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Ehlers-Danlos syndrome

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A: normal collagen fibrils that are uniform size and spacing. Fibrils from a patient with dermatosparaxis B: showing dramatic alterations in fibril morphology with severe effects on tensile strength of connective tissues. Fibrils from a patient with classical EDS C: showing composite fibrils (arrows). Fibrils from a TNX-deficient patient D: are uniform in size and no composite fibrils are seen. TNX-null E: fibrils are less densely packed and not as well aligned to neighboring fibrils.

Ehlers-Danlos syndrome is a disorder that causes extremely loose joints, hyperelastic skin that bruises, and damaged blood vessels. Also it affects connective tissues that are related to skin, bones, blood vessels, and organs. The main cause of this terrible disorder is drawback in the synthesis of collagen. The main symptom of this horrible disorder are hypermobility of joints. Many people with EDS have really fragile, stretchy, and soft skins. Also people with EDS can be injured from little bruises and little wounds. Some types of EDS are fatal such as vascular type of EDS. Vascular type of EDS affects human organs and ruptures blood vessel suddenly. This terrible disorder is mainly passed from one parent's gene to a child. [1]

Types of Ehlers-Danlos Syndrome

Classical type (Formerly types I & II)

There are three classic types of Ehlers-Danlos Syndrome; marked joint hyperhypermobility, skin hyperextensibility (laxity), and fragility. The smooth skin is really easy to get hurt. Also, bruises and other skin problems may be a big problem. Most patients suffer from joint dislocations and scoliosis. Also, the unstable joint can lead to strains and sprains. Evidently, these classic types of EDS (Ehlers-Danlos Syndrome) are passed from one parent to offspring.

Hypermobility type(formerly type III)

This type of EDS is also inherited from one parent to a child and has similar symptoms as classical types of EDS. In this type, the joint hypermobility is the main problem. Dislocation of joint often happens, and any joints can be affected from this type of EDS.

Vascular type(formerly type IV, the arterial form)

This type of EDS can lead to death by sudden rupture of the arteries and bowel. The most types of this EDS patients were born with clubfoot and patients can even see their veins through skins.

Kyphoscoliosis type(formerly type VI)

Most common symptoms of this type of EDS is fragile globe of the eyes, skin and joint laxity, and curvature of spine.

Arthrochalsia type(formerly type VIIB, arthrochalasis multiplex congenita)

Most of this type of EDS patients are short and affected by dislocation. Skin involvement is really fickle. This type of EDS can be treated with a skin biopsy.

Dermatosparaxis type(formerly type VIIC)

Similar as other types of EDS patients, Dermatosparaxis patients also have fragile skin that is really soft and doughy. Also, this type of EDS can be treated with skin a biopsy.

Tenascin-X deficient type

Most common symptoms of this type of EDS are fragile tissue, hyperelastic skin, and Joint hypermobility. One unique thing about this type of EDS is that Tenascin-X deficient type patients do not have atrophied scars in the skin that most of classic EDS patients have. [2]

Sign and Test of Ehlers-Danlos Syndrome

Thumb Hypermobility

When health care providers examine for signs of EDS, they look for

  • Deformed surface of the eye (cornea)
  • Excess joint laxity and joint hypermobility
  • Mitral valve prolapse
  • Periodontitis
  • Rupture of intestines, uterus, or eyeball (seen only in vascular EDS, which is rare)
  • Soft, thin, or very stretchy (hyperextensible) skin

Health care providers also examine for tests to identify and treat EDS. These tests include

  • Collagen typing (performed on a skin biopsy