Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the connective tissue in the blood vessels, skin, joints, and organs. Several mutations have been associated with EDS. Genetic testing is used to identify a person’s disease-causing mutation and confirm the diagnosis.
Genetic counseling can help patients and families understand the diagnosis and its implications.
How is EDS inherited?
EDS-causing mutations can either be inherited or acquired de novo, meaning they can occur in a person whose parents do not carry that mutation.
In autosomal dominant inheritance, it is sufficient that one of the two copies of a disease-associated gene is mutated for the disease to develop — that inherited from either the father or the mother. A child who has one parent with the disease, therefore, has a 1 in 2 chance of also acquiring the disease.
In autosomal recessive inheritance, the disease only develops if both copies of the gene are mutated, meaning one mutated copy is inherited from each parent, and both parents are disease carriers.
How can genetic counseling help?
Genetic counselors are healthcare professionals with special training in medical genetics and counseling. They help patients and families evaluate their genetic test results and understand the associated risks. Genetic counselors can help families:
- understand the condition
- develop a management plan
- convey the diagnosis to the extended family and encourage at-risk family members to also be tested
- help patients talk to their doctor and develop a management plan
- discuss the condition with social workers and teachers to accommodate the patient’s special needs
- make decisions based on the patient or family’s unique situation
What happens during a session?
Genetic counseling can occur in a hospital or a doctor’s office. Before the session, it is helpful to find out as much information about the extended family as possible. The counselor will ask questions relating to family history and this disease. During the counseling session, the genetic counselor:
- will discuss the patient’s medical history
- go over the diagnosis and explain specific details as needed
- use the information about family members and help draw a family tree to identify at-risk individuals in the family
The duration of the session may vary among centers, but is usually about 45 minutes long.
How can genetic counseling help family planning?
Couples with a family history of EDS can benefit from genetic counseling while planning to start a family. They must be aware of the different types of EDS and the likelihood of passing one onto their children.
Genetic counselors can also help prospective parents understand the various options available to them to avoid passing a mutation to a child (like in-vitro fertilization with pre-implantation genetic testing), or diagnosing the disease before a baby is born, via such tests as as chorionic villus sampling and amniocentesis.
Last updated: Oct. 20, 2019
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