Ehlers-Danlos Syndrome : Causes-Symptoms-Diagnosis-Treatment


 What Is Ehlers-Danlos Syndrome(EDS)?

Ehlers-Danlos syndrome is a group of inherited conditions that affect connective tissues that aid organs and different tissues during the body.

Ehlers-Danlos syndrome is a set of problems that have an effect on connective tissues helping the skin, bones, blood vessels, and plenty of other organs and tissues. Defects in connective tissues cause the symptoms and signs and symptoms of these conditions, which vary from mildly free joints to life-threatening headaches.

What Is Ehlers-Danlos Syndrome(EDS)?
Ehlers-Danlos Syndrome(EDS)

The various sorts of Ehlers-Danlos syndrome have been labeled in numerous exclusive ways. Originally, eleven kinds of Ehlers-Danlos syndrome had been named using Roman numerals to suggest the types (type I, kind II, and so forth). In 1997, researchers proposed an easier classification (the Villefranche nomenclature) that decreased the range of sorts to six and gave them descriptive names based on their major capabilities. In 2017, the class became updated to include rare forms of Ehlers-Danlos syndrome that have been diagnosed more these days. The 2017 type describes 13 sorts of Ehlers-Danlos syndrome.

An strangely massive variety of joint motion (hypermobility) takes place in maximum varieties of Ehlers-Danlos syndrome, and it's far a trademark feature of the hypermobile type. Infants and kids with hypermobility frequently have vulnerable muscle tone (hypotonia), that may put off the improvement of motor capabilities which include sitting, status, and walking. The unfastened joints are unstable and susceptible to dislocation and persistent pain. In the arthrochalasia kind of Ehlers-Danlos syndrome, toddlers have hypermobility and dislocations of each hips at beginning.

Many people with the Ehlers-Danlos syndromes have soft, velvety skin that is exceptionally stretchy (elastic) and fragile. Affected individuals have a tendency to bruise effortlessly, and some styles of the circumstance also cause abnormal scarring. People with the classical shape of Ehlers-Danlos syndrome enjoy wounds that cut up open with little bleeding and leave scars that widen through the years to create function "cigarette paper" scars. The dermatosparaxis kind of the ailment is characterized by way of unfastened pores and skin that sags and wrinkles, and additional (redundant) folds of skin may be present.

Bleeding problems are not unusual inside the vascular sort of Ehlers-Danlos syndrome and are due to unpredictable tearing (rupture) of blood vessels and organs. These headaches can lead to clean bruising, internal bleeding, a hole within the wall of the gut (intestinal perforation), or stroke. During pregnancy, girls with vascular Ehlers-Danlos syndrome may additionally enjoy rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that contain rupture of the blood vessels encompass the kyphoscoliotic, classical, and classical-like kinds.

Other varieties of Ehlers-Danlos syndrome have extra signs and symptoms. The cardiac-valvular type causes severe troubles with the valves that control the motion of blood through the heart. People with the kyphoscoliotic type enjoy intense curvature of the backbone that worsens through the years and might intrude with respiration with the aid of proscribing lung growth. A sort of Ehlers-Danlos syndrome known as brittle cornea syndrome is characterized with the aid of thinness of the clear overlaying of the eye (the cornea) and other eye abnormalities. The spondylodysplasia type capabilities brief stature and skeletal abnormalities including abnormally curved (bowed) limbs. Abnormalities of muscle tissues, including hypotonia and permanently bent joints (contractures), are a few of the function signs and symptoms of the musculocontractural and myopathic varieties of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the tooth and gums.

  1. Medical And Anatomical Concept Of The Human Body

Medical terms

  1. Ehlers-Danlos syndrome is a collection of inherited problems that affect your connective tissues — mainly your pores and skin, joints and blood vessel partitions. Connective tissue is a complex combination of proteins and other materials that offer energy and elasticity to the underlying structures to your frame.
  2. People who've Ehlers-Danlos syndrome normally have overly bendy joints and stretchy, fragile skin. This can end up a hassle if you have a wound that calls for stitches, due to the fact the skin often isn't strong enough to preserve them.
  3. A more extreme shape of the disease, referred to as vascular Ehlers-Danlos syndrome, can cause the walls of your blood vessels, intestines or uterus to rupture. Because vascular Ehlers-Danlos syndrome may have serious ability headaches in being pregnant, you could want to talk to a genetic counselor earlier than starting a circle of relatives.
  4. Ehlers-Danlos syndrome (EDS) is a disorder that weakens the connective tissues of your frame. These are such things as tendons and ligaments that preserve parts of your body together. EDS can make your joints unfastened and your pores and skin thin and without problems bruised. It can also weaken blood vessels and organs.
  5. There's no remedy for EDS, but the signs and symptoms can frequently be treated and managed.

