Ehlers–Danlos syndromes (EDS) are a group of genetic connective tissue disorders. Symptoms may include loose joints, joint pain, stretchy skin, and abnormal scar formation. These can be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
EDSs are due to a mutation of some of more than a dozen different genes. The specific gene affected determines the specific EDS.
Mutations in these genes can cause EDSs:
Fibrous proteins: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, and TNXB
Enzymes: ADAMTS2, PLOD1, B4GALT7, DSE, and D4ST1/CHST14
Diagnosis is often based on symptoms and confirmed with genetic testing or a skin biopsy. People may be misdiagnosed with hypochondriasis, depression, or chronic fatigue syndrome.
Individual with EDS showing hyper-mobile fingers, including the “swan-neck” malformation on the 2nd-5th digits, and a hyper-mobile thumb
Individual with an EDS displaying hypermobile thumb
- Individual with EDS displaying skin hyperelasticity weak connective tissue causes fragile skin that tears easily, atrophic “cigarette paper” scars, and easy bruising. Redundant skin folds, especially on the eyelids also happen. Molluscoid pseudotumors, especially on pressure points. Petechiae, subcutaneous spheroids, livedo reticularis, and piezogenic papules are less common. In vascular EDS, thin, translucent, and extremely fragile skin that tears easily is also a symptom.
No cure is known. Treatment is supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints. While some disorders result in a normal life expectancy, those that affect blood vessels generally result in a shorter life expectancy.
EDSs affects at least one in 5,000 people globally. 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 from Denmark and Henri-Alexandre Danlos from France, who described them at the turn of the 20th century.