EDS

EDS stands for Ehlers-Danlos Syndromes, a collective name for a rare group of hereditary connective tissue disorders. Thirteen different types have been identified within the latest classification from March 2017. The most common types are Classic EDS (cEDS) and hypermobile EDS (hEDS). Because EDS consists of thirteen subtypes, the differences in symptoms are significant from patient to patient.

Main features are: hypermobility, stretchy soft skin, connective tissue weakness, bruising easily and delayed wound healing. Because of these characteristics, pain and fatigue are common complaints. The degree of severity varies per subtype, but also per person.

EDS is an inherited multi-system disease. This means that the complaints are not only visible in the connective tissue of joints. There is connective tissue throughout the body, connective tissue that is less well built up by EDS. As a result, you often see that other diagnoses arise in addition to EDS, such as heart complaints, digestive disorders, breathing problems or eye complaints. EDS is a chronic condition with a progressive appearance. The congenital abnormality in itself does not increase in severity, but its manifestations do. An accumulation of (sub) luxations, microtrauma or premature osteoarthritis and other additional diagnoses can deteriorate the general condition of a patient further and further. This also means that the complaints may expand and / or worsen while a patient is getting older.

The cause of Ehlers-Danlos syndromes is usually an abnormality in the collagen. Collagen is the protein component of connective tissue and cartilage and is produced by connective tissue cells. If there is an error in the genetic code of the collagen, then the connective tissue produces abnormal collagen. This abnormal collagen then forms part of the connective tissue and ensures that this connective tissue has an abnormal composition. As a result, it can easily tear or it is over-stretchable.

Zjuul’s condition is hypermobile EDS combined with damage in the ligaments of his neck. This is called Craniocervical instability (neck instability or CCI), CCI occurs in 1 in 15 EDS patients.