Ehlers-Danlos syndrome (EDS) is a group of disorders that affect the connective tissue The connective tissue helps to support internal organs ligaments skin and blood vessels It is made up of collagen which provides strength and elasticity Proteins known as enzymes are responsible for the production of collagen.

Types Ehlers-Danlos syndrome(EDS)

There are numerous styles of Ehlers-Danlos syndrome, however all make your joints free and vulnerable and your skin surprisingly stretchy.

  • The most not unusual form of EDS makes your joints bend farther than they ought to. That makes them more likely to be dislocated or sprained. Up to 1 man or woman in 10,000 may additionally have this shape of the infection known as the hypermobility kind.

  • In the classical form of EDS, your skin is clean, extremely stretchy, and fragile. People with this kind often have scars at the skin over their knees and elbows and bruises without difficulty. They also are probably to have sprains, dislocations, or conditions like flat ft as well as issues with a heart valve or artery. This form of EDS takes place in about 1 of each 20,000 to 40,000 human beings. But a few human beings can also have a slight form of the sickness and no longer realize it.

  • About 1 person in 250,000 is born with the vascular type of EDS. This kind weakens blood vessels and makes your organs much more likely to have a tear.

Other types of Ehlers-Danlos syndrome :

  • About 60 cases of the kyphoscoliosis kind of the disease were found globally. This is when toddlers are born with weak muscular tissues and bones. They often have surprisingly lengthy limbs or arms and a curved spine that gets worse as they develop. They additionally frequently have eye problems, like shortsightedness or glaucoma, that's associated with too much strain inside your eye.

  • With the arthrochalasia shape of EDS, infants are born with their hip joints out of the area. Their joints are extraordinarily free, and they have the same form of curved backbone as people with the kyphoscoliosis kind. About 30 instances of this kind were recognized.

  • With only about a dozen cases suggested, the rarest form of EDS is called dermatosparaxis. People with this have extraordinarily tender, doughy skin that is without difficulty bruised and scarred. They also are much more likely to have hernias.

Symptoms Ehlers-Danlos syndrome(EDS)

Each form of Ehlers-Danlos syndrome has its own signs. The maximum common kind of the condition is Ehlers-Danlos hypermobility, or hypermobile EDS.There are many specific kinds of Ehlers-Danlos syndrome, but the most not unusual signs and symptoms and signs consist of:

  • Overly flexible joints. Because the connective tissue that holds joints together is looser, your joints can move some distance beyond the normal range of motion. Joint pain and dislocations are not unusual.

  • Stretchy skin. Weakened connective tissue permits your skin to stretch a lot extra than ordinary. You may be able to pull a pinch of skin up faraway from your flesh, however it's going to snap properly again into location when you permit movement. Your pores and skin can also experience fairly soft and velvety.

  • Fragile skin. Damaged skin often would not heal nicely. For instance, the stitches used to close a wound often will tear out and leave a gaping scar. These scars might also appear thin and crinkly.

Symptom severity can vary from man or woman to individual and relies upon the specific type of Ehlers-Danlos syndrome that you have. The most commonplace kind is referred to as hypermobile Ehlers-Danlos syndrome.

Vascular Ehlers-Danlos syndrome

People who've vascular Ehlers-Danlos syndrome regularly proportionate different facial functions of a skinny nose, skinny higher lip, small earlobes and distinguished eyes. They additionally have thin, translucent pores and skin that bruises very easily. In truthful-skinned human beings, the underlying blood vessels are very visible via the pores and skin.

Vascular Ehlers-Danlos syndrome can weaken your heart's largest artery (aorta), in addition to the arteries to different areas of your body. A rupture of any of these larger blood vessels can be deadly. The vascular kind also can weaken the walls of the uterus or huge intestines — which also may additionally rupture.

Causes Ehlers-Danlos syndrome(EDS)

Variants (also referred to as mutations) in at least 20 genes were located to reason the Ehlers-Danlos syndromes. Variants inside the COL5A1 or COL5A2 gene, or rarely inside the COL1A1 gene, can cause the classical kind. Variants inside the TNXB gene purpose the classical-like type and were mentioned in a completely small percentage of cases of the hypermobile kind (despite the fact that in the majority with this kind, the purpose is unknown). The cardiac-valvular kind and some instances of the arthrochalasia type are due to COL1A2 gene versions; variations in the COL1A1 gene have also been determined in people with the arthrochalasia type. Most instances of the vascular type result from variants in the COL3A1 gene, despite the fact that not often this kind is as a result of positive COL1A1 gene variations. The dermatosparaxis kind is resulting from editions within the ADAMTS2 gene. PLOD1 or FKBP14 gene versions result in the kyphoscoliotic type. Other rare types of Ehlers-Danlos syndrome result from variants in different genes.

