Ehlers–Danlos syndrome
Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders. Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis. The current classification was last updated in 2017, when a number of rarer forms of EDS were added.
| Ehlers–Danlos syndrome | |
|---|---|
| Individual with EDS displaying skin hyperelasticity | |
| Pronunciation |
|
| Specialty | Medical genetics |
| Symptoms | Overly flexible joints, stretchy skin, abnormal scar formation |
| Complications | Aortic dissection, joint dislocations, osteoarthritis, amplified musculoskeletal pain syndrome |
| Usual onset | Childhood or teens depending on type. |
| Duration | Lifelong |
| Types | Hypermobile, classic, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis, brittle cornea syndrome, others |
| Causes | Genetic |
| Risk factors | Family history |
| Diagnostic method | Genetic testing, physical examination |
| Differential diagnosis | Marfan syndrome, cutis laxa syndrome, familial joint hypermobility syndrome, Loeys–Dietz syndrome, hypermobility spectrum disorder |
| Treatment | Supportive |
| Prognosis | Depends on specific disorder |
| Frequency | 1 in 5,000 |
EDS occurs due to variations of more than 19 genes that are present at birth. The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown. Some cases result from a new variation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. Typically, these variations result in defects in the structure or processing of the protein collagen or tenascin.
Diagnosis is often based on symptoms and confirmed by genetic testing or skin biopsy, particularly with hEDS, but people may initially be misdiagnosed with hypochondriasis, depression, or myalgic encephalomyelitis/chronic fatigue syndrome. Genetic testing can be used to confirm all other types of EDS.
A cure is not yet known and treatment is supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints. Some forms of EDS result in a normal life expectancy, but those that affect blood vessels generally decrease it. All forms of EDS can result in fatal outcomes for some patients.
While hEDS affects at least one in 5,000 people globally, other types occur at lower frequencies. The prognosis depends on the specific disorder. Excess mobility was first described by Hippocrates in 400 BC. The syndromes are named after two physicians, Edvard Ehlers and Henri-Alexandre Danlos, who described them at the turn of the 20th century.