Ehlers-Danlos syndrome

Alternative Name : Cutis hyperelastica

Definition:
Ehlers-Danlos syndrome (EDS)  encompasses several types of inherited connective tissue disorders  that affect your connective tissues — primarily your skin, joints and blood vessel walls. Ehlers-Danlos syndrome is uncommon.

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This results in hyperelastic skin that’s fragile and bruises easily, excessive looseness of the joints, blood vessels that are easily damaged and, rarely, rupture of internal organs.

The syndrome is named after two doctors, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France, who identified it at the turn of the 20th century.

There are six major types of EDS, categorised according to signs and symptoms, and the condition can range from mild to life-threatening.

1.Hypermobility -Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant or autosomal recessive mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant. Extreme flexibility is the hallmark of this type.

2.Classical -Affects approximately 1 in 20,000 to 50,000 people. It is caused by autosomal dominant mechanism and affects type-V collagen, as well as type I. Type 1 typically presents with severe skin involvement, and type 2 presents with mild to moderate skin involvement.

3.Vascular-Is an autosomal dominant defect in the type-III collagen synthesis; affecting approximately 1 in 100,000 to 250,000 people. The vascular type is considered one of the more serious forms of Ehlers–Danlos syndrome because blood vessels and organs are more prone to tearing (rupture). Patients with EDS type 4 often express a characteristic facial appearance (large eyes, small chin, thin nose and lips, lobeless ears), have a small stature with a slim build, and typically have thin, pale, translucent skin (veins can usually be seen on the chest and abdomen). About one in four people with vascular type EDS develop a significant health problem by age 20 and more than 80 percent develop life-threatening complications by age 40.

4.Kyphoscoliosis-Is an autosomal recessive defect due to deficiency of an enzyme called lysyl hydroxylase; it is very rare, with fewer than 60 cases reported. The kyphoscoliosis type is characterised by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness.

5.Arthrochalasis-Is also very rare, with about 30 cases reported. It affects type-I collagen. The arthrochalasia type is characterised by very loose joints and dislocations involving both hips.

6.Dermatosparaxis -Also very rare, with about 10 cases reported. The dermatosparaxis type is characterised by extremely fragile and sagging skin.

Epidemiology:-
Ehlers–Danlos Syndrome is an inherited disorder estimated to occur in about 1 in 5000 births worldwide. Ehlers–Danlos affects both males and females of all racial and ethnic backgrounds. Initially, prevalence estimates have previously ranged from 1 in 250,000 to 1 in 500,000 people, but these estimates were soon found to be vastly inaccurate as the disorder received further study and medical professionals became more adept at accurately diagnosing EDS. The prevalence of the six types differs dramatically. The most commonly occurring type is the hypermobility type, followed by the classical type. The other types of EDS are very rare. For example, fewer than 10 infants and children with the dermatosparaxis type have been described worldwide

Symptoms:-
Signs vary widely based on which type of EDS the patient has. In each case, however, the signs are ultimately due to faulty or reduced amounts of collagen. EDS most typically affects the joints, skin, and blood vessels, the major signs and symptoms include:

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*Highly flexible fingers and toes……..
*Loose, unstable joints that are prone to: sprain, dislocation, subluxation (partial dislocation) and *hyperextension (double jointedness)
*Flat feet
*Joint pain without inflammation
*Fatigue, which can be debilitating
*High and narrow palate, resulting in dental crowding
*Vulnerability to chest and sinus infections
*Easy bruising
*Fragile blood vessels resulting from cystic medial necrosis with tendency towards aneurysm (even abdominal aortic aneurysm)
*Velvety-smooth skin which may be stretchy and is often translucent, with blue veins clearly visible on limbs and particularly in the hands
*Abnormal wound healing and scar formation (scars may appear like cigarette burns)
*Low muscle tone and muscle weakness
*Early onset of osteoarthritis
*Cardiac effects: Dysautonomia typically accompanied by Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse)
*Unexplained “pins and needles” or numbness in extremities
*Difficulty regulating own body temperature, resulting in a vulnerability to the cold and heat. Many patients suffer fatigue and dizziness when exposed to hot conditions, eg. having to sit outside on a hot day
*Severe mouth ulcers. Many patients complain of having several mouth ulcers at any one time. This is believed to be due to tissue fragility and vulnerability to infection
*Food allergies and intolerances are very common
*Sensitivity to medications. Many pain medications cause Nausea and other GI tract complications. *Functional bowel disorders associated with EDS make it very difficult to find safe, effective pain management
Insensitivity to local anesthetics.
*Migraines and headaches, including postural headaches from spontaneous intracranial hypontension
*Fibromyalgia symptoms: Myalgia and arthralgia.
*Arachnodactyly

