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What is Ehlers Danlos Syndrome?

What is Ehlers Danlos Syndrome?

Is Ehlers-Danlos serious?

Vascular EDS (vEDS) is a rare type of EDS and is often considered to be the most serious. It affects the blood vessels and internal organs, which can cause them to split open and lead to life-threatening bleeding. People with vEDS may have: skin that bruises very easily.

What happens in the body to cause 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 there’s a problem with it, those structures can be weak and more likely to have problems.

Can you live a normal life with EDS?

EDS cannot be ‘cured’ but many people learn over time how to control it and live full and active lives. The day-to-day management of most types of EDS is based around the right kind of exercise, physiotherapy and pacing. In addition you should seek referrals for any associated conditions you may have.

Is EDS an autoimmune disease?

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.

Are you born with Ehlers-Danlos syndrome?

EDS is something you are born with but symptoms may not manifest themselves until later in life. It is not uncommon for a genetic condition to first become apparent during puberty, alternatively symptoms can be triggered by a trauma, such as a virus, many years down the line.

Is EDS linked to autism?

Recent research suggests that EDS may share strong links with autism. Case studies have previously been published identifying individuals who are both on the autism spectrum and have a diagnosis of EDS.

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.

Does EDS get worse with age?

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

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.

How do you get diagnosed with Ehlers-Danlos syndrome?

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.

What does EDS pain feel like?

Pain in the abdomen. Frequent headaches. Pain with daily tasks. People with EDS can have trouble using pens and pencils, because holding tightly to something so thin becomes painful.

What can people with EDS not do?

In general, EDS patients should avoid high-impact exercises such as running, and sports that carry a high risk of injury due to impact. For example, weightlifting places pressure on locked joints and should be avoided.

Does EDS reduce life expectancy?

Prognosis depends on the type of Ehlers-Danlos Syndrome and the individual. Life expectancy can be shortened for those with the Vascular Type of Ehlers-Danlos Syndrome due to the possibility of organ and vessel rupture. Life expectancy is usually not affected in the other types.

Can EDS cause pots?

Postural orthostatic tachycardia syndrome (POTS) is associated with Ehlers-Danlos syndrome Type III, joint hypermobility syndrome, and chronic musculoskeletal pain, complicating the diagnostic approach of the orthopaedic surgeon caring for these patients.

Is hypermobility linked to lupus?

A small number of people with lupus have joint hypermobility. This is when joints are very flexible. It can lead to problems such as joint pain, poor balance and in rare cases dislocation when a joint pops out of place. Pain from muscles and joints may be due to a condition called fibromyalgia.

Is EDS considered a disability?

The answer is that Ehlers-Danlos Syndrome (EDS) can be a disabling condition, depending on how it presents. EDS is a genetic disorder affecting connective tissues and causing an array of serious physical problems, ranging from joint pain to cardiovascular issues.

Does Michael Phelps have hypermobility?

Lots of sports and pop stars are hypermobile. Cheryl Cole and Michael Phelps are very flexible people and they are both hugely successful in their careers. This may even be the reason why you are very good at a sport or activity. People can train to be hypermobile like ballerinas or swimmers or you can be born with it.

What does a child with EDS look like?

Very loose small joints (fingers), but most often not the large joints (knees, elbows, hips, shoulders) Distinct facial look with a thin nose, thin lips and hollow-looking cheeks. Thin see-through skin where blood vessels are seen just under the skin in areas that are not typical. Normal scar formation.

Is Ehlers-Danlos inherited from mother or father?

With this type of inheritance pattern the EDS gene is dominant. This means it overrides the effects of the other gene in the pair. Therefore if a parent who has EDS contributes the Ehlers-Danlos gene and the other parent contributes a normal gene the child will inherit the disorder.

How do I know if my child has Ehlers-Danlos syndrome?

Hypermobile EDS: Typical symptoms include joint hypermobility; soft, velvety skin that bruises easily; and chronic bone or muscle pain. Classical EDS: Symptoms may include elastic, stretchy skin that bruises easily, hypermobile joints, muscle weakness, and delayed development.

Does EDS affect the brain?

Because EDS is a connective-tissue disorder, it is not commonly associated with the brain or the nervous system. However, there is evidence that some types of EDS can affect the brain. Studies have suggested that patients with EDS might be susceptible to damage to brain cells after even a mild traumatic head injury.

Why does hypermobility cause anxiety?

The experience of anxiety is greater and more frequent in people living with this condition than in the general population. Dr Jessica Eccles can explain this increase in anxiety by the fact that people with hypermobility are more sensitive to bodily feelings, such as changes in sensations like heart rate.

What percent of autistic people are hypermobile?

The hypermobile subtype (hEDS) is the most common and accounts for 8090% of EDS cases (39). As in ASD, the genetic background of hEDS has not yet been elucidated, therefore this is the only EDS subtype for which the diagnosis remains clinical.

Does EDS affect the eyes?

Ophthalmological abnormalities in EDS include but are not limited to myopia, retinal detachment and glaucoma. Some of these can be vision-threatening. An optometrist or ophthalmologist should establish a comprehensive baseline for a person with EDS, including a complete eye exam and history.

Does EDS affect nails?

Abnormalities of the nails are frequently seen in clinical practice although there has been no specific study of these in people with EDS. Difficulty with hand function, coupled with painful upper and lower limb joints, may also make it difficult for someone to reach and cut their toenails.

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.

Does Ehlers-Danlos make you look younger?

Less wrinkles

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.

Does Ehlers-Danlos affect the heart?

Although the most common forms of EDS classical and hypermobile do not typically cause heart problems, these problems can happen. In addition to weak, easily dislocated joints, and soft, fragile skin, these patients may also have weak blood vessels that are easily stretched or torn.

What is the difference between hypermobility syndrome and Ehlers-Danlos?

While hypermobile EDS (hEDS) remains the only EDS without a confirmed cause, the criteria for hEDS diagnosis have been tightened compared to the 1997 Villefranche nosology as determined by international consensus. The essential difference between HSD and hEDS lies in the stricter criteria for hEDS compared to the HSD.

What mimics Ehlers-Danlos syndrome?

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

How do I know if I’m Hypermobile?

Common signs of hypermobile EDS include: Joint hypermobility in your pelvis, hips, shoulders, elbows, knees, fingers, and toes. Stretchy skin. Tendency to bruise easily.

Do Rheumatologists treat EDS?

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

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