, making clinical diagnosis essential.
Connective tissue contains various proteins including collagens, proteoglycans, and structural glycoproteins that provide tissues with strength and elasticity. In hEDS, some aspect of connective tissue structure or assembly appears disrupted, though the precise molecular defect remains elusive. Research continues to investigate candidate genes involved in collagen processing, extracellular matrix assembly, and tissue remodelling, though no definitive pathogenic variants have been validated. Some studies suggest overlap with genes implicated in hypermobility spectrum disorders, though clear genotype-phenotype correlations remain to be established.
The lack of identified genetic cause creates diagnostic challenges and means families cannot access predictive genetic testing for at-risk relatives. However, clinical observation clearly demonstrates familial clustering, with the condition showing autosomal dominant inheritance patterns in many families - meaning an affected parent has a 50% chance of passing the condition to each child, regardless of the child's sex.
Inheritance pattern
Ehlers-Danlos syndrome (hypermobile type) follows an autosomal dominant inheritance pattern in many families, meaning only one altered copy of the causative gene (once identified) would be sufficient to cause the condition. When a parent has hEDS, each of their children has a 50% chance of inheriting the condition. The condition affects males and females, though diagnosis appears more common in females, possibly reflecting symptom expression differences or diagnostic bias.
Because the causative gene remains unidentified, inheritance patterns are inferred from family studies rather than confirmed through genetic analysis. Some individuals with hEDS report no family history of similar symptoms, which could reflect variable expression (where family members carry the genetic change but show minimal symptoms), new spontaneous changes, or the possibility that hEDS encompasses multiple genetic causes with different inheritance patterns. The phenomenon of anticipation - where symptoms appear more severe in successive generations - has been suggested but not conclusively demonstrated.
For families where a parent has hEDS, offspring showing signs of hypermobility during childhood warrant clinical monitoring, though many features only become fully apparent during adolescence or adulthood. Relatives of affected individuals may benefit from clinical genetics assessment to discuss inheritance risks and family planning options, though the absence of genetic testing limits predictive capabilities.
Each child has a 50% chance of inheriting the pathogenic variant, regardless of sex.
Diagnosis & testing
Diagnosis of hEDS relies entirely on clinical criteria because no genetic test currently exists for this subtype. The 2017 International Classification established strict diagnostic criteria requiring: generalised joint hypermobility (measured using the Beighton score, which assesses flexibility at specific joints), additional features such as soft skin and recurrent dislocations, absence of other conditions that could explain the symptoms, and often a family history consistent with autosomal dominant inheritance.
Clinicians use the Beighton scoring system to quantify hypermobility objectively, awarding points for specific joint movements including hyperextending the small fingers beyond 90 degrees, opposing the thumbs to the forearms, hyperextending elbows and knees beyond 10 degrees, and placing palms flat on the floor with straight knees. Adults require a Beighton score of 5 or more out of 9 points (or historical evidence of hypermobility if current scores are lower due to age-related stiffening). Additional criteria include features such as unusually soft or hyperextensible skin, unexplained striae, recurrent hernias, pelvic organ prolapse, and dental crowding.
Diagnosis typically occurs through clinical genetics services or specialist rheumatology clinics with expertise in connective tissue disorders. Whilst genetic testing cannot confirm hEDS, it may be offered to exclude other Ehlers-Danlos subtypes where specific genes are known, particularly if features suggestive of classical or vascular types are present. Within the NHS Genomic Medicine Service, referrals typically follow local pathways for suspected heritable connective tissue disorders, and genetic counsellors play an important role in explaining the diagnostic process and inheritance implications to families.
Management & lifestyle
Management of hEDS focuses on symptom control, preventing complications, and optimising function, as no cure currently exists. A multidisciplinary approach typically proves most effective, involving physiotherapy, occupational therapy, pain management, and psychological support. Physiotherapy forms the cornerstone of management, with programmes emphasising muscle strengthening to stabilise hypermobile joints, proprioceptive training to improve joint position sense, and low-impact cardiovascular conditioning. Hydrotherapy often proves particularly beneficial as water provides support whilst allowing movement.
Pain management requires individualised approaches, potentially including medications, activity pacing, cognitive behavioural strategies, and physical modalities. Joint protection techniques taught by occupational therapists help minimise injury risk during daily activities, whilst adaptive equipment may reduce strain on vulnerable joints. Some individuals benefit from joint bracing or taping, though prolonged immobilisation generally proves counterproductive. Fatigue management typically involves energy conservation strategies, sleep hygiene optimisation, and graded activity programmes that avoid boom-bust cycles.
Surgical interventions for recurrent dislocations or severe joint instability require careful consideration, as connective tissue abnormalities may compromise healing and surgical outcomes. When surgery proves necessary, informing the surgical and anaesthetic teams about the hEDS diagnosis allows appropriate precautions regarding wound closure, blood clotting, and anaesthetic choices. Regular cardiovascular monitoring may be recommended for individuals with mitral valve prolapse or other cardiac features. Women planning pregnancy benefit from preconception counselling addressing potential complications and management strategies. NHS care typically coordinates through general practice with specialist input from rheumatology, clinical genetics, and pain management services as needed. Patient support organisations such as Ehlers-Danlos Support UK provide valuable resources and peer support for managing this chronic condition.