Other, less common signs and complications may include:

*Osteopenia (low bone density)
*Talipes equinovarus (club foot), especially in the Vascular type
*Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility,[9] Arnold-Chiari malformation (brain disorder)
*Functional bowel disorders (functional gastritis, irritable bowel syndrome)
*Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy)
*Vascular skin conditions: Raynaud’s phenomenon, Livedo reticularis
*Blue sclera
*Otosclerosis (hearing loss)
*Premature rupture of membranes during pregnancy
*Platelet aggregation failure (platelets do not clump together properly)
*Infants with hypermobile joints often appear to have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking
*Arterial/intestinal/uterine fragility or rupture
*Swan neck deformity of the fingers

Because it is often undiagnosed or misdiagnosed in childhood, some instances of Ehlers–Danlos syndrome have been mischaracterized as child abuse. The pain associated with this condition is a serious complication.

Causes:-
The types of Ehlers-Danlos syndrome are caused by a variety of genetic alterations (mutations), passed on from parent to child, that disrupt the normal production of collagen. Collagen is a fibrous protein that gives strength and elasticity to connective tissues — skin, tendons, ligaments, cartilage, and organ and blood vessel walls.

These genetic mutations alter normal enzyme activity, leaving connective tissues weak and unstable.

Variety of inheritance patterns
Most EDS types are passed along in an inheritance pattern called autosomal dominant. This means you need only one copy of the disease-causing mutation, inherited from either parent, to develop signs and symptoms of the disease. If you inherit the mutation, each of your children will have a 50 percent chance of inheriting the mutation from you.

 

Diagnosis:-
A diagnosis can be made by clinical observation. Both DNA and biochemical studies can be used to help identify affected individuals. In some cases, a skin biopsy has been found to be useful in confirming a diagnosis. Unfortunately, these tests are not sensitive enough to identify all individuals with EDS. If there are multiple affected individuals in a family, it may be possible to perform prenatal diagnosis using a DNA information technique known as a linkage study.

Differential diagnosis:
There are several disorders that have some of the characteristics of Ehlers–Danlos syndrome. For example, in cutis laxa the skin is loose, hanging, and wrinkled. In EDS, the skin can be pulled away from the body but is elastic and returns to normal when let go. In Marfan syndrome, the joints are very mobile and similar cardiovascular complications occur. In the past, Menkes disease, a copper metabolism disorder, was thought to be a form of Ehlers–Danlos syndrome. Because of these similar disorders, a correct diagnosis is very important.
Treatment:-
There is no cure for Ehlers Danlos Syndrome. The treatment is supportive. Close monitoring of the cardiovascular system, physical therapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing) may be helpful. One should avoid activities that cause the joint to lock or overextend.

Doctor may prescribe bracing to stabilize joints. Surgical repair of joints may be necessary at some time. Physicians may also consult a physical and/or occupational therapist to help strengthen muscles and to teach people how to properly use and preserve their joints. To decrease bruising and improve wound healing, some patients have responded to ascorbic acid (vitamin C) by taking 1 to 4 grams daily.

Physical therapy:
Your doctor may refer you to a physical or occupational therapist with specific exercises to strengthen your muscles without causing injury. For most people with EDS, strengthening muscles helps to stabilize joints and reduce muscle fatigue and pain. In addition, your doctor or physical therapist may recommend specific braces to help stabilize joints.

In general, medical intervention is limited to symptomatic therapy. Prior to pregnancy, patients with EDS should have genetic counseling. Children with EDS should be provided with information about the disorder, so they can understand why contact sports and other physically stressful activities should be avoided. Children should be taught early on that demonstrating the unusual positions they can maintain due to loose joints should not be done as this may cause early degeneration of the joints. Family members, teachers and friends should be provided with information about EDS so they can accept and assist the child as necessary.

