Why is it difficult for Doctors to Treat Ehlers-Danlos Syndrome?

 

Ehlers-Danlos syndrome is a hereditary disease that leads to abnormal collagen bundles. These defective collagen bundles are particularly evident in tissues with a high collagen fiber concentration, such as the skin, arteries, gastrointestinal tract, and ligaments.

Due to defective collagen in almost all the tissues, it is difficult for doctors to treat EDS. So, the doctors are bound to treat the EDS patients with symptomatic or casual treatment until advances in gene therapy can address the underlying gene defects responsible for defective collagen.

The successful treatment of anesthetics in patients with EDS necessitates a thorough grasp of the role of collagen in the body’s different tissues. In individuals with EDS, collagen-rich tissue fragility, hyperextensibility of skin and joints, hematoma development, and cardiovascular illness are only a few risks considered before any anesthetic treatment involving the patient. Anesthesiologists should be aware that any manual manipulation of EDS patients has the potential to cause damage to the patient. Because of these challenges, treating this condition has proven to be a challenging undertaking for clinicians.

Symptoms of Ehlers-Danlos syndromes which makes it difficult to cure

There are numerous kinds of EDS, each of which exhibits some of the same symptoms which are difficult to cure. These are some examples:

  • Joint hypermobility
  • Swollen and stretched skin
  • Brittle skin that is prone to breaking or bruising

EDS can have a variety of effects on various persons. Some people have minor symptoms, while others have severe symptoms that can be debilitating in their daily lives. The many forms of EDS are caused by mutations in specific genes that cause connective tissue to become weaker in various ways.

In certain types of EDS, the defective gene may have been acquired from one parent, while in others, it may have been inherited from both parents.

In some instances, the defective gene is not passed down via the family but instead appears in the person for the first time. Some of the uncommon and severe kinds might be life-threatening in certain circumstances.

Ehlers-Danlos syndromes (EDS) types symptoms that are difficult to treat

There are 13 different forms of EDS, the majority of which are incredibly uncommon.

It is the most prevalent form of EDS, known as hypermobile EDS (hEDS).

There are several kinds of EDS, including classical EDS, vascular EDS, kyphoscoliotic EDS, and others. All the symptoms of EDS types that are difficult to treat by doctors are given below.

Hypermobile EDS Symptoms

People who have hEDS may suffer from the following symptoms:

  • Hypermobility of the joints.
  • Loose and unstable joints.
  • Discomfort in the joints as well as clicking joints.
  • Severe exhaustion (fatigue).
  • Sensitive skin that bruises easily.
  • Digestion issues, such as heartburn and constipation.
  • Feeling dizzy and having a rapid heart rate after getting out of bed.
  • Issues involving the internal organs, such as mitral valve prolapse or organ prolapse;
  • Difficulties controlling one’s bladder (stress incontinence).

The diagnosis is determined after reviewing the patient’s medical history and doing a physical examination.

Classical EDS Symptoms

Classical EDS (cEDS) is a kind of EDS that is less prevalent than hypermobile EDS and has a greater tendency to damage the skin.

People who have cEDS may suffer from the following symptoms:

  • Hypermobility of the joints.
  • Loose and unstable joints.
  • Swollen and stretched skin.
  • Delicate skin that is prone to splitting, particularly on the forehead, knees, shins, and elbows.
  • Skin that is smooth and silky, yet that bruises readily.
  • Wounds that take a long time to heal and leave a large scar.
  • Hernias and organ prolapse.

Vascular EDS Symptoms

An uncommon variant of EDS, vascular EDS (vEDS), is typically regarded as the most severe of the several types of EDS.

It affects blood vessels as well as internal organs, causing them to split apart and resulting in life-threatening bleeding if left untreated.

