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Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome

Introduction to Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome, also known as joint hypermobility syndrome/ hypermobile Ehlers-Danlos Syndrome, is one of the rare diseases in the world, which stays undiagnosed for many years before symptoms start showing. This disease is often diagnosed late, and medications can only be given for chronic pain management.

A group of disorders happens inside the body of those suffering from Ehlers-Danlos syndrome, with the skin, ligaments, and joints being affected the most. The most common symptoms include; joint hypermobility, increased skin laxity, bruises easily all over the body due to poor wound healing, neurological and spinal manifestations, and abnormal scarring. It is one of the connective tissue disorders that change the framework of the collagen-producing genes, affecting everywhere in the body.

Connective tissues disorder

This connective tissue disorder is also linked with blood vessel fragility and organ involvement, which makes this a multi-system disorder. Many genetic mutations can be seen in such people, therefore dividing it into many different subtypes according to the most prominent feature the disease presents itself with.

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Pathophysiology of Ehlers-Danlos Syndromes (EDS)

As with many rare diseases, EDS is also caused due to a mutation in the genes. This genetic disorder causes the faulty production of type III collagen and type I collagen. The purpose of collagen is to provide stability and structure to the connective tissues of the body. Hence, it is required by the skin, bones, blood vessels, and internal organs. Due to a gene mutation, the metabolism of collagen gets defective, which leads to skin hyperextensibility, loss of structure, and joint hypermobility (overly flexible joints).

Since the mechanism through which collagen is formed is compromised in people suffering from Ehlers-Danlos syndrome, their skin, and other connective tissues lack structure or strength. Due to this reason, it does not sag or wrinkle. Therefore, people who suffer from Ehlers-Danlos syndrome do not have fine lines. Moreover, they have pretty distinct facial features due to their condition. As per clinical trials and studies, it has been observed that such individuals have a thin nose, small ear lobes, large eyes, and a thin upper lip area as well.

Different types of Ehlers-Danlos syndromes

There are around 14 different subtypes found to be associated with Ehlers-Danlos Syndrome. Due to the many different subtypes, morbidity and mortality differ slightly in them. However, the most severe form of Ehlers-Danlos syndrome type is classic EDS and vascular Ehlers-Danlos syndrome, which present with a different set of symptoms and can cause a health emergency at any time of the day. The common types are mentioned below;

Vascular Ehlers-Danlos Syndrome

Vascular Ehlers-Danlos Syndrome is a severe form of the disease. It is associated with thin skin, arterial and uterine fragility, also known as Ehlers-Danlos Syndrome type 4. These individuals suffer from easy bruising due to fragile blood vessels. The facial features of one suffering from vascular Ehlers-Danlos Syndrome are also very distinct as they have stretchy skin, thin lips, a small tongue, and a narrow nose.

This involves cardiovascular autonomic dysfunction, and hence it is also known as the cardiac valvular type of EDS. Vascular Ehlers-Danlos Syndrome comes with life-threatening complications such as coarctation of the aorta, intestinal perforation, and aneurysm. All of these conditions require quick surgical interventions, without which the person can die.

Classical Ehlers-Danlos Syndrome

Classical EDS is a combination of Ehlers-Danlos Syndrome type 1 and 2. The features of classical Ehlers-Danlos Syndrome are overly flexible joints, increased skin laxity, and easy bruising. The loose joints can cause fractures and pain, which can significantly lower the quality of life. The way classical Ehlers-Danlos Syndrome differs from vascular Ehlers-Danlos Syndrome is by the unique skin features, as ones with classical Ehlers-Danlos Syndrome have skin folds around their eyes.

Hypermobile Ehlers-Danlos Syndrome

Hypermobile Ehlers-Danlos Syndrome also presents many typical symptoms, such as; muscle fatigue, joint pain, loose joints, and valvular issues; they are also known as symptomatic joint hypermobility spectrum disorders. Moreover, an additional feature of degenerative joint disease is also seen with Hypermobile Ehlers-Danlos Syndrome.

Since many different organs are associated with this disease, many fatal organ ruptures and joint fractures lead to permanent disability.

Types of Ehlers-Danlos Syndrome (EDS) | PainScale https://images.app.goo.gl/SPDAvmEk7BE2Ya7N7

The pattern of inheritance

Ehler-Danlos syndrome can occur either due to autosomal dominant inheritance, autosomal recessive inheritance, or even through de novo mutations in the collagen gene. This makes genetic counseling one of the major forms of prevention from all types of Ehlers-Danlos Syndromes.

