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Ehlers–Danlos Syndrome

Introduction

Ehlers–Danlos syndrome (EDS) is a group of 13 genetic connective tissue disorders characterized by symptoms such as loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. The current classification was updated in 2017, identifying several rare forms of EDS.

Causes and Genetics

EDS results from variations in more than 19 genes, affecting the structure or processing of collagen or tenascin. These variations can be inherited dominantly or recessively, or occur spontaneously. Hypermobile EDS (hEDS) has no known genetic marker yet, though research is ongoing.

Types of EDS

Hypermobile EDS (hEDS)

hEDS is characterized by joint hypermobility, chronic pain, and soft, smooth skin that bruises easily. It is the most common type of EDS and is diagnosed based on clinical criteria rather than genetic testing. Pregnant individuals with hEDS face increased risks of complications.

Classical EDS (cEDS)

Classical EDS involves extremely elastic, fragile skin and hypermobile joints. Variations in the COL5A1 and COL5A2 genes cause this type, leading to difficulties in wound healing and motor development delays.

Vascular EDS (vEDS)

Vascular EDS features thin, translucent skin, fragile blood vessels, and a distinct facial appearance. It is caused by variations in the COL3A1 gene and is associated with significant risk of arterial rupture and organ fragility.

Other Types

Other types include kyphoscoliosis EDS (kEDS), arthrochalasia EDS (aEDS), dermatosparaxis EDS (dEDS), brittle cornea syndrome (BCS), classical-like EDS (clEDS), spondylodysplastic EDS (spEDS), musculocontractural EDS (mcEDS), myopathic EDS (mEDS), periodontal EDS (pEDS), and cardiac-valvular EDS (cvEDS). Each type has unique genetic causes and specific clinical presentations.

Signs and Symptoms

Musculoskeletal

Symptoms include hyperflexible, unstable joints prone to dislocations and early-onset osteoarthritis. Spine deformities like scoliosis and kyphosis are common. Chronic pain and muscle issues, such as myalgia and arthralgia, often occur.

Individual with EDS showing hypermobile fingers, including the 'swan-neck' malformation on the 2nd–5th digits, and a hypermobile thumb

Skin

Skin symptoms include abnormal elasticity, fragility, and easy bruising. Specific subtypes show distinct features like redundant skin folds or molluscoid pseudotumors.

Individual with EDS displaying skin hyperelasticity

Cardiovascular

Cardiovascular complications include valvular heart disease, arterial rupture, and autonomic dysfunction such as postural orthostatic tachycardia syndrome.

Urogynaecological and Gastrointestinal

Patients may experience pelvic organ prolapse, urinary tract issues, and gastrointestinal motility problems. There is a higher incidence of inflammatory bowel diseases and structural issues like hernias.

Neurological and Other Manifestations

Neurological symptoms include chronic headaches and craniocervical instability. Ophthalmological issues like keratoconus and retinal detachment are also common. Other manifestations include flat feet, dental problems, and mast cell disorders.

Gorlin's sign in a case of EDS

Diagnosis

Diagnosis involves a combination of medical history evaluation, clinical observation, and genetic testing. The Beighton criteria assess joint hypermobility. Differential diagnosis is important to distinguish EDS from similar disorders like Marfan syndrome and Loeys–Dietz syndrome.

Treatment and Management

There is no cure for EDS; treatment is supportive. Physical therapy, bracing, and pain management are crucial. Orthopaedic instruments help prevent joint damage. Medications, including NSAIDs and opioids, may be prescribed for pain. Surgical interventions are considered when necessary but carry high risks due to tissue fragility.

Prognosis and Complications

Prognosis varies by type, with some forms leading to severe restrictions in daily life. Vascular EDS has a high risk of fatal complications. Life expectancy is generally normal for most types, except those affecting blood vessels.

The collagen fibril and EDS: (a) Normal collagen fibrils are of uniform size and spacing. Fibrils from a person with dermatosparaxis (b) show dramatic alterations in fibril morphology with severe effects on the tensile strength of connective tissues. A person with classical EDS (c) shows composite fibrils. Fibrils from a TNX-deficient person (d) are uniform in size and no composite fibrils are seen. TNX-null (e) fibrils are less densely packed and not as well aligned to neighbouring fibrils


Self-assessment MCQs (single best answer)

What is the primary cause of Ehlers–Danlos syndrome (EDS)?


Which of the following symptoms is commonly associated with hypermobile EDS (hEDS)?

[mcq 284.10] Clubfoot [wrong 284.10] No, clubfoot is not a common symptom of hEDS. [end feedback 284.10]

Which gene variation is most commonly associated with vascular EDS (vEDS)?
[mcq 284.11] COL5A1 [wrong 284.11] No, COL5A1 mutations are associated with classical EDS, not vascular EDS. [end feedback 284.11]
[mcq 284.12] PLOD1 [wrong 284.12] No, PLOD1 mutations are linked to kyphoscoliotic EDS, not vascular EDS. [end feedback 284.12]
[mcq 284.13] COL3A1 [right 284.13] Correct! COL3A1 mutations are most commonly associated with vascular EDS. [end feedback 284.13]
[mcq 284.14] ADAMTS2 [wrong 284.14] No, ADAMTS2 mutations are associated with dermatosparaxis EDS. [end feedback 284.14]
[mcq 284.15] TNXB [wrong 284.15] No, TNXB mutations are related to tenascin-X deficiency EDS. [end feedback 284.15]


