How is Ehlers-Danlos diagnosed?

Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems.

How did you know you had Ehlers-Danlos syndrome?

With EDS-HT, the first place to look is at the joints, which in childhood will be loose. Signs of joint laxity, sometimes called “double-jointed” include being able to: Bend your little fingers back beyond 90 degrees. Push each thumb to the front of your forearm.

At what age is Ehlers-Danlos syndrome diagnosed?

It is usually diagnosed before the age of 2 years. Fragility, bruising and sagging of the skin are severe but, surprisingly, the skin heals well. Like the other rare types, in order to inherit it you need to inherit one faulty gene from EACH of your parents.

Is there a blood test for EDS?

If you have EDS Type I or Type II, genetic testing is usually available through a blood test. But, the genetic test only finds about 50% (1 out of every 2) of cases. Your geneticist can also diagnose this type of EDS without testing.

What doctor can diagnose Ehlers-Danlos?

Most medical doctors should be able to diagnose EDS and HSD. However, because the Ehlers-Danlos syndromes are genetic disorders, primary care physicians often provide their patients with referrals to a geneticist.

Ehlers-Danlos Syndrome- causes, symptoms, diagnosis, treatment, pathology

What mimics Ehlers-Danlos syndrome?

Tnxb-/- mice showed progressive skin hyperextensibility, similar to individuals with Ehlers-Danlos syndrome. Biomechanical testing confirmed increased deformability and reduced tensile strength of their skin.

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.

Do Rheumatologists treat Ehlers-Danlos?

The rheumatologist can play an important role in the diagnosis of EDS and is central to the ongoing management of many EDS patients.

Can 23andMe diagnose EDS?

23andMe does not offer diagnostic testing. For testing related to a personal or family history of a particular genetic disease, please consult a healthcare provider in order to ensure that you are pursuing the most appropriate test for your personal situation.

Is Ehlers-Danlos considered a disability?

Applying for Social Security Disability with Ehlers-Danlos Syndrome. Like many rare genetic conditions, there is no Blue Book listing for Ehlers-Danlos. However, you may still qualify for benefits if you can match a listing associated with your particular symptoms or impairments.

What does an EDS flare up feel like?

Day 4 of the Photo-A-Day Challenge - What does a flare up (of symptoms) look like for you? "A "flare up" with EDS for me is extreme pain with my joints, a low grade fever, and subluxations of my fingers and other joints. "Today you are actually witnessing one of the longest flares I've had since being diagnosed.

What is the life expectancy of someone with EDS?

It is often associated with a shortened lifespan. Among affected people diagnosed as the result of a complication, 25% have experienced a significant medical complication by age 20 and more than 80% by age 40. The median life expectancy for people affected by vascular EDS is 48 years.”

How does Ehlers-Danlos affect hair?

The defects of the collagen previously reported in EDS account for the increased extensibility of the skin (1, 2). It is possible that the altered skin structure results in increased pliability of the skin which may allow the hair follicles to expand.

Does EDS show on MRI?

Apart from a physical examination, skin biopsies, and genetic testing, imaging tests such as X-rays, computerized tomography (CT), and magnetic resonance imaging (MRI) can also help to confirm a diagnosis of EDS.

Can you have EDS without stretchy skin?

Skin and Connective Tissue: People with hEDS do NOT have to have profoundly stretchy skin! Most notably, in hEDS, the degree of softness, stretchiness, fragility, bruisability, and poor wound healing of skin differs from “normal” subjects but is mild in comparison to other types of EDS.

Can you have EDS and not be flexible?

Indeed, each type of Ehlers-Danlos is a distinct disorder with its own unique symptoms and challenges—and many do not present with joint hypermobility as a defining symptom.

How do you test for hypermobile Ehlers-Danlos Syndrome?

There is no test for hEDS, so diagnosis involves looking for joint hypermobility, signs of faulty connective tissue throughout the body (e.g. skin features, hernias, prolapses), a family history of the condition, and musculoskeletal problems (e.g. long-term pain, dislocations).

Can a GP diagnose EDS?

Your GP may refer you to a joint specialist (rheumatologist) if you have problems with your joints and they suspect EDS. If there's a possibility you may have 1 of the rare types of EDS, your GP can refer you to your local genetics service for an assessment.

Is Ehlers-Danlos related to rheumatoid arthritis?

There is about one case of Ehlers-Danlos for every 50 with rheumatoid arthritis or every five people with lupus. Features common to most of the 13 include very mobile joints that dislocate easily, skin that you see through, poor wound healing with a specific type of scars.

Does EDS cause anxiety?

Anxiety Disorders and EDS

A high prevalence of anxiety was found in patients with EDS (35–37). Similar to EDS, panic disorder is also found more frequently in patients with hEDS as reported by recent research and meta-analysis (38–40), while others have reported a different result (41).

Does EDS affect teeth?

In addition people with EDS, like any other individual, are at risk of some periodontal disease that can ultimately lead to bad breath, gum bleeding, tooth mobility or tooth loss. Good oral hygiene will reduce the risk of periodontal disease.

Does EDS cause fatigue?

Fatigue is particularly common in hypermobile EDS (hEDS). Contributing factors can include sleep disorders, muscle deconditioning (loss of muscle tone and endurance), headaches, and nutritional deficiencies. It is important to exclude other causes, such as anemia or a chronic infection.

Does EDS affect the eyes?

Ehlers Danlos Syndrome patients are prone to myopia and elongated eyes due to the stretching of the collagenous sclera.

Can EDS be mistaken for fibromyalgia?

The pain is generally complex, often generalized [15], and for people with hypermobile EDS often leads to poor physical, psychosocial, and overall function comparable to patients with fibromyalgia (FM) [16]. As in other chronic pain conditions, psychological symptoms are common both in EDS and HMS [14,17].

What serious health problems can come with EDS?

There are many neurological and spinal problems which have been observed to be more common in EDS, examples include migraine, early disc degeneration, Chiari 1 malformation, craniocervical instability, motor delay, and curvature of the spine. Musculoskeletal pain can start early and be chronic.