Ehlers-Danlos syndrome - Symptoms and causes (2024)

FAQs

What is the most common cause of Ehlers-Danlos syndrome? ›

The different types of EDS are caused by faults in certain genes that make connective tissue weaker. Depending on the type of EDS, the faulty gene may have been inherited from 1 parent or both parents. Sometimes the faulty gene is not inherited, but occurs in the person for the first time.

Ehlers-Danlos Syndrome Causes

EDS happens when your body doesn't make a protein called collagen in the right way. Collagen helps form the connections that hold your body's bones, skin, and organs together. If it's not as strong as it should be, those structures become weak and can't function like they should.

You may have an increased risk of EDS if one or both of your biological parents have it. Similarly, if you have EDS, you might pass the mutation that caused it to your biological children. Talk to a healthcare provider about your risk of inheriting or passing on Ehlers-Danlos syndrome in your biological family.

Exercises to strengthen the muscles and stabilize joints are the primary treatment for Ehlers-Danlos syndrome. Your physical therapist might also recommend specific braces to help prevent joint dislocations.

Since Ehlers-Danlos Syndrome can be present at birth or shortly thereafter, it is not unusual for it to be diagnosed during a child's toddler years. This can be done by looking at their specific symptoms, family history, urine testing and skin biopsies. It can sometimes be helpful to perform a cardiac ultrasound.

Mast cell activation disorder is a malfunctioning of part of the immune system, where a type of immune cell (mast cells) release an excess of inflammatory chemicals such as histamine, causing allergy-like symptoms throughout the body. Mast cell dysregulation may be linked to some types of Ehlers-Danlos Syndromes.

Limiting gluten or eating a gluten-free diet does not have to cost a ton, nor does it mean that you can only shop in the gluten free aisle! But limiting gluten can make a huge difference in your life. Gluten can cause inflammation in the body which can cause pain or other complications when you have EDS.

Patients with EDS, especially those with EDS hypermobility type, are often misdiagnosed with conditions such as fibromyalgia, chronic fatigue syndrome, or depression, given the overlap of symptoms and the psychosocial impact they have on the patient.

Micronutrient deficiencies are often: evident in persons with EDS (e.g., magnesium, vitamin B6, vitamin D, vitamin B12, vitamin C). known to exacerbate symptoms associated with EDS and the secondary conditions arising from EDS.

People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.

What are three of the cardinal features of Ehlers-Danlos? ›

Ehlers-Danlos syndrome (EDS) is the term used for a group of relatively rare genetic disorders of connective tissue that are characterized by one or another of several features, including skin hyperextensibility, joint hypermobility, and tissue fragility.

The median life expectancy for individuals with vascular EDS is around 48 years. Patients with kyphoscoliotic EDS — whose hallmark is a sideways curvature of the spine in combination with a hunched back — also may have a reduced life expectancy.

People with hypermobile EDS often experience pain from large breasts. Patients with hEDS often have aggravated symptoms of macromastia, or enlarged breasts.

Pain. Chronic pain in the Ehlers–Danlos syndromes, especially in hypermobile EDS, is very common and may be severe. It may be widespread or it may be limited to one area of the body such as a limb. Headaches and gastrointestinal discomfort can occur as well as joint, muscle and nerve pain.

by Drugs.com

With Ehlers-Danlos syndrome (EDS), experts recommend avoiding drugs that increase your risk of bleeding—such as anticoagulants and antiplatelet agents—because those affected with EDS are at higher risk for bruising and injury.

Patients with vascular EDS have an average life expectancy of 48 years. About 80% of patients might have a critical event by the age of 40 years. The lifespan of a patient with kyphoscoliosis EDS is reduced due to two reasons: Involvement of the blood vessels.

People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.

Although symptoms arise at childhood, they become more severe in adulthood. The major clinical manifestations of EDS include joint hypermobility, skin hyperextensibility, and generalized connective tissue fragility [3,4].