FAQ: What Questions Would A Doctor Ask Looking For A Family History Of Edlor-danlos Syndrome?

How do you get a genetic testing for 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.

What is the genetic test for Ehlers-Danlos?

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. For hypermobile Ehlers – Danlos syndrome, the most common form, there is no genetic testing available.

How do doctors test for EDS?

How is EDS diagnosed? Doctors may use a series of tests to diagnose EDS (except for hEDS), or rule out other similar conditions. These tests include genetic tests, skin biopsy, and echocardiogram. An echocardiogram uses sound waves to create moving images of the heart.

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Does EDS run in the family?

Each type of EDS is a distinct disorder that ” runs true” in a family. This means that an individual with one type of EDS will not have a child with a different type.

Does EDS affect teeth?

While many people with EDS not have any notable oral problems specifically due to EDS, this connective tissue disorder can affect the teeth and gums as well as the temporomandibular joint. In addition, the systemic complications of EDS could sometimes compromise the delivery of routine dental care.

At what age is Ehlers-Danlos Syndrome 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.

Do Rheumatologists treat Ehlers Danlos?

Rheumatologists and EDS The Ehlers Danlos Syndromes are categorized as “connective tissue disorders,” and it is rheumatologists who are supposed to specialize in such conditions.

What does EDS pain feel like?

Signs and Symptoms of EDS. Loose, unstable joints that are prone to sprains, dislocations, subluxations (partial dislocations), hyperextension (double jointedness). Hypermobile joints cause pain, and sometimes the “cracking” or “popping” of them feels like it relieves the pressure.

Does Ehlers Danlos skip generations?

This person could then go on to have an affected child, which may make the disease appear to have skipped a generation. In reality, the altered gene did not skip a generation at all, but the symptoms of the disease were mild or went undetected so that it may have appeared to miss a generation.

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Why are EDS patients called zebras?

According to the international Ehlers-Danlos Society, the reference to zebras is borrowed from a common expression heard in medicine: “When you hear hoofbeats behind you, don’t expect to see a zebra.” In other words, medical professionals are typically taught to look out for more-common ailments rather than testing for

Can you have EDS and not know it?

Many of those suffering from EDS are never diagnosed during their lifetimes. They suffer in pain for many years and die – still not knowing why they had the pain. EDS Awareness is critical! Only 5% of EDS patients are correctly diagnosed.

Can you live a normal life with EDS?

General: EDS affected persons can live like normal people; however, they may feel some constraints in their mobility. A person affected with vascular EDS is prone to serious fatal complications like tearing open of a main blood vessel or organ.

Is EDS classed as a disability?

If you have vascular or regular EDS with severe symptoms that prevent you from working, you may be able to get disability. Ehlers-Danlos can affect your skin, joints, and blood vessel walls; the syndrome is characterized by extremely flexible joints and very stretchy, fragile skin.

Is Ehlers Danlos inherited from mother or father?

Although in the majority of cases EDS is inherited from the parents, in rare cases, it can occur without any family history and due to new mutations occurring during development. EDS may be inherited in one of two ways: autosomal dominant and autosomal recessive.

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Does EDS get worse with age?

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

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