How is Ehlers Danlos diagnosed?

The only 100% true diagnosis is genetic testing. But there is the Beighton Scale, which assesses joint hypermobility. If you score more than a 6 out of 9 points, you may have EDS.

Depending on the type, diagnosis is clinical (based on signs and symptoms) or is based on genetic testing. EDS can affect every body system, so each individual will need to see the appropriate specialist for what systems are affected. For example, I saw orthopedics, rheumatology, neurology, cardiology, dermatology, and genetics when I was being diagnosed.

The first doctor you want to go to is a Rheumatologist. The second is a geneticist. There aren't genetic tests for EDS Hypermobility type but it always helps. A Geneticist and a Rheumatologist can then help you get the help you need. It's of the most importance to get diagnosed. It helps with everything, and, at least, you DO know what you have.

One of the most important things is to have a family history at hand when you go to a Rheumatologist/Geneticist. Since there isn't a genetic test for EDS Hypermobility, family history and your own history is what the Geneticist will base their diagnosis on.

Ehlers-Danlos can only be diagnosed by a medical professional, preferably a geneticist.

I saw a rheumatologist and then a geneticists to get my diagnosis. It was by no means an easy process. I had to fight to get my diagnosis and i any still fighting to get the right treatment now

It's best to see a geneticist who will move your limbs around to see how flexible you are and base it on the Beighton Scale that goes from 1-9 points.They may also recommend bloodwork to rule out the most serious forms and order a baseline Echo to check the valve sizes of your heart. Orthopedic surgeons are imperative to have to order PT, and braces you may need.

It is very difficult to diagnose and often people go decades without a diagnosis. Some types an be diagnosed with genetic testing but not the hypermobility type. Research this because it has a very complicated diagnosing criteria. I recommend Dr Staci Kallish for a diagnosis

All forms of Ehlers-Danlos, with the exception of Hypermobility Type, can be diagnosed with genetic testing. Currently, the Hypermobility Type is diagnosed in a clinical setting through a 10 point physical analysis for common symptoms/ findings, such as "stretchy" skin and hypermobile joints.

Ehlers Danlos is diagnosised by genetic testing

For me, my EDS was diagnosed through the Beighton Scale.

If you suspect you have eds get a referral to the genetics and they can also help you with getting referrals to different people you will need to see. For me I have a gi Dr, kidney Dr, lung Dr, pmr Dr, ortho Dr, pt, hematologist, primary, and a surgeon

By beighton score and genetic testing

For me it was a combination of medical history, an observant Nurses Assistant, DNA and blood testing.

Ehlers Danlos should be diagnosed the same for all
It should involve reports from many Specialists depending on what the patient is presenting with of course Rheumatologist / Geneticist / Dermatologist / Cardiologist / Opthalmologist / Neurologist / Hematologist / Internist / Physiatrist
It should begin with a Geneticist that specializes in Connective Tissue Disorders
Genetic testing up front
Genetic counselling - not just a geneticist that says ' show me your tricks' and you need to perform like a circus dog. Only to be sore days later.
These doctors must all have knowledge that not ALL EDS patients are hypermobile, have stretchy skin, or are tall and lean. A multidisciplinary approach to diagnosis is necessary for all types.
Testing for the common cardiac issues / genetic markers / structural differences / full medical history that includes symptoms and abilities past and present / Full family medical history / physical examination / that doesnt just involve the 'party tricks'
Sometimes the patient is looking for a simple answer to a question and not necessarily a diagnosis or a new label. Most important of all in this process, is a strong General Practitioner that is allowed the extra time needed to coordinate the protocol of care recomended after a diagnosis has been made. Without that, things can be a struggle.

The patient is in the drivers seat in their care but you have to be able to trust in the skill and training and expertise of your medical team. If you can't freely talk to a doctor and you don't feel heard, try and talk to them about that. If you still don't feel heard, find another doctor. This however is easier said than done. Doctors deserve respect, Patients also deserve respect. You might know more about this illness than the doctors you meet along the way, but you are the patient and at some point you MUST trust your doctor. ALWAYS research in peer reviewed articles, find support systems around you, don't overwhelm in the moment but prepare for doctor visits, and if you know something is wrong (even if tests and assessments say otherwise) push till you are heard. Do that in a respectful calm way and bring someone with you to appointments that can speak and ask questions when you can't.

A team is what EDS'ers need, but the proper team that you choose and feel comfortable with. Know what each Specialist does and what they treat, make sure your referrals are done and the content of the referrals are appropriate to the reason for the appointment

A genetic exome usually done by a connective tissue genetics clinic and a clinical evaluation of criteria.

Hay estudio de sangre q es un estudio genético o la mayoría de las veces es con la clínica del paciente. Los síntomas . Se tarda en el diagnóstico

The Beighton Scoring System for hyper mobility. Genetic testing and some blood work.

Sometimes detailed family history sometimes skin biopsy with electron microscope beighton scoring

Genetic testing for 13 of the 14 current types. Hypermobile Ehlers-Danlos syndrome currently has no genetic test and a clinical test for the condition can be done by a general practitioner. The criteria for diagnosis with Hypermobile Ehlers-Danlos syndrome can be found on the Ehlers-Danlos Society’s website at https://www.ehlers-danlos.com/

The Beighton Score system measures joint mobility. A family history is taken, and you are asked about skin fragility and pain.
Many doctors are not knowledgeable about EDS or hesitant to diagnose because it is rare.

Usually by a specialist and it usually takes years

Most subtypes are diagnosed by a genetic panel however HEDS is clinical diagnosis until they find the gene