Ehlers-Danlos syndromes (EDS) encompass a group of inherited disorders that primarily affect the body’s connective tissues. These tissues are crucial for providing structure and support to various parts of the body, including the skin, joints, blood vessels, and internal organs. Diagnosing EDS can be complex due to the variability in symptoms and the overlap with other conditions. This article will delve into the Ehlers Danlos Diagnosis Criteria, helping to clarify how these conditions are identified and understood.
Symptoms and Presentation of Ehlers-Danlos Syndromes
EDS presents with a range of symptoms that can differ significantly between individuals and across the various types of EDS. Common symptoms include:
- Joint Hypermobility: An unusually large range of motion in joints, often leading to dislocations and instability. This is related to joint hypermobility syndrome.
- Skin Elasticity: Skin that can be stretched further than normal and returns to its original shape after being released.
- Skin Fragility: Skin that is easily damaged, tears, or bruises, and may heal slowly, often resulting in abnormal scarring.
The impact of EDS varies widely. Some individuals experience mild symptoms that minimally affect their daily lives, while others face significant disability due to the severity of their condition. The underlying cause of EDS is genetic defects that weaken connective tissues. These genetic faults can be inherited from one or both parents, or they can occur spontaneously. Certain severe forms of EDS can be life-threatening.
Main Categories and Ehlers Danlos Diagnosis Criteria
There are currently 13 recognized types of EDS, each with specific diagnostic criteria. Hypermobile EDS (hEDS) is the most prevalent, but other types like classical EDS (cEDS), vascular EDS (vEDS), and kyphoscoliotic EDS (kEDS) also exist, each with distinct diagnostic features. For detailed information on all types, resources like The EDS Support UK website are invaluable.
Hypermobile EDS (hEDS) Diagnosis Criteria
Diagnosing hEDS is particularly challenging as there are no specific genetic markers currently identified. The diagnosis relies heavily on clinical evaluation based on established Ehlers Danlos diagnosis criteria:
- Joint Hypermobility: Assessed using the Beighton score, which measures joint flexibility in various parts of the body.
- Systemic Features of Connective Tissue Disorder: This includes a detailed assessment of symptoms across multiple body systems, such as skin findings, unexplained pain, fatigue, and gastrointestinal issues.
- Exclusion of Other Conditions: Ruling out other conditions that might present with similar symptoms, such as other heritable connective tissue disorders or rheumatological conditions.
Symptoms commonly associated with hEDS include:
- Pronounced joint hypermobility and frequent joint dislocations.
- Chronic joint pain (joint pain) and clicking sensations in joints.
- Persistent fatigue.
- Easy bruising.
- Digestive problems like heartburn and constipation.
- Dizziness and postural orthostatic tachycardia syndrome (POTS), indicated by increased heart rate upon standing.
- Potential internal organ complications such as mitral valve prolapse or pelvic organ prolapse.
- Urinary incontinence.
Classical EDS (cEDS) Diagnosis Criteria
Classical EDS diagnosis criteria focus more on skin and joint findings. While joint hypermobility is present, skin features are more prominent in differentiating cEDS:
- Major Criteria:
- Skin hyperextensibility and atrophic scarring.
- Generalized joint hypermobility.
- Minor Criteria: Include velvety skin, skin fragility, molluscoid pseudotumors, subcutaneous spheroids, hernias, and epicanthic folds.
Individuals with cEDS may experience:
- Joint hypermobility and dislocations.
- Stretchy, velvety skin.
- Fragile skin prone to splitting, especially on areas like the forehead, knees, and elbows.
- Slow wound healing leading to wide, atrophic scars.
- Hernias and organ prolapse.
Vascular EDS (vEDS) Diagnosis Criteria
Vascular EDS is considered the most severe form due to its impact on blood vessels and internal organs. Ehlers Danlos diagnosis criteria for vEDS are critical for early identification due to the risk of life-threatening complications:
- Major Criteria:
- Arterial rupture or dissection.
- Spontaneous rupture of the bowel or uterus in the absence of prior surgery or severe trauma.
- Family history of vEDS.
- Characteristic facial features.
- Minor Criteria: Include easy bruising, thin skin with visible veins, acrogeria, clubfoot, joint hypermobility (primarily in small joints), tendon/muscle rupture, pneumothorax, and varicose veins.
Symptoms of vEDS may include:
- Extreme bruising tendency.