Lifestyle and home remedies:-
If you have EDS, it’s important to prevent injuries and protect your skin and joints. Here are a few things you can do to safeguard yourself.

*Avoid injury. Avoid contact sports, weightlifting and other activities that increase your risk of injury.

*Use protective gear. Toddlers and young children with severe EDS often dislocate joints and frequently fall down, especially when learning to walk. Consider using protective clothing, guards or padding to protect your child from tumbles and falls.

*Reduce the clutter. To prevent falls and injuries at home, keep walkways and doorways clear of clutter. Avoid loose rugs and electric cords, which can increase your risk of tripping and falling.

*Use assistive devices. Several devices are available to help decrease stress on your joints, such as jar openers, utensils with wide handles, long-handled combs and bath sponges.

*Use mild soaps and sunscreen. To protect easily damaged skin and to guard against premature aging, use mild soaps and wear sunscreen when you’re outside.

Coping and support:-
Coping with a lifelong illness is challenging. Depending on the severity of your symptoms, you may face challenges at home, at work and in your relationships with others.

Here are some suggestions that may help you cope with the challenges of Ehlers-Danlos syndrome:

*Increase your knowledge. Knowing more about EDS can help you take control of your condition. Find a doctor who’s experienced in the management of EDS and learn as much as you can about the type of EDS you have.

*Tell others. Explain your condition to family members, friends and your employer. Ask your employer about any accommodations that you feel will make you a more productive worker. It’s up to you how much information you divulge to your co-workers. You may want to prepare appropriate responses for people who ask questions.

*Build a support system. Cultivate relationships with family and friends who are positive and caring. It may also help to talk to an unrelated third party, such as a medical social worker, counselor or clergy member. Some people find help by joining a support group for people with EDS or people with chronic illnesses. The Ehlers-Danlos National Foundation’s Web site has information on local and regional support groups.

Helping your child cope:
If you are a parent of a child with EDS, consider these suggestions to help your child:

*Maintain normalcy. As much as possible, treat your child like normal children. Ask others — grandparents, aunts, uncles, teachers — to do the same.Be open. Allow your child to express his or her feelings about having EDS, even if it means being angry at times. Parents of children with EDS have sometimes encountered suspicions of child abuse because of frequent bruises and cuts.Make sure your child’s teachers and other caregivers know about your child’s condition. Review with them appropriate caregiving skills, particularly in the event of a fall or injury.

*Promote activity. Allow your child to participate in physical activities with appropriate boundaries. Discourage contact sports while encouraging non-weight-bearing activities, such as swimming. Your child’s doctor or physical therapist may also have recommendations.

*Find the best routine. Work with your child’s teachers and school administrators to make any necessary modifications in his or her schedule or responsibilities. These modifications may include giving your child extra time to move from class to class, providing him or her with an extra set of textbooks so that these books won’t need to be carried home, and making arrangements for assignments to be sent home when your child misses school because of his or her condition.

Prevention:-
If you have a personal or family history of Ehlers-Danlos syndrome and you’re thinking about starting a family, you may benefit from talking to a genetic counselor — a health care professional trained to assess the risk of inherited disorders. Genetic counseling can help you understand the inheritance pattern of the type of EDS that affects you and the risks it poses for your children.

In other animals:-  CLICK & SEE
Ehlers–Danlos-like syndromes have been shown to be hereditary in Himalayan cats, some domestic shorthair cats, and in certain breeds of cattle. It is seen as a sporadic condition in domestic dogs.

DSLD: Degenerative Suspensory Ligament Desmitis is a similar condition now being researched in all breeds of horses. Though it was originally notated in the Peruvian Paso and thought to be a condition of overwork and older age, the disease is being recognized in all age groups and all activity levels. It has even been noted in newborn foals. The latest research has led to the renaming of the disease after the possible systemic and hereditary components now being delineated by the University of Georgia. Equine Systemic Proteoglycan Accumulation

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:

http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome

http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706

http://www.bbc.co.uk/health/physical_health/conditions/ehlers1.shtml

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