The only doctors whose business it is to diagnose EDS are geneticists (the specialists in inherited conditions). But there are very few of them, and they typically have waiting times of one to two years, or even longer.

What kind of 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.

Can rheumatologists diagnose EDS?

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

Can neurologists diagnose EDS?

Although the global assessment of EDS patients is, by definition, multisystem and often managed by other specialists, such as rheumatologists and clinical geneticists, the neurologist has a high chance of evaluating still undetected EDS patients with a neurological presentation.

Can a GP diagnose 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. The local genetics specialist will ask about your medical history, family history, assess your symptoms and may carry out a genetic blood test to confirm the diagnosis.

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

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Can a blood test detect EDS?

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.

When is EDS usually diagnosed?

My geneticist told me that it often takes an average of 10 to 20 years to receive a diagnosis of EDS, with many people not receiving an accurate diagnosis until well into their 40s. As with many medical conditions, EDS disproportionately impacts women.

Does EDS show on MRI?

MRI can help detect lesions in the brain containing collagen fibers, which are often seen in EDS patients who previously experienced trauma.

Is EDS a neurological disease?

Ehlers–Danlos syndrome (EDS) is a heterogeneous heritable connective tissue disorder with various neurological manifestations, including chronic pain. The neurological manifestations in EDS are often regarded as being caused by the associated musculoskeletal disorders or polyneuropathy.

Can EDS cause neurological problems?

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.

How does a rheumatologist diagnose EDS?

The doctor will test skin stretchiness and joint flexibility. Imaging tests can look for other signs and complications of EDS. A doctor can confirm the diagnosis of EDS through genetic tests performed on a blood sample.

How is EDS hypermobility diagnosed?

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).

Is Ehlers Danlos autoimmune?

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 Michael Phelps have Ehlers Danlos?

About 10% of all people have loose joints that don't cause any problems; Michael Phelps is one example. Others with hypermobile joints may develop potentially serious health concerns and complications and thus are considered to have a medical disorder, such as Ehlers-Danlos syndrome (EDS).

Does 23andMe test for EDS?

But companies like 23andMe, that mainly work with ancestry, are not recommended by geneticists for assessing EDS or most other inheritable conditions.

Who is most likely to get Ehlers Danlos Syndrome?

Most are rare e.g., 1 in 40,000 – 200,000 and some are ultrarare i.e., less than 1 in a million people. Individuals of all racial and ethnic backgrounds are affected by EDS which can present with complications from birth and progress over time.

What kind of doctor treats joint hypermobility syndrome?

Doctors who treat hypermobility syndrome include general-medicine doctors, family medicine doctors, and internists, as well as rheumatologists, orthopedists, and physical-medicine physicians.

Does vitamin C help EDS?

Ascorbic acid (Vitamin C) may be recommended to help reduce the easy bruising that accompanies EDS. Hypermobile joints easily dislocate. With each dislocation, subsequent dislocations are increasingly likely, therefore prevention is particularly important for quality of life.

Does EDS cause brain fog?

While “brain fog” is not one of the most common symptoms of Ehlers-Danlos syndrome (EDS), many patients report experiencing this form of cognitive dysfunction, which can affect their ability to focus, learn, retain information, and maintain employment.

How do you test for vascular EDS?

A diagnosis of vascular Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change ( mutation ) in the COL3A1 gene (usually) or the COL1A1 gene (rarely) can be ordered to confirm the diagnosis.

Does Ehlers-Danlos make you look older?

Due to the collagen in the skin being extra stretchy, many EDS patients experience a lack of wrinkles as they age. This collagen may help EDS patients look younger and can also cause skin to feel extremely soft. Doctor's even describe the skin as “velvet-soft”.

How long can you live with Ehlers-Danlos Syndrome?

People affected by vascular EDS have a median life expectancy of 48 years and many will have a major event by age 40. The lifespan of people with the kyphoscoliosis form is also decreased, largely due to the vascular involvement and the potential for restrictive lung disease.

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 mild Ehlers-Danlos?

It can be mild and is probably often undiagnosed. However many people with hEDS have significant or even severe pain and disability. The main symptoms of hEDS are stretchy skin (which is not fragile but which may heal slowly) and unusually flexible joints. Many people with hEDS have tiredness, pain and mood changes.

Does Eds make you skinny?

Ehlers-Danlos syndrome (EDS) is a disease that weakens the connective tissues of your body. These are things like tendons and ligaments that hold parts of your body together. EDS can make your joints loose and your skin thin and easily bruised.