Some of the genes associated with the Ehlers-Danlos syndromes, which include COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2, offer instructions for making pieces of several exceptional styles of collagen. These pieces assemble to form mature collagen molecules that supply structure and electricity to connective tissues throughout the body. Other genes, such as ADAMTS2, FKBP14, PLOD1, and TNXB, offer commands for making proteins that process, fold, or have interaction with collagen. Variants in any of these genes disrupt the manufacturing or processing of collagen, stopping those molecules from being assembled properly. These changes weaken connective tissues within the pores and skin, bones, and different elements of the body, resulting within the function capabilities of the Ehlers-Danlos syndromes.

Some genes associated with lately described forms of Ehlers-Danlos syndrome have functions that look unrelated to collagen. For a lot of those genes, it isn't clear how variations cause hypermobility, elastic pores and skin, and different features of these situations.

Different types of Ehlers-Danlos syndrome are related to an expansion of genetic reasons, a number of which might be inherited and passed on from discern to child. If you've got the maximum commonplace shape, hypermobile Ehlers-Danlos syndrome, there may be a 50% danger that you will bypass the gene in each of your children.

Complications Ehlers-Danlos Syndrome

Complications depend on the sorts of signs and symptoms and signs and symptoms you have. For example, overly flexible joints can result in joint dislocations and early-onset arthritis. Fragile pores and skin may also increase prominent scarring.

People who've vascular Ehlers-Danlos syndrome are susceptible to often deadly ruptures of most important blood vessels. Some organs, inclusive of the uterus and intestines, additionally may additionally rupture. Pregnancy can increase the danger of a rupture within the uterus.

What is the life expectancy of someone with EDS?

Many people with EDS live a normal life expectancy though some may experience complications of the disorder It’s important to note that most people with EDS do not have any associated health problems and can lead a normal life However there are some cases where this may not be the case.

What does EDS pain feel like?

This is a common question that most people with EDS ask They have pain in their joints muscles and even tendons which can be very severe These people usually find it difficult to function in everyday life because of the pain they suffer There are many other things that they can do when the pain becomes unbearable They could take painkillers or anti-inflammatory drugs but these are not always effective In such cases doctors often suggest surgery as an option for them to get relief from the pain.

Does Ehlers-Danlos qualify for disability?

Yes if you have undertaken an application for Social Security Disability benefits and been denied you could still be eligible for disability benefits If your claim was denied because the SSA found that you are capable of performing your past work but not any other type of work we can help.

Prevention Ehlers-Danlos Syndrome

Because it is genetic, you cannot save Ehlers-Danlos syndrome.

If you have a non-public or own family history of Ehlers-Danlos syndrome and you are thinking about starting a circle of relatives, you can benefit from talking to a genetic counselor — a healthcare expert educated to assess the risk of inherited issues. Genetic counseling permits you to recognize the inheritance sample of the sort of Ehlers-Danlos syndrome that impacts you and the risks it poses in your children.

Diagnosis Ehlers-Danlos syndrome(EDS)

Extremely unfastened joints, fragile or stretchy pores and skin, and a family history of Ehlers-Danlos syndrome are often sufficient to make a diagnosis. Genetic exams on a sample of your blood can verify the analysis in rarer kinds of Ehlers-Danlos syndrome and help rule out other troubles. For hypermobile Ehlers-Danlos syndrome, the most common form, there may be no genetic testing to be had.

Doctors use your own family history and several tests to diagnose Ehlers-Danlos syndrome. Your diagnosis may also contain:

  • Genetic testing: The maximum not unusual manner to become aware of the condition is to search for a faulty gene.

  • Biopsy: In a few cases, a doctor will use a check called a biopsy. In this take a look at, the health practitioner eliminates a pattern of pores and skin and examines it beneath a microscope to search for symptoms of the condition, which includes particular genes and gene mutations (abnormalities).

  • Physical exam: During a physical exam, doctors can see how a whole lot of the pores and skin stretches and how far the joints can move.

  • Imaging: Tests that provide pix of the internal of the frame can assist medical doctors pick out abnormalities which include heart function problems and curved bones. These checks include X-rays and computerized tomography (CT) scans.