People who have vEDS show the following symptoms:

  • Susceptible skin that bruises very easily
  • Small blood veins may be seen in the skin of the upper chest and legs, which are extremely thin.
  • Fragile blood vessels that are prone to bulging or tearing, resulting in severe internal bleeding

Kyphoscoliotic EDS Symptoms

People who have kEDS may suffer from the following symptoms:

  • Scoliosis (curvature of the spine)
  • hypermobility of the joints
  • Lose and unstable Joints that are prone to dislocation
  • Hypotonia is a condition in which muscle tone is weak from childhood. If symptoms worsen, this may result in a delay in sitting and walking or difficulties walking altogether.
  • Delicate and easily injured eyes
  • Silky, velvety skin that stretches readily, bruises quickly, and scars easily.

Getting Medical Guidance

Consult your doctor if you are experiencing multiple troubling symptoms of EDS. If you have a few signs and aren’t creating any difficulties, you typically don’t need to worry about it.

Joint hypermobility, for example, is a reasonably common condition that affects around one in every thirty persons. As a result, if you do not have any additional symptoms, it is doubtful that EDS causes it.

If you are experiencing joint pain and your doctor suspects that you have EDS, your doctor may send you to a joint specialist (rheumatologist).

If there is a potential that you may have one of the uncommon kinds of EDS, your doctor can send you to a genetics clinic in your area for further evaluation.

The local genetics specialist will ask you questions about your medical history and family history, evaluate your symptoms, and may do a genetic blood test to confirm the diagnosis if it is necessary.

Treatment of Ehlers-Danlos Disorders

Although there is no particular therapy for EDS, it is feasible to manage many of the symptoms with the help of others and professional assistance.

People who suffer from EDS may also benefit from the assistance of a variety of other healthcare specialists.

As an illustration:

  • If you suffer from joint discomfort or injury, a physiotherapist can give you exercises that will help to strengthen your joints, prevent injuries, and manage pain.
  • An occupational therapist can assist you in managing your daily tasks and recommend devices that may be beneficial to you.
  • If you’re having trouble coping with long-term discomfort, counseling and cognitive behavioral therapy (CBT) may be beneficial.
  • When it comes to certain types of EDS, regular scans performed in a hospital setting can detect issues with internal organs.
  • Genealogical counseling can assist you in learning more about the underlying cause of your condition, how it is passed down through families, and the risks associated with passing it down to your children.

These services might be referred to you by your primary care physician or a consultant.

Doctors advise to Ehlers-Danlos syndromes (EDS) patients

It is critical to exercise caution when participating in activities that place a significant amount of strain on your joints or may put you at risk of injury.

However, it is essential not to be overprotective and to maintain a regular way of life in the meanwhile.

The type of EDS you have and how it affects you will determine the sort of advice you receive:

  • You may be recommended to refrain from participating in some activities completely, such as heavy lifting or contact sports.
  • If you participate in certain activities, you may be required to wear proper protective equipment and be instructed to limit the strain on your joints.
  • It may be suggested to engage in lower-risk sports such as swimming or pilates to assist you in maintaining your fitness and health.
  • For example, if you are experiencing weariness, you may learn how to preserve your energy and pace your actions.

How is Ehlers-Danlos Syndromes (EDS) Inherited?

EDS can be passed down via families, but it can also develop by accident in people that do not have a family history of the illness.

The two most common methods in which EDS is passed along are as follows:

  • Autosomal dominant inheritance (classical, hypermobile, and vascular EDS) – In this kind of heredity, the defective gene that causes one parent passes on Ehlers Danlos Syndrome, and each of their offspring has a chance of having the illness.
  • In the case of autosomal recessive inheritance (kyphoscoliotic EDS), the defective gene is inherited from both parents, and each of their offspring has a 25 percent chance of acquiring the disease.

It is only possible for a person with EDS to pass on the same type of EDS to their offspring. For example, offspring of someone who has hypermobile EDS will not pass on vascular EDS to their children.

Within the same family, the severity of the disease might differ significantly.

Ehlers-Danlos Syndromes and Surgical Intervention

Surgery has three significant challenges as a result of the EDS:

  • This results in a reduction in tissue strength, which renders the tissue less suited for surgery.
  • Because of the fragility of the blood arteries, complications might arise during surgery.
  • Wound healing is frequently slowed or stopped entirely.

Chronic temporomandibular dislocation in EDS patients complicates orthodontic surgery, which is already difficult enough.

