What are the Characteristics of Ehlers-Danlos Syndrome?

When you have Ehlers-Danlos syndrome (EDS), the connective tissues in your body become weak.

Tendons and ligaments are examples of connective tissue, which holds various sections of your body in place. In EDS, both tendon and ligaments are affected, and they can not function properly. EDS can also cause your joints to get swollen and your skin to become thin and easily damaged. Blood vessels and organs can also be weakened as a result of this EDS.

Although there is no treatment for EDS, the symptoms may typically be controlled and treated.

General Signs and Symptoms of Ehlers-Danlos Syndromes

The Ehlers-Danlos disorders are characterized by widespread pain and tiredness. Joint and skin signs of an EDS are common and may include the following symptoms:

Joints

In addition to joint pain (arthralgia) and deformity, muscle pain (myalgia) and nerve pain (neuralgia) are also common. Other conditions include loose/unstable joints that are prone to frequent dislocations and subluxations and injury, muscle weakness, weakness of the voice box and larynx, hernias, pelvic floor weakness and prolapses of the rectum, bladder or vaginal wall, and

Skin

Skin that is soft and velvety in appearance; variable skin hyper-extensibility; delicate skin that rips or bruises easily (bruising may be severe, resulting in clots under the skin (hematoma)); severe scarring; delayed and poor wound healing; development of molluscoid pseudotumors (fleshy lesions associated with scars over pressure areas).

Less Common

Blood vessel/intestinal/uterine fragility or rupture (usually associated with the vascular type of EDS (vEDS); scoliosis at birth and scleral fragility (usually associated with the Kyphoscoliotic Type of EDS, kEDS); poor muscle tone, congenital hip dislocations, and severe gum disease are all symptoms of EDS.

Co-morbidities

Many diseases, including EDS and its hypermobile form, are connected with the condition (hEDS). Among the most widespread of these are upper and lower gastrointestinal tract complications, such as swallowing difficulties and constipation; autonomic disturbances of heart rate and blood pressure, as well as bowel and bladder function and temperature regulation; and organ / systemic inflammation caused by mast cell activation.

Characteristic signs of  different EDS types

Thirteen different varieties of Ehlers-Danlos syndromes (EDS) exist, with a high degree of overlap in their characteristics. The types and their characteristic signs are:

