Ehlers-Danlos Syndrome (EDS)
Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by extremely loose joints, hyperextensible skin that bruises easily, and fragile blood vessels, which was first described by Hippocrates in 400 BC.
The most recent international classification of EDS distinguishes 13 types of EDS with 19 different causal genes that are primarily related to the synthesis and maintenance of collagen and extracellular tissues. Collagen provides strength and plays a structural role in the skin, bones, blood vessels, and internal organs.
The most common EDS is hypermobile type (hEDS), whose genetic basis is still unknown today. Classic Ehlers-Danlos syndrome (cEDS), which has an incidence of one person per 10,000 to 20,000 people, is the second most frequent type of EDS.
The incidence of EDS is approximately 1 case per 5,000 people, with the hypermobile type being the most common, followed by the classic and vascular types.
Symptoms
Vascular fragility with easy bruising is common in all patients with EDS, but the severity of symptoms varies from mild to severe and debilitating, and depends on the specific type of Ehlers-Danlos syndrome.
The main symptoms of classical Ehlers-Danlos syndrome (cEDS) include generalized joint hypermobility and joint instability, hyperextensible and fragile skin, delayed wound healing, spontaneous bruising or bruising from minimal trauma, and chronic pain. Patients with EDS have a greater propensity to suffer dislocations and sprains, and in some more severe cases, spontaneous vascular or visceral rupture.
Disease management
Improvement of joint stability and reduction of the risk of subluxations, dislocations, and pain can be achieved through low-resistance exercises to increase muscle tone (subconscious muscle contraction at rest), such as walking, cycling, low-impact aerobics, and swimming. Both trunk and limb muscle tone should be improved. Performing resistance exercises can exacerbate joint instability and pain. In general, it is preferable to increase repetitions rather than increase resistance. On the other hand, high-impact sports should be avoided or precautions taken to avoid subluxations/dislocations and osteoarthritis.
Medication is also frequently used to alleviate pain. Calcium, vitamin D, and low-impact weight-bearing exercise should be encouraged to maximize bone density and thus avoid long-term complications as much as possible. Other symptoms, hematological, gastrointestinal, and cardiovascular, should be treated specifically if present.
Genes analyzed
Bibliography
Cevallos B C, Vargas E, González B S, et al. Diagnostic suspicion of vascular Ehlers Danlos syndrome: case report and literature review [Suspected vascular ehlers danlos syndrome. Case report]. Rev Med Chil. 2018 Aug;146(8):938-942.
Levy HP. Hypermobile Ehlers-Danlos Syndrome. 2004 Oct 22 [updated 2018 Jun 21]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26.
Symoens S, Syx D, Malfait F, et al. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat. 2012 Oct;33(10):1485-93.
