Ehlers-Danlos syndrome (EDS) is characterized by unusually flexible joints and excessively stretchy and delicate skin. It is a hereditary connective tissue disorder with six distinct sub-types and rare variants.
Each subclass has a unique host of problems, but they all modify the structure of collagen in various parts of the body. Hypermobile Ehlers-Danlos is the most common, but all types equally affect females and males of all ethnicity. EDS cannot be prevented or cured.
The symptoms of Ehlers-Danlos vary according to sub-type.
Ehlers-Danlos syndrome is the result of genetic mutations which manifests as 13 different subtypes, known as classical types, hypermobility types, kyphoscoliotic form, and vascular types, all of which have different genetic drivers. Both autosomal dominant and autosomal recessive genetic factors are responsible for Ehlers-Danlos syndrome. In autosomal dominant conditions, only one copy of the gene is necessary from the parents to pass on the condition and the child has a 50% of inheriting Ehlers-Danlos syndrome. In autosomal recessive conditions, both parents must have a copy of the responsible gene and the child has a 25% of developing Ehlers-Danlos syndrome.
The most common types of Ehlers-Danlos syndrome are autosomal dominant. Mutations in ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL6A2, PLUD1, and TNXB have been identified as drivers of Ehlers-Danlos syndrome, among others such as mutations in the LH1 gene. In autosomal recessive Ehlers-Danlos syndrome, some instances are characterized by mutations in the LH1 gene and up to 20 have been identified. However, it is noted that in types I and II of Ehlers-Danlos syndrome, which are known as classical types, it has been difficult to fully determine the genetic drivers. However, in autosomal dominant Ehlers-Danlos syndrome, COL5A1 and COL5A2 have been noted to be associated.
The treatment of Ehlers-Danlos syndrome involves managing symptoms and preventing injuries.
Since Ehlers-Danlos syndrome is genetically mediated, it is not possible to prevent. However, as with many genetic disorders, monitoring and genetic testing can help predict the presence of the responsible genetic mutations. Additionally, consultation with a genetic counselor can help determine the risk of passing on Ehlers-Danlos syndrome based on the genetic subtype.
Using genetic testing and counseling to determine whether there is the presence of autosomal dominant or autosomal recessive can help make decisions on how to best plan and understand the risk in future generations.