  • Hypermobile EDS – The inflammatory joint disease of the spine (EDS) is characterized by joint hypermobility affecting both big and small joints, resulting in repeated joint dislocations and subluxations (partial dislocation). In general, persons with this type of skin have soft, smooth, and velvety skin, with manageable bruising and persistent discomfort due to their genetic makeup in the muscles or bones.
  • Classical EDS – Classical EDS is linked with very elastic (stretchy) and smooth skin that is fragile and bruises readily; broad, atrophic scars (flat or sunken scars); and hypermobility of the joints. Additionally, moluscoid pseudotumors (calcified hematomas at pressure sites such as the elbow) and adipose spheroids (fat-containing cysts) on the forearms and shins are common. It is possible to experience hypotonia and delayed motor development.
  • Vascular EDS – characterized by thin, transparent skin that is highly delicate and prone to bruising and bleeding. Additionally, arteries and specific organs, such as the intestines and uterus, are vulnerable to rupture. This kind is distinguished by low stature, sparse scalp hair, and distinctive facial characteristics such as big eyes, a narrow nose, and ears devoid of lobes. Hypermobility of the joints is present, although it is primarily restricted to the tiny joints in most people (fingers, toes). In addition to a club foot, tendon and muscle rupture, acrogeria (early aging of the skin of the hands and feet), pneumothorax (collapse of a lung), the recession of the gums, and a reduced quantity of fat under the skin are also frequent.
  • Kyphoscoliosis EDS – When a child is born with severe hypotonia, delayed motor development, progressive scoliosis (which is evident from birth), and scleral fragility, it is known as kyphoscoliosis EDS. Other symptoms include accessible bruising, weak blood vessels susceptible to rupture, abnormally tiny corneas, and osteopenia (low bone density). In addition, the “marfanoid habitus,” which is marked by long, thin fingers (arachnodactyly), abnormally long limbs, and a sunken chest (pectus excavatum) or projecting chest (pectus protrudum), are all present (pectus carinatum).
  • Arthrochalasia EDS – Extreme joint hypermobility and congenital hip dislocation are two characteristics of Arthrochalasia EDS. Other characteristics include delicate, elastic skin prone to bruising; hypotonia; kyphoscoliosis (both kyphosis and scoliosis); and moderate osteopenia.
  • Dermatosparaxis EDS – The skin is highly delicate, resulting in severe bruising and scarring, as well as sagging, redundant skin, particularly on the face, and hernias in those with Dermatosparaxis EDS.
  • Brittle Cornea Syndrome (BCS) – A thin cornea, early-onset progressive keratoglobus, and blue sclerae are hallmarks of Brittle Cornea Syndrome (BCS).
  • Classical like EDS (clEDS) – It is distinguished by skin hyperextensibility with velvety skin texture and deficiency of atrophic scarring, generalized joint hypermobility with or without recurrent dislocations (most commonly of the shoulder and ankle), easily bruised skin or spontaneous ecchymoses, and recurrent dislocations (most widely of the shoulder and ankle) (discolorations of the skin resulting from bleeding underneath).
  • Spondylodysplastic EDS (spEDS) – which is defined by low stature (which progresses throughout childhood), muscular hypotonia (which can range from severe congenital to moderate later-onset), and bending of the limbs at the elbows.
  • Musculocontractural EDS (mcEDS), which is characterized by multiple congenital contractures, which are typically adduction-flexion contractures or talipes equinovarus (clubfoot), which are evident at birth or in early infancy, and skin features such as easy bruisability, skin hyperextensibility, skin fragility with atrophic scars, and increased palmar wrinkling.
  • Myopathic EDS (mEDS) – is a kind of EDS characterized by congenital muscular hypotonia or muscle atrophy that improves with age. Hypermobility of distal joints and contractures of proximal joints (joints of the knee, hip, and elbow) (ankles, wrists, feet, and hands).
  • Periodontal EDS (pEDS) is defined by severe and persistent periodontitis of early start (childhood or adolescent), lack of connected gingiva, pretibial plaques, and a family history of a first-degree relative who fits clinical criteria.
  • Cardiac valvular EDS (cvEDS) – Aortic valve disease and mitral valve disease are two types of cardiac-valvular EDS characterized by significant progressive cardiac-valvular difficulties (aortic and mitral valves), skin problems (hyperextension, atrophic scars, thin skin, easy bruising), as well as joint hypermobility.

Causes of EDS

EDS occurs when your body fails to produce a protein called collagen in the proper amount or manner, as is the case with certain people. In your body’s bones, skin, and organs, collagen assists in the formation of the connective tissue that holds them all in place. Such structures may be weak and more prone to issues if there is a problem with them.

Eczema is considered to be a hereditary condition. That indicates that it is something you get from your parents. Having this disease is more likely to occur if one of your parents has it.

Diagnosis

Ehlers-Danlos syndrome is diagnosed by your doctor based on your family history and a variety of tests. You may be diagnosed with:

  • Genetic testing: When looking for a defective gene, the most frequent method of diagnosing the disease is genetic testing.
  • Biopsy: A biopsy is a kind of test that a doctor may conduct in specific situations. A sample of skin is collected and examined under a microscope to check for indications of the illness, such as particular genes and gene mutations, that may indicate the presence of the disease (abnormalities).
  • Physical exam: Doctors can determine how much the skin can stretch and how far the joints can move without being damaged when performing a physical exam.
  • Imaging: Images of the inside of the body obtained by imaging tests can assist physicians in the detection of anomalies such as heart function issues and bent bones. X-rays and computed tomography (CT) scans are among the procedures that are used to diagnose patients.

Treatment

The kind of EDS you have will be determined by your doctor, after which you may explore the best way to treat your symptoms. A variety of doctors, including the following, may be required to treat you.

  • a doctor who specializes in joint and skeleton disorders, such as an orthopedist
  • Dermatologist: a physician who specializes in the treatment of dermatological diseases.
  • A rheumatologist is a specialist that specializes in illnesses that affect the connective tissues of the body, such as arthritis.

Following are some examples of therapy options:

  • Improve muscular tone and coordination with physical therapy and exercise. You might be less prone to dislocate a joint if you have stronger muscles. Walking, swimming, low-impact aerobics, and bicycling are all excellent options for getting your heart rate down.
  • If you need help getting around, you can use braces or other assistive equipment such as a wheelchair or scooter.
  • Supplements containing calcium and vitamin D aid in the strengthening of the bones.
  • Medications available over-the-counter to relieve joint discomfort may require prescription medicine if none of these options work for you.
  • Because of the possibility of pain difficulties during pregnancy, women with EDS may require extra attention when they are pregnant.

