Focus: find out all about Ehlers-Danlos Syndrome (EDS)
What is Ehlers-Danlos Syndrome (EDS)?
Ehlers-Danlos Syndrome is a group of inheritable disorders that affect the quality of connective tissues supporting the skin, bones, blood vessels and organs. Genetic changes affect connective tissues by altering collagen in the body.
What's more, depending on the type of EDS, the gene causing EDS may have been inherited from one parent or both parents.
What is connective tissue and collagen?
Collagen is a protein found throughout the body, where it supports, protects and provides structure to other parts of the body. And is the main building block of the body.
EDS is caused by changes in the genes that affect the structure and function of collagen. It causes changes in the amount, size, shape and organisation of collagen.
Hypermobility is the most common form of EDS
Hypermobility syndrome is the most common form of EDS (hEDS). Making up 90% of EDS cases. Joint hypermobility, or 'double-jointedness', is typical. But other body systems may also be affected, such as the heart and arteries, nerves, skin, muscle and spine.
Other conditions include generalised Hypermobility Spectrum Disorder (G-HSD), Loeys–Dietz and Marfan syndromes and Osteogenesis Imperfecta, with EDS and G-HSD the most common.
Symptoms can range from mild to severe. For example, chronic and widespread pain, fatigue, nerve and gut problems are common. Affected people will often be treated for other illnesses, such as irritable bowel syndrome and indigestion.
Just how EDS and the other disorders are linked to vascular compression syndromes is not currently known. With more research needed. In fact, vascular compression is mostly picked up when people are scanned for another reason. And, therefore, show no signs of vascular compression at all.
How to diagnose EDS
The genetic cause of the most common EDS subtype – hEDS – has not yet been found. Therefore, there is no genetic test currently available. As a result, diagnosis relies on certain diagnostic criteria. This includes the Beighton Score to assess for hypermobility. Formal diagnosis is by a rheumatologist.
Management of symptoms
There is no cure for EDS. Management involves addressing each person’s symptoms. Physiotherapy and pain management, as well as using equipment, such as splints for hypermobile joints, are all helpful therapies. Those that help to improve quality of life are essential. Monitoring of blood vessels by ultrasound scan is beneficial for some sub-categories of EDS.
Hormones, such as progesterone and oestrogen can heavily affect those with EDS. In addition, prolonged menstruation and dysmenorrhea is often reported by women with EDS.
Increasing awareness about EDS is essential for early diagnosis and better support.
Finally, advances in genetic sequencing and understanding of collagen biology offer hope for targeted therapies that could help reduce symptoms and improve outcomes for those with EDS.