Treatment Ehlers-Danlos syndrome(EDS)

Once your health practitioner is aware of which form of EDS you have got, you could speak approximately the way to manipulate your symptoms.There is no treatment for Ehlers-Danlos syndrome, but remedy will let you manipulate your signs and prevent further complications.


Your doctor may prescribe drugs to help you control:

  • Pain. Over-the-counter pain relievers — together with acetaminophen (Tylenol, others) , ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve) — are the mainstay of remedy. Stronger medicinal drugs are handiest prescribed for acute accidents.

  • Blood pressure. Because blood vessels are greater fragile in some types of Ehlers-Danlos syndrome, your doctor can also want to lessen the stress at the vessels by preserving your blood stress low.

Physical therapy

Joints with weak connective tissue are much more likely to dislocate. Exercises to bolster the muscle mass and stabilize joints are the number one remedy for Ehlers-Danlos syndrome. Your physical therapist might also advocate particular braces to assist save you joint dislocations.

Surgical and other procedures

Surgery can be recommended to restore joints broken by way of repeated dislocations, or to repair ruptured areas in blood vessels and organs. However, the surgical wounds may not heal properly because the stitches may additionally tear through the fragile tissues.

Lifestyle and home remedies

If you have got Ehlers-Danlos syndrome, it is vital to prevent injuries. Here are a few matters you could do to safeguard yourself.

  • Choose sports wisely. Walking, swimming, tai chi, recreational biking, or using an elliptical gadget or a desk bound motorbike are all true selections. Avoid contact sports, weightlifting and other activities that increase your risk of harm. Minimize pressure to your hips, knees and ankles.

  • Rest your jaw. To shield your jaw joint, avoid chewing gum, tough rolls and ice. Take breaks throughout dental work to shut your mouth.

  • Wear supportive shoes. To assist prevent ankle sprains, put on laced boots with correct arch support.

  • Improve sleep. Body pillows and top notch-dense foam mattresses can provide assistance and cushioning for painful joints. Sleeping in your facet may additionally help.

Coping and support

Coping with a lifelong illness is hard. Depending on the severity of your signs, you may face challenges at home, at paintings and in your relationships with others. Here are a few tips which can assist you cope:

  • Increase your knowledge. Knowing greater approximately Ehlers-Danlos syndrome allows you to take control of your circumstance. Find a health practitioner who is experienced inside the management of this sickness.

  • Tell others. Explain your situation to a circle of relatives, individuals, pals and your employer. Ask your business enterprise about any lodges that you feel will make you a more efficient employee.

  • Build a support system. Cultivate relationships with your own family and friends who are fantastic and worrying. It also may additionally assist to talk to a counselor or clergy member. Support businesses, either online or in person, assist people share commonplace reports and ability solutions to troubles.

Helping your child cope

If you are a figure of a toddler with Ehlers-Danlos syndrome, bear in mind these suggestions to assist your child:

  • Maintain normalcy. Treat your toddler like different children. Ask others — grandparents, aunts, uncles, teachers — to do the same.

  • Be open. Allow your toddler to express his or her feelings about having Ehlers-Danlos syndrome, even though it approaches being indignant at times. Make sure your child's instructors and different caregivers understand about your infant's circumstance. Review with them suitable caregiving abilities, especially inside the event of a fall or injury.

  • Promote safe activity. Encourage your baby to take part in bodily sports with suitable limitations. Discourage touch sports whilst encouraging non-weight-bearing activities, consisting of swimming. Your infant's medical doctor or physical therapist also may additionally have guidelines.

Preparing for your appointment

You might first bring your issues to the attention of your family medical doctor, but he or she may refer you to a medical doctor who focuses on genetic diseases.

What you can do

Before your appointment, you could want to put in writing a listing of answers to the following questions:

  • What types of symptoms are you experiencing?

  • Have your parents, grandparents or siblings had similar symptoms?

  • Has any blood relative died of a ruptured blood vessel or organ?

  • What medications and supplements do you take regularly?

What to expect from your doctor

Your doctor may ask some of the following questions:

  • Are any of your joints overly flexible?

  • Is your skin extra stretchy?

  • Does your skin heal poorly after injuries?

General summary

  1. You can lead a normal life with Ehlers-Danlos syndrome EDS does not affect your intelligence and it does not cause mental illness; the symptoms of EDS and its severity vary from person to person The most common physical symptoms are joint hypermobility skin that bruises easily and soft tissue that tears easily These symptoms may require frequent medical attention Treatment for EDS is aimed at relieving symptoms such as pain fatigue or gastrointestinal difficulties.

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