Ehlers-Danlos Syndrome (EDS) is a complex condition to fully understand, with subtypes that manifest themselves in widely varied ways. But the underlying causes of EDS are well understood. It all comes back to collagen – the structural protein in your body that plays a crucial part in the composition of your body tissue.
EDS groups together a set of genetic disorders, which means that at least one mutated gene has been passed down from parent to child. Chromosomes are the codes and traits that parents pass to children, and each chromosome is made up of portions of that code called genes.
Chromosomes from the father and mother match up into 23 pairs. Each pair passes along a combination of codes and traits within the genes, which is why every person is both unique and common.
When a gene’s code is different from what was meant to be passed on, it’s said to be “mutated.” Sometimes mutations have little to no effect, while sometimes they dramatically affect the way cells do their job.
-The majority of people with EDS have an autosomal dominant version, which means that only one copy of a chromosome has a mutated gene.
-Far fewer have an autosomal recessive version, which means that both copies of the chromosome have the same gene mutation.
In many cases, parents may carry the gene without any symptoms or knowledge of a family history. The right combination of genetic factors must unlock for a child to be born with EDS.
What EDS disorders have in common is that the genetic mutations described above affect the body’s ability to produce collagen. Collagen is key for connective tissue – it’s like glue that holds all the tissue in your body together, only even more important.
Different genes work with collagen in different parts of the body. When your body doesn’t have the right instructions to produce collagen for that part of the body, those parts of the body are affected. The gene mutations that cause EDS often break down into a handful of major symptom groups.
What causes EDS to seem more or less severe?
Because it’s more accurate to describe EDS as a group of disorders than one cause-and-effect condition, how people experience EDS can vary just as widely. So while all EDS cases have the same overall genetic cause, different genetic mutations lead to both different symptoms and different management needs.
Only medical professionals with a rigorous understanding of EDS will be best prepared to find the full-picture diagnosis, treatment options and management plan to provide some relief for a patient’s unique set of symptoms.