  1. Autosomal dominant inheritanceEither of the parents suffering from this rare disease is going to transmit it to their progeny. That also means it is equally likely to appear in both sexes carrying the autosomal dominant gene.
  2. Autosomal recessive inheritanceIn the autosomal recessive pattern, defective Ehlers-Danlos syndromes gene is present in the carrier; if both parents carry this autosomal recessive gene, their children will have a higher chance of being born with Ehlers-Danlos syndrome.
  3. De Novo mutationIt occurs due to any environmental or external factor which causes a mutation in the gene responsible for the synthesis of the collagen protein.

Signs and symptoms

Ehlers-Danlos Syndrome is a rare connective tissue disease, and therefore many of its symptoms relate to the musculoskeletal system due to the underlying genetic causes.

Following is the list of symptoms that can occur in individuals suffering from different Ehlers-Danlos Syndromes.

  • Mildly loose joints– Early onset of this disease usually starts with joints that are more mobile, which is why their normal range of motion is affected, which is called hypermobility of joints.
  • Joint pain– Individuals who suffer from EDS constantly complain of joint pain and have to be very careful with their movements as they can suffer from late-healing wounds.
  • Skin hyperextensibility– The decreased production of collagen results in very stretchy skin.
  • Loss of hearing– It has been seen through clinical trials that many people suffering from Ehlers-Danos Syndrome have hearing loss
  • Increased fatigue and muscle weakness– Due to a lack of structure in the connective tissues of the body, the body gets tired easily.
  • Brittle cornea syndrome– It is the thinning of the outermost layer of the eye leading to scarring or rupture of blood vessels even with the slightest amount of trauma, especially in the case of vascular EDS.
  • Frequent joint dislocations– Shoulder dislocation is very common, especially in patients with hypermobile Ehlers-Danlos syndrome.
  • Delayed wound healing– due to the fragility of blood vessels, not enough oxygen and nutrients are transported to the body, resulting in slow and delayed healing.

Diagnosis

Many medical professionals are not able to form an early diagnosis of Ehlers-Danlos Syndrome due to the complexity of its symptoms. One needs to correlate the clinical and genetic features in order to reach a diagnosis. Having a proper family history is very important, considering the disease can be due to autosomal recessive inheritance, making the parents completely clueless if they are carriers.

Diagnosis is made on a number of tests and clinical features, which are divided into minor and major criteria.

Minor criteria

The minor criteria include the presence of at least three of the following symptoms, and these can be due to an early onset of the disease;

  • Soft, thin skin
  • Increased skin fragility
  • Easy bruising
  • Pseudotumors
  • Subcutaneous nodules in the skin
  • Hernia

Major criteria

The major criterion for the diagnosis of all types of Ehlers-Danlos syndromes are as follows;

  • Skin hyperextensibility
  • Scarring
  • Joint hypermobility

Once a proper history, a physical examination is performed. All the clinical features are noted; there are other signs to look for and see whether the individual’s autonomic nervous system is affected or not.

There are also other connective tissue diseases that can mislead early diagnosis of hypermobile Ehlers- Danlos Syndrome, such as Marfan’s Syndrome. Moreover, vascular Ehlers-Danlos Syndrome has many cardiovascular complications, making the blood vessels severely compromised, which is also the case with many other congenital heart diseases. Therefore, Ehlers-Danlos Syndrome is confirmed only after genetic testing information to be sure if the individual is indeed suffering from this disease.

Treatment of Ehlers-Danlos Syndrome

Those who are diagnosed with Ehlers-Danlos Syndrome after a positive genetic test are referred to get treatment so that prevention of other fatal consequences can be prevented, such as the dislocation of a joint causing chronic pain. Since there is no definitive treatment for Ehlers-Danlos Syndrome, it can only be managed by giving certain medication so that symptoms present late and the pain can be managed.

Medicinal Management

Due to the complicated nature of this disease, no cure has been found of this disease. However, clinical trials are being conducted every day to make lives easier for the ones suffering from Ehlers-Danlos Syndrome and other such rare diseases. Since the disease is not diagnosed in the early stages of life, there is not much that can be done except manage the pain and the complications once the symptoms start to appear

Pain management

The pain experienced by individuals suffering from Ehlers-Danlos Syndrome requires analgesics to manage pain. However, with time these medicines do not work for them, and they have to switch to medicinal opioids.

