What type of gene mutation causes Ehlers-Danlos syndrome?

What type of gene mutation causes Ehlers-Danlos syndrome?

Mutations in at least 20 genes have been found to cause the Ehlers-Danlos syndromes. Mutations in the COL5A1 or COL5A2 gene, or rarely in the COL1A1 gene, can cause the classical type.

Is GeneReviews peer-reviewed?

Each chapter in GeneReviews is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online. GeneReviews currently comprises 818 chapters.

Is Ehlers-Danlos a lack of collagen?

The problems seen in patients with EDS can be due to either the poor strength of collagen. It may alternatively be due to the absence of sufficient amounts of structurally normal collagen. The primary complications seen in EDS involve the skin, muscles, skeleton, and blood vessels.

What collagen does Ehlers-Danlos affect?

Classical Ehlers-Danlos syndrome (EDS) is characterized by skin hyperelasticity, joint hypermobility, increased tendency to bruise, and abnormal scarring. Mutations in type V collagen, a regulator of type I collagen fibrillogenesis, have been shown to underlie this type of EDS.

Do collagen supplements help Ehlers-Danlos?

Bottom Line: No established research or clinical experience has proven that collagen supplementation is helpful for persons with EDS! Theoretically, a diet adequate in glycine, proline, lysine, and vitamin C (or supplementation) would support collagen biosynthesis.

Does Ehlers-Danlos get worse with age?

Many of the problems associated with EDS are progressive, meaning that they get worse over time.

Are there prenatal tests for hemochromatosis?

Prenatal testing: Although prenatal testing for a pregnancy at increased risk is possible once the HFE pathogenic variants have been identified in an affected family member, prenatal testing is not usually performed because HFE hemochromatosis is an adult-onset, treatable disorder with low clinical penetrance.

Is Ehlers-Danlos autoimmune?

In the United States, two million people live with rheumatoid arthritis, and another 1.5 million live with lupus. A much rarer group of connective tissue disorders is called Ehlers-Danlos syndrome. Unlike the diseases noted above, Ehlers-Danlos syndrome is not an autoimmune condition, it’s an inherited disorder.

Does hypermobile EDS get worse with age?

The most common types of EDS (classical, classical-like, and hypermobile) do not greatly affect life expectancy. However, symptoms may become more severe as patients age and joints that have been dislocated multiple times become painful. Everyone’s bones become weaker with age.

What vitamins should I take for EDS?

We therefore hypothesize that the symptoms associated with Ehlers-Danlos syndrome may be successfully alleviated using a specific (and potentially synergistic) combination of nutritional supplements, comprising calcium, carnitine, coenzyme Q(10), glucosamine, magnesium, methyl sulphonyl methane, pycnogenol, silica.

What foods to avoid if you have Ehlers-Danlos syndrome?

What foods should I avoid? Decrease your intake of foods and beverages containing processed sugar — such as pastries, bread, and soda or cola drinks. It’s also important to decrease the amount of cholesterol and saturated fat that you take in, by reducing eggs, whole milk, cheese, and fried foods.