It is more likely that individuals with EDS may get hemorrhages after receiving local anesthesia, using arterial catheters, or central venous catheters.

Surgery necessitates careful tissue handling as well as a prolonged period of immobilization following the procedure.

Ehlers-Danlos Syndromes and Pregnancy

Obstetrical complications

  • Varicose veins, hemorrhoids, and vulval varicosities are more prevalent in people with EDS than in the general population.
  • This is especially true for patients with EDS who suffer from chronic reflux, which can exacerbate their symptoms during pregnancy.
  • In pregnancy, edema is frequent; however, the increased flexibility of blood vessels in EDS may aggravate symptoms. Women who have EDS may suffer carpal tunnel syndrome symptoms that are more severe and appear sooner in the condition.
  • Women who have EDS may be more susceptible to nausea, vomiting, and vertigo than the general population. The majority of the recommended therapies have not been proven to be effective in clinical trials.
  • Many patients with EDS suffer from frequent headaches, which worsen during the first trimester of pregnancy.
  • Tinnitus is common in patients with EDS, caused by the instability of the bones in the middle ear. This issue may be worse during pregnancy.
  • Women who have EDS must take special precautions to keep their joints safe during pregnancy. Musculoskeletal symptoms that are more frequent in pregnant women with EDS include, but are not limited to:
  • Pelvic girdle discomfort (symphysis pubis dysfunction).
  • Lower back discomfort.
  • Musculoskeletal discomfort is widespread. Increasing laxity in the EDS joints and tissues may result in the onset or exacerbation of discomfort. People with EDS frequently have impaired proprioception, which might cause them to lose their balance during pregnancy.

Symptoms of EDS include palpitations and ectopic beats, which can become more severe during pregnancy. The majority of pregnant women experience changes in their breasts. Because of the hyperelastic skin of a lady suffering from EDS, more support is required. People who have EDS are more likely to get stretch marks in general. People who have EDS are more susceptible to anxiety and sadness than the general population. It is critical to treat mental health concerns during pregnancy to minimize the probability of developing postnatal depression.

Problems throughout the Delivery

  • As a result of the fragility of connective tissue, people suffering from EDS are more susceptible to pre-labor spontaneous rupture of membranes (SROM), resulting in premature birth. It is more likely that kids will have EDS if they are born before the woman’s due date.
  • When it comes to people with vEDS, pregnancy can be hazardous. Pregnancy-related problems include the possibility of uterine rupture during labor and the danger of hemorrhage and rupture of blood vessels as well as the colon during the puerperium.
  • Although it is not entirely understood, it is not unusual for people suffering from EDS to negatively react to lidocaine (used in epidurals). An antenatal anesthetist evaluation should be made available.
  • General anesthetics can substantially decrease blood pressure in persons with EDS because of the dysautonomia present in many of them.
  • Women who have EDS are more likely to have a premature delivery, which increases the risk of tissue damage to the baby.
  • Fetal malposition is more prevalent than you may think, with chronic occipito-posterior or even occipito-transverse presentations being particularly common. Although women without EDS may have a difficult second stage with similar presentations, women with EDS may have little difficulty, and caregivers must avoid transitioning women to assisted delivery too soon after pregnancy diagnosis.
  • Women suffering from EDS may be more susceptible to postpartum hemorrhage.
  • Women with EDS have delicate skin prone to ripping and may require more time to heal than other women. Extra precautions should be taken during childbirth to avoid injury to the vaginal and perineal tissues.
  • Dissolvable sutures may disintegrate too soon if applied to EDS skin, which heals more slowly than normal skin. Perineal repair should be performed using silk sutures, if possible.

Prognosis in the Ehlers-Danlos Syndromes

  • The prognosis will vary depending on the kind and severity of cancer.
  • Except for the vascular kind, life expectancy is typically expected.
  • While milder instances of EDS may have no noticeable impact on daily living, many individuals with EDS suffer from a considerable or severe impairment.
  • Some families are affected with EDS, which is associated with a high prevalence of severe consequences.
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