- Thin, translucent skin with visible blood vessels, particularly on the chest and legs.
- Fragile blood vessels susceptible to tearing, leading to severe internal bleeding.
- Risk of organ rupture, including bowel, uterus, and lung collapse.
- Hypermobility limited to fingers and toes, distinctive facial features (thin nose and lips, large eyes, small earlobes), varicose veins, and delayed wound healing.
Kyphoscoliotic EDS (kEDS) Diagnosis Criteria
Kyphoscoliotic EDS diagnosis criteria are centered around skeletal and muscular issues, alongside connective tissue manifestations:
- Major Criteria:
- Congenital muscle hypotonia.
- Progressive scoliosis from birth.
- Joint hypermobility.
- Minor Criteria: Include fragile sclerae, marfanoid habitus, tissue fragility, and others.
Individuals with kEDS may present with:
- Spinal curvature (scoliosis) that begins early in life and worsens over time.
- Generalized joint hypermobility.
- Low muscle tone (hypotonia) from infancy, causing delays in motor development.
- Fragile eyes susceptible to damage.
- Soft, stretchy skin that bruises easily and scars.
Hypermobility Spectrum Disorder (HSD)
It’s important to distinguish EDS from Hypermobility Spectrum Disorder (HSD). Some individuals exhibit hypermobility-related problems but do not meet the full Ehlers Danlos diagnosis criteria for any specific type of EDS. These individuals may be diagnosed with HSD. HSD management is often similar to hEDS, focusing on symptom management and physical therapy.
Seeking Medical Advice and Ehlers Danlos Diagnosis
If you experience multiple symptoms suggestive of EDS, consulting a General Practitioner (GP) is the crucial first step. Isolated symptoms like joint hypermobility, common in about 1 in 30 people, are less likely to indicate EDS without other related symptoms.
A GP may refer you to a rheumatologist for joint-related issues, or to a genetics service if a rarer type of EDS is suspected. Genetic specialists will review medical and family history, evaluate symptoms, and may order genetic blood tests to confirm specific EDS types, particularly for vEDS or kEDS where genetic testing is more definitive. For complex cases, specialized EDS diagnostic services are available, such as those in Sheffield or London, as referenced by Annabelle’s Challenge website.
Management and Living with EDS
Currently, there is no cure for EDS. Management focuses on alleviating symptoms and preventing complications. A multidisciplinary healthcare team is often involved, which may include:
- General practitioners
- Rheumatologists
- Physiotherapists
- Pain management specialists
- Geneticists
- Cardiologists (for vEDS)
- Gastroenterologists
Self-Referral for Support
Individuals diagnosed with EDS can often self-refer to various support services without needing a GP referral. To find local services:
- Inquire at your GP surgery reception.
- Check your GP surgery website.
- Contact your local Integrated Care Board (ICB) – find your local ICB.
- Search online for NHS Ehlers-Danlos syndromes treatment in your area.
Lifestyle Adjustments
Managing daily life with EDS involves careful consideration of activities to minimize joint strain and injury risk. However, it’s equally important to maintain an active and fulfilling life. Recommendations vary based on the EDS type and individual symptoms:
- Avoidance of high-impact activities like heavy lifting and contact sports may be advised.
- Protective measures and joint-friendly techniques may be necessary for certain activities.
- Low-impact exercises such as swimming or pilates are often recommended to maintain fitness.
- Energy conservation and activity pacing strategies are helpful for managing fatigue.
Inheritance Patterns in EDS
EDS conditions are inherited genetically. The primary inheritance patterns are:
- Autosomal Dominant Inheritance: Common in hypermobile, classical, and vascular EDS. A single copy of the faulty gene from one parent is sufficient to inherit EDS, resulting in a 50% chance of passing it to each child.
- Autosomal Recessive Inheritance: Seen in kyphoscoliotic EDS. Requires inheriting the faulty gene from both parents, giving a 25% chance of developing EDS for each child.
It’s crucial to note that individuals with EDS can only pass on the same type of EDS to their offspring. However, symptom severity can vary significantly within families.
Further Resources
For more comprehensive information, support, and advice on EDS, numerous resources are available online.
Data Collection for Research
If diagnosed with EDS, your clinical team may share your data with the National Congenital Anomaly and Rare Diseases Registration Service to advance research and treatment for EDS. You have the option to opt out of this registry at any time.
Page last reviewed: 04 October 2022
Next review due: 04 October 2025