Prolotherapy

Some of the structures have a poor blood supply, which is why they can struggle to heal on their own. It is the oxygen and nutrients in our blood supply that helps to heal these structures.

Prolotherapy involves the injection of a regenerative solution into these structures to provide a direct supply of what is required to heal and repair.

As the treatment is helping to treat the root cause of the problem, it is deemed to be a permanent fix.

Posture braces

They also require physiotherapy for their joints for a normal range of motion. This helps them recover from shoulder dislocations. In cases of severe joint hypermobility, braces are provided so that dislocations can be prevented. Vascular Ehlers-Danlos Syndrome (vascular type) is very different from the rest and requires the addition of blood thinners to prevent the formation of atherosclerotic plaques in the blood vessels.

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Surgical Management

This connective tissue disease can often require individuals to get surgical procedures done on them. Individuals who develop congenital multiple contractures require surgery for cosmetic reasons to release tension from these contractures.

Since the blood vessels of such individuals are prone to easy damage, they suffer from aortic dissection (clot in the major blood vessels), aneurysms, and other such problems, requiring urgent critical care management.

Ehlers-Danlos Syndromes and Genetic counseling

Since Ehlers-Danlos syndrome is one of the rare diseases that exists without a cure, many foundations have been formed to help those diagnosed with this condition. It is very important to counsel affected families with a positive family history to get their genetic tests done at their earliest to see if they have the mutated gene in them. Counseling should be targeted according to the pattern of inheritance.

Autosomal recessive pattern

Parents who carry recessive mutated genes of EDS can have children suffering from EDS (autosomal recessive disorder), with the rest being carriers. Therefore, the children of each such parent should get their partner’s genetic test done before having kids in order to avoid having children with EDS in an autosomal recessive manner.

Autosomal dominant inheritance

Any individual having an autosomal dominant gene of EDS is sure to suffer from symptoms of EDS. Such individuals are counseled not to have children, as their children due to their autosomal dominant pattern of EDS.

As there are many support groups for people suffering from chronic illnesses and rare diseases, there is also an Ehlers-Danlos support group formed by the Ehlers-Danlos National Foundation to help rehabilitate such people.

FAQ’s about Ehlers-Danlos syndrome

  1. What is the life expectancy of someone with Ehlers-Danlos syndrome?

According to statistics, it has been seen that the average life expectancy of individuals suffering from Ehlers-Danlos Syndrome is not more than 50 years.

  1. Why does EDS make you look younger?

Ehlers-Danlos Syndrome is a connective tissue disorder in which there is a loss of collagen fibers which are responsible for giving strength to the skin. Once it is lost, the stretchy skin becomes lax and smooth. Individuals who suffer from Ehlers-Danlos Syndrome are young-looking, with velvety skin, a small face, and a thin nose, making them look younger as if they have never aged. This is especially seen in the case of the vascular type/ vascular Ehlers-Danlos Syndrome.

  1. At what age is Ehlers-Danlos usually diagnosed?

Correct diagnosis of individuals suffering from Ehlers-Danlos Syndrome at a young age is rare. Therefore, it is mostly diagnosed when that person becomes an adult and exhibits symptoms of the disease. Ones with a positive family history might get an early diagnosis by ruling out the genetic causes. Vascular type is, however, diagnosed early as its symptoms can appear by the age of 10.

  1. What does Ehlers-Danlos’s pain feel like?

Patients of Ehlers-Danlos Syndrome suffer from chronic musculoskeletal pain, which is often due to a fracture of a joint or excessive stretch of ligaments. The joint pain can be due to overly flexible joints.

  1. What can be mistaken for Ehlers-Danlos?

Since there are other connective tissue ailments in which people suffer from overly flexible joints, hence the differential diagnosis established for individuals showcasing severe joint mobility is Marfan syndrome, Chronic Fatigue Syndrome, and Fibromyalgia.

  1. What do Ehler-Danlos syndrome eyes look like?

Those who suffer from EDS have prominent bulging eyes. Moreover, they have a flat cornea making them susceptible to brittle cornea syndrome, myopia, and corneal rupture.

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