Ehlers-Danlos Syndrome (EDS)

It is a group of 13 diseases that are caused by alterations in 19 genes. characterized by producing joint hyperlaxity, very elastic skin and blood vessels that are easily damaged. Up to 13 clinical types of the disease are known to be caused by alterations in 19 genes.

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by extremely lax joints, hyperextensible skin that bruises easily, and frequently damaged 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 causative genes that are mainly related to the synthesis and maintenance of the colon and extracellular tissues. Cholagen provides strength and plays a structural role in the skin, bones, blood vessels and internal organs.

The most common SED is the hypermethylsmobile type (hEDS), the genetic basis of which is still unknown at present. The classic Ehlers-Danlos syndrome (cEDS), which has an incidence of one person per 10,000 to 20,000 people, is the second most common type of EDS.

The incidence of SED 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 EDS syndrome.

The main symptoms of classic Ehlers-Danlos syndrome (cEDS) include generalized joint hypermobility and joint instability, hyperextensible and fragile skin, delayed scarring and joint instability;The most common symptoms include generalized joint hypermobility and joint instability, hyperextensible and fragile skin, delayed wound healing, spontaneous or minor traumatic bruising, and chronic pain. Patients with EDS are more prone to dislocations and sprains and in some more severe cases, spontaneous vascular or visceral rupture.

Disease management

Improving joint stability and reducing the risk of subluxations, dislocations and pain can be achieved by 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. Resistance exercise may exacerbate joint instability and pain. In general, increasing the number of repetitions is preferable to increasing resistance. On the other hand, high-impact sports should be avoided or precautions taken to prevent subluxations/dislocations and osteoarthritis.

The use of pharmaceuticals is also frequently resorted to for pain relief. Calcium, vitamin D and low-impact weight-bearing exercise should be encouraged to maximize density to avoid long-term complications as much as possible. Other symptoms, hematologic, gastrointestinal and cardiovascular, should be treated specifically if present.

Genes analyzed

ADAMTS2 B4GALT7 C1S COL1A1 COL1A2 COL3A1 COL5A1 FKBP14

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.