Ehlers-Danlos syndrome (EDS) is a group of related conditions caused by genetic mutations, which affect the connective tissue that provides strength and stability to the joints, skin, blood vessels, and organs. Connective tissue is primarily made up of a protein called collagen, which provides structural integrity.
Genetics and inheritance of EDS
Mutations in at least 19 different genes are associated with EDS, with certain mutations causing different types of EDS. Most of these genes carry instructions to make collagen or other proteins that regulate the production or processing of collagen. Mutations in them lead to inadequate levels of collagen being produced, resulting in weak connective tissue and the various symptoms associated with EDS.
Disease-causing mutations can either be inherited or can appear de novo, meaning they are found in an individual whose parents do not carry the mutation.
Each person has two copies of every gene present on the non-sex chromosomes, which are called autosomes. They inherit one copy from each parent. In some cases, both copies of the gene associated with EDS must carry the mutation to be disease causing (autosomal dominant inheritance). Other times, just one copy of a mutated gene is enough to cause EDS (autosomal recessive inheritance).
Why is genetic testing done?
To diagnose EDS, the healthcare team will conduct a detailed review of the patient’s symptoms, the family’s medical history, and conduct physical examinations. A doctor who suspects EDS may then order a genetic test to confirm the diagnosis.
Results from the genetic test can:
- Confirm an EDS diagnosis
- Differentiate between the types of EDS
- Identify EDS carriers among family members of the affected individual
Genetic screening of immediate and extended family members may also be requested to determined if others are affected.
Genetic counselors are trained specialists who can help individuals and family members understand the results of genetic tests, guide discussions with other family members who might be at risk, and help in making decisions about the patient’s treatment and disease management. They can also help couples make informed decisions about fertility, family planning, and testing during pregnancy.
In the early stages of pregnancy (10–12 weeks), chorionic villus sampling (CVS) can help diagnose EDS in the fetus. In the later stages (13–20 weeks), amniocentesis that tests the amniotic fluid surrounding the fetus for any genetic changes can be useful.
In-vitro fertilization with a pre-implantation genetic diagnosis of the embryo can prevent EDS from being passed from parents to a child.
Last updated: Oct. 15, 2019
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