UK care pathway
Within the UK NHS, individuals with suspected hEDS typically access specialist services through GP referral to rheumatology or clinical genetics departments with expertise in connective tissue disorders. Whilst hEDS does not currently feature on the NHS Genomic Medicine Service National Genomic Test Directory with a specific R-code (as no causative gene has been identified), patients may be referred under broader categories for heritable disorders of connective tissue when genetic testing is needed to exclude other Ehlers-Danlos subtypes or overlapping conditions. For clinical coding purposes, hEDS is classified under ICD-10 code Q79.6 (Ehlers-Danlos syndrome).
Clinical genetics services offer diagnostic assessment using the 2017 International Classification criteria, family history evaluation, and access to genetic counsellors who can discuss inheritance patterns and implications for relatives. Following diagnosis, ongoing management typically involves coordination between general practice and relevant specialists including rheumatology, physiotherapy, pain management, and cardiology as individual needs dictate. Some NHS regions have developed integrated services for hypermobility disorders bringing together multiple disciplines, though access varies geographically. Patient advocacy organisations such as Ehlers-Danlos Support UK provide additional resources, support groups, and information to complement NHS clinical care.
Frequently asked questions
Can genetic testing diagnose hypermobile Ehlers-Danlos syndrome?
No genetic test currently exists for hypermobile type EDS because the causative gene has not been identified. Diagnosis relies entirely on clinical examination using established criteria. Genetic testing may be offered to exclude other EDS subtypes where specific genes are known, particularly if clinical features suggest classical or vascular types.
Will my joint hypermobility get worse as I age?
Joint hypermobility often decreases with age as tissues naturally stiffen, though pain and functional limitations may paradoxically increase due to accumulated joint damage and early osteoarthritis. Regular physiotherapy to maintain muscle strength and joint stability can help minimise long-term complications. Individual progression varies considerably.
Is it safe to exercise with hypermobile Ehlers-Danlos syndrome?
Exercise is generally beneficial and forms a key part of management, though the type and intensity require careful consideration. Low-impact activities that build muscle strength without excessive joint stress are typically recommended, such as swimming, cycling, and supervised resistance training. A physiotherapist experienced with hypermobility can develop an appropriate programme that strengthens stabilising muscles whilst avoiding injury.
Can hypermobile EDS affect pregnancy?
Pregnancy can increase symptoms due to hormonal effects on already lax connective tissue. Some research indicates higher rates of pelvic girdle pain, premature membrane rupture, and postpartum haemorrhage in women with hEDS. However, many women with hEDS have successful pregnancies. Preconception counselling and specialist obstetric input help manage potential complications, and physiotherapy can address pregnancy-related musculoskeletal symptoms.
Why do I feel so tired all the time?
Severe fatigue affects many people with hEDS and likely has multiple contributing factors including the physical effort of stabilising hypermobile joints, chronic pain disrupting sleep quality, autonomic dysfunction, and possibly direct effects of the underlying connective tissue abnormality. Management strategies including pacing activities, optimising sleep, treating pain, and graded exercise programmes may help, though fatigue often remains challenging to manage fully.
References
- Engelbert RH, Juul-Kristensen B, Pacey V. The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. American journal of medical genetics. Part C, Seminars in medical genetics. 2017. PMID: 28306230
- Hakim A, De Wandele I, O'Callaghan C. Chronic fatigue in Ehlers-Danlos syndrome-Hypermobile type. American journal of medical genetics. Part C, Seminars in medical genetics. 2017. PMID: 28186393
- Hakim A, O'Callaghan C, De Wandele I. Cardiovascular autonomic dysfunction in Ehlers-Danlos syndrome-Hypermobile type. American journal of medical genetics. Part C, Seminars in medical genetics. 2017. PMID: 28160388
- Syx D, De Wandele I, Rombaut L. Hypermobility, the Ehlers-Danlos syndromes and chronic pain. Clinical and experimental rheumatology. 2017. PMID: 28967365
- Williams SE, Tran ST, Lynch-Jordan A. Healthcare utilization among youth with Ehlers-Danlos syndrome hypermobile type. American journal of medical genetics. Part A. 2022. PMID: 34989147
- Hakimi A, Bergoin C, Mucci P. Immediate and 6-week after effects of a rehabilitation program for Ehlers-Danlos syndrome hypermobile type patients: A retrospective study. American journal of medical genetics. Part A. 2020. PMID: 32738018
- Remvig L, Flycht L, Christensen KB. Lack of consensus on tests and criteria for generalized joint hypermobility, Ehlers-Danlos syndrome: hypermobile type and joint hypermobility syndrome. American journal of medical genetics. Part A. 2014. PMID: 24464988
- Hakimi A, Bergoin C, Mucci P. What are the most important symptoms to assess in hypermobile Ehlers-Danlos syndrome? A questionnaire study based on the Delphi technique. Disability and rehabilitation. 2022. PMID: 34927503