Diagnosed with Ehlers-Danlos Syndrome but Have No Known Family History?

Diagnosed with Ehlers-Danlos Syndrome but Have No Known Family History?

Ehlers-Danlos syndrome (EDS) is the name given to a group of genetic disorders that weaken the connective tissues supporting muscles, blood vessels, and other tissues.

Often, the first time patients hear about EDS is when they are diagnosed, which makes some wonder why they have been diagnosed with a genetic disease when they have no family history of it.

People can develop EDS, even when they have no documented family history of the disease, in two ways:

New genetic mutation

In every generation, new genetic mutations occur through a variety of processes, including the recombination of genetic material during the process of making egg and sperm cells. EDS can be caused by a new genetic mutation, that is, a mutation that occurs for the first time in a child and is not inherited from parents.

Mild symptoms

EDS is a rare disease. Occasionally, parents or other family members do have an EDS-causing mutation, but their symptoms are so mild that they are never diagnosed. The milder symptoms, such as joint weakness or bruising easily, could be overlooked.

Genetic counselling

If you have been diagnosed with EDS, consult a genetic counselor to help you find out if family members also have it. A genetic counselor can advise you about which family members should be tested for the disease and the risk of your children inheriting it.

 

Last updated: August 9, 2019

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Ehlers-Danlos News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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