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reference materials

Genetics of Ehlers-Danlos Syndrome Treatment & Management

key information

source: Medscape

year: 2015

authors: Germaine L Defendi


A correct diagnosis in patients with Ehlers-Danlos syndrome (EDS) is critical and must be determined if possible.
Biochemical studies on collagen molecules are possible with cultured skin fibroblasts to confirm vascular type EDS (type IV), arthrochalasia type EDS (type VII A and B), and dermatosparaxis type EDS (type VIIC). A diagnostic assay of urinary pyridinoline cross-links identifies the kyphoscoliosis type EDS (type VI). Therefore, if the clinical diagnosis suggests the vascular type, kyphoscoliosis type, or a subtype of arthrochalasia type EDS, perform biochemical or molecular studies.
Once a diagnosis of EDS is made, preventative measures should be taken. Wearing a MedicAlert bracelet identifying a patient with EDS can help in case of a life-threatening emergency, such as arterial rupture or carotid-cavernous fistula.

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