Living with EDS

It is possible to make daily living simpler by doing some of the following:

  • Brush your teeth with soft-bristled toothbrushes.
  • It is possible to reduce finger strain by using thick pens or pencils.
  • Protect your knees and elbows with protective gear or padding to avoid bruises or wounds.
  • Do not participate in contact sports or high-impact activities such as running or skiing.

Another option is to seek the assistance of a therapist, counselor, or support group to help you cope more effectively with the changes in your life.

Do Ehlers-Danlos syndromes affect a large proportion of the population?

It is estimated that between 1 in 3,500 and 1 in 5,000 persons have one Ehlers-Danlos syndrome. Because it can be overlooked or misdiagnosed as something else, the hypermobile variety (hEDS) is by far the most frequent kind, and it may even be more widespread than that.

According to the National Institutes of Health, one in 40,000 – 200,000 people have it, and some are ultrarare, meaning they only occur in less than one in a million people. Individuals from various racial and ethnic origins are impacted by EDS, which can manifest itself as problems from birth and worsen through time.

What is the genetic basis of Ehlers-Danlos syndromes?

Autosomal dominant and autosomal recessive inheritance patterns have been identified for the Ehlers-Danlos syndromes.

What is a hypermobility spectrum disorder (HSD)?

The mechanism of pain in the joints and muscles of certain persons is comparable to that observed in EDS. These patients experience joint hypermobility, joint instability, damage, and discomfort in their joints and muscles. Other connective tissue problems such as skin, gums, bowel, and blood vessel rupture are not present in these individuals. As a result, they do not show signs of EDS or any other hypermobility-related connective tissue disorders such as Marfan syndrome or Loeys-Dietz syndrome, among other things, are absent in these individuals. The term hypermobility spectrum disorder (HSD) is used in this circumstance since there is no alternative explanation for the hypermobility, instability, and joint and muscle damage.

HSD, like EDS, has been linked to several co-morbidities, including depression. A few of the most common of these are nausea and vomiting; acid reflux; bloating; pain; concerns about absorption and food intolerance; autonomic disturbances of heart rate and blood pressure, bowel and bladder function, and temperature regulation; anxiety; depression; fear and phobias; and organ / systemic inflammation associated with mast cell activation.

According to an extensive population survey of medical data, the prevalence of HSD may be in the range of 1 in 500 to 1 in 600. Due to the possibility of it being overlooked or misdiagnosed as something else, HSD may be more prevalent than previously thought.

An EDS or HSD is diagnosed in the following ways:

A diagnosis of one of the Ehlers-Danlos syndromes or hypermobility spectrum diseases, particularly if someone in your immediate family has been diagnosed, should be sought from your doctor if you believe you would be suffering from one of these conditions. While any doctor capable of analyzing a disease can diagnose EDS and HSD, it is more likely that you would be referred to someone knowledgeable about these diseases and capable of performing the testing necessary to differentiate EDS and HSD.

Because while EDS and HSD are not curable, they are treated, it is critical to have a proper diagnosis. You and your medical team will better understand where problems may have originated and why they occur if you and your medical team know what form of EDS or HSD you are dealing with. The focus given to EDS and HSD is increasing as more people are diagnosed, resulting in more treatment, education, and research into these disorders that will lead to improved health outcomes.

When seeking an EDS or HSD diagnosis, your doctor will first take a thorough history of your issues, followed by a physical examination that will examine your joints, skin, and any other areas of your body that may be impacted. Medical information from your family’s medical history may also be beneficial.

Identifying an EDS subtype is accomplished by selecting the one that most closely fits your symptoms and the diagnostic criteria for your condition. Your signs and symptoms will be compared to the major and minor criteria to determine which subtype is the most closely related to your symptoms and signs. EDS subgroups and other connective tissue diseases, such as HSD, share significant symptom overlap; yet, they also differ significantly in their clinical presentations. Consequently, a definite diagnosis for all EDS subtypes (except hypermobile EDS (hEDS)) requires confirmation by gene testing to identify the relevant variables for each gene affected in each subtype. Hypermobile EDS (hEDS) is an exception to this rule.

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