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Healthy Geezer: Ehlers-Danlos Syndrome genetic mechanics unknown

Q. My husband has Ehlers-Danlos Syndrome. What are the chances one of our children will get it?

Ehlers-Danlos Syndrome (EDS) is a group of inherited conditions that affect connective tissue, which provides support to skin, tendons, ligaments, blood vessels, internal organs and bones.

There is no cure for EDS. Most types of EDS don’t lower your life expectancy.

Connective tissues are made of two proteins: collagen and elastin. People with EDS have weaker collagen. This means their connective tissue isn’t as strong or supportive as it should be.

EDS is named after two dermatologists: Dr. Edvard Lauritz Ehlers of Denmark and Dr. Henri-Alexandre Danlos of France, who described the condition in the early 20th century.

There are 13 types of EDS. About 90 percent of cases are hypermobile (hEDS). It affects about 1 in 5,000 people.

The genetic mechanics of hEDS are unknown. Anecdotal information indicates that there is a dominant inheritance pattern, which means that one copy of a genetic variant passed down from one parent is needed to inherit hEDS.

If a parent has a condition with a dominant inheritance pattern, each of that parent’s children will have a 50 percent chance of inheriting the condition.

The most common EDS symptoms are overly-flexible joints, and skin that is stretchy and fragile. Overly flexible joints can cause dislocations and arthritis. Fragile skin makes it difficult to stitch a wound.

Other EDS symptoms are pain, fatigue, bruising, digestive problems, dizziness and bladder control.

Vascular Ehlers-Danlos syndrome, a rare form of the condition, is life-threatening. It can weaken arteries. A rupture of any of the larger blood vessels can be fatal.

Genetic tests can confirm the diagnosis of rarer forms of EDS. There is no genetic testing available for hEDS. Extremely loose joints, fragile or stretchy skin and a family history of EDS are often enough to diagnose the condition.

There are no disease-specific treatments for any type of EDS.

Physical therapy is an important part of treatment for people with EDS. To prevent joint dislocations, exercises are recommended to strengthen the muscles and stabilize joints. Sometimes, braces are used to prevent dislocations.

Have a question? Email: fred@healthygeezer.com. Order “How To Be A Healthy Geezer,” 218-page compilation of columns: healthygeezer.com

All Rights Reserved &Copy; 2024 Fred Cicetti

The Times News, Inc. and affiliates (Lehigh Valley Press) do not endorse or recommend any medical products, processes, or services or provide medical advice. The views of the columnist and column do not necessarily state or reflect those of the Lehigh Valley Press. The article content is not intended as a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician, or other qualified health-care provider, with any questions you may have regarding a medical condition.