What is a significant cardiovascular complication of EDS?
[mcq 284.16] Mitral valve prolapse [right 284.16] Correct! Mitral valve prolapse is a significant cardiovascular complication associated with EDS. [end feedback 284.16]
[mcq 284.17] Coronary artery disease [wrong 284.17] No, coronary artery disease is not specifically associated with EDS. [end feedback 284.17]
[mcq 284.18] Hypertension [wrong 284.18] No, hypertension is not a significant cardiovascular complication of EDS. [end feedback 284.18]
[mcq 284.19] Aortic stenosis [wrong 284.19] No, aortic stenosis is not commonly linked with EDS. [end feedback 284.19]
[mcq 284.20] Congestive heart failure [wrong 284.20] No, congestive heart failure is not specifically related to EDS. [end feedback 284.20]


Which of the following is NOT a type of Ehlers–Danlos syndrome?
[mcq 284.21] Kyphoscoliosis EDS (kEDS) [wrong 284.21] No, kyphoscoliosis EDS is a recognised type of EDS. [end feedback 284.21]
[mcq 284.22] Classical EDS (cEDS) [wrong 284.22] No, classical EDS is a recognised type of EDS. [end feedback 284.22]
[mcq 284.23] Hypermobile EDS (hEDS) [wrong 284.23] No, hypermobile EDS is a recognised type of EDS. [end feedback 284.23]
[mcq 284.24] Brittle bone EDS (bbEDS) [right 284.24] Correct! Brittle bone EDS is not a recognised type of EDS. [end feedback 284.24]
[mcq 284.25] Vascular EDS (vEDS) [wrong 284.25] No, vascular EDS is a recognised type of EDS. [end feedback 284.25]


Which diagnostic method is often used to confirm a diagnosis of EDS?
[mcq 284.26] Blood culture [wrong 284.26] No, blood cultures are not used to diagnose EDS. [end feedback 284.26]
[mcq 284.27] Skin biopsy [right 284.27] Correct! Skin biopsy is often used to confirm a diagnosis of EDS. [end feedback 284.27]
[mcq 284.28] X-ray [wrong 284.28] No, X-rays are not used to diagnose EDS. [end feedback 284.28]
[mcq 284.29] MRI [wrong 284.29] No, MRI is not typically used to diagnose EDS. [end feedback 284.29]
[mcq 284.30] Electrocardiogram [wrong 284.30] No, electrocardiograms are not used to diagnose EDS. [end feedback 284.30]


Which symptom is commonly seen in classical EDS (cEDS)?
[mcq 284.31] Thin, translucent skin [wrong 284.31] No, thin, translucent skin is more commonly seen in vascular EDS. [end feedback 284.31]
[mcq 284.32] Severe joint pain [wrong 284.32] No, severe joint pain is not specific to classical EDS. [end feedback 284.32]
[mcq 284.33] Severe hypotonia at birth [wrong 284.33] No, severe hypotonia at birth is not typical of classical EDS. [end feedback 284.33]
[mcq 284.34] Extremely elastic skin [right 284.34] Correct! Extremely elastic skin is a common symptom of classical EDS. [end feedback 284.34]
[mcq 284.35] Premature ageing of the skin of hands and feet [wrong 284.35] No, premature ageing of the skin of hands and feet is not a symptom of classical EDS. [end feedback 284.35]


Which form of EDS is characterised by severe joint hypermobility and congenital hip dislocation?
[mcq 284.36] Kyphoscoliosis EDS (kEDS) [wrong 284.36] No, kyphoscoliosis EDS is not characterised by these symptoms. [end feedback 284.36]
[mcq 284.37] Hypermobile EDS (hEDS) [wrong 284.37] No, hypermobile EDS does not typically include congenital hip dislocation. [end feedback 284.37]
[mcq 284.38] Arthrochalasia EDS (aEDS) [right 284.38] Correct! Arthrochalasia EDS is characterised by severe joint hypermobility and congenital hip dislocation. [end feedback 284.38]
[mcq 284.39] Classical EDS (cEDS) [wrong 284.39] No, classical EDS does not include congenital hip dislocation. [end feedback 284.39]
[mcq 284.40] Vascular EDS (vEDS) [ wrong 284.40] No, vascular EDS is not characterised by these symptoms. [end feedback 284.40]


What is the recommended treatment for managing chronic pain in EDS patients?
[mcq 284.41] High-dose opioids [wrong 284.41] No, high-dose opioids are not recommended due to the risk of dependency and other complications. [end feedback 284.41]
[mcq 284.42] Surgery [wrong 284.42] No, surgery is not typically recommended for managing chronic pain in EDS. [end feedback 284.42]
[mcq 284.43] Cognitive behavioural therapy [right 284.43] Correct! Cognitive behavioural therapy is recommended for managing chronic pain in EDS patients. [end feedback 284.43]
[mcq 284.44] Blood transfusion [wrong 284.44] No, blood transfusion is not a treatment for chronic pain in EDS. [end feedback 284.44]
[mcq 284.45] Long-term NSAIDs [wrong 284.45] No, long-term NSAIDs are not typically recommended due to potential side effects. [end feedback 284.45]


Which of the following is a common complication during pregnancy for individuals with hEDS?
[mcq 284.46] Increased risk of uterine cancer [wrong 284.46] No, there is no increased risk of uterine cancer in individuals with hEDS during pregnancy. [end feedback 284.46]
[mcq 284.47] Severe preeclampsia [wrong 284.47] No, severe preeclampsia is not a common complication specifically associated with hEDS. [end feedback 284.47]
[mcq 284.48] Pre-labour rupture of membranes [right 284.48] Correct! Pre-labour rupture of membranes is a common complication during pregnancy for individuals with hEDS. [end feedback 284.48]
[mcq 284.49] Gestational diabetes [wrong 284.49] No, gestational diabetes is not specifically associated with hEDS. [end feedback 284.49]
[mcq 284.50] Hyperemesis gravidarum [wrong 284.50] No, hyperemesis gravidarum is not specifically related to hEDS. [end feedback 284.50]


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