What is Ehlers-Danlos Syndrome?
Ehlers-Danlos Syndromes are a group of disorders that share a number of common features such as; easy bruising, joint hypermobility, skin that stretches easily and weakness of tissues.
Ehlers- Danlos syndromes are inherited in the genes that are passed from parent to child. They are categorised according to both the forms of genetic transmission and the varied features.
What are the types of Ehlers-Danlos Syndromes?
The Classical type of Ehlers-Danlos usually presents as joint hypermobility and skin laxity and fragility. The fragile nature of the skin is prone to bruising and tearing easily. Joint instability can lead to commonly occurring strains, sprains and dislocations. This classical type is directly passed on from parent to child.
Hypermobility type is as the name suggests, the type where the major factor is joint hypermobility. Any joint in the person’s body can be affected and results in frequent dislocations.
The vascular type of Ehlers-Danlos syndrome is arguably the most severe as it can cause spontaneous rupture of arteries and bowel which can lead to death. Veins can be visible through the skin and the degree of skin laxity can be varied. Clubfoot can be present at birth. It is most commonly directly passed on from one parent to child, but it can also be recessive meaning that it might only be found in one generation of members of the same family, meaning that the individual must inherit 2 copies of the mutation, one from each parent.
Fragile eyes, significant skin and joint laxity and severe curving of the spine are all traits of the Kyphoscoliosis type. Like the vascular type of Ehlers-Danlos, the kyphoscoliosis type can be passed from parent to child and can be recessive.
Patients with the arthrochalisa type are short in height and suffer from severe joint laxity and dislocations. The level at which the skin is affected by the syndrome is quite varied, and a skin biopsy can be used for diagnosis. Dominant and recessive inheritance occurs with this type.
A rare form of Ehlers-Danlos Syndrome is the dermatosparaxis type. This type can also be diagnosed with a skin biopsy. Patients with this type of syndrome have severely fragile skin which is very soft, resulting in sagging and folding.
Tenascin-X type of syndrome is inherited as a recessive direct passing from parent to child. Patients with this type present with hyper elastic skin, fragile tissue and joint hypermobility.
What are the Signs and Symptoms of Ehlers-Danlos syndrome?
The symptoms include loose skin that stretches easily and skin that is saggy and soft in appearance that may be fragile or tear easily. Bruising easily without a significant trauma to the bruised area and joints that move easily past the usual range of motion are signs indicative of Ehlers-Danlos.
What is the treatment for Ehlers-Danlos?
The treatment for Ehlers-Danlos varies patient to patient depending on the symptoms the individual presents with. Skin protection is critical as the fragile skin can be hard to stitch should injury occur. It is recommended to protect the fragile skin from sun and trauma where possible. As joint injury is common, bracing can be used to aid in joint stability and exercises strengthening the muscles around the joint can help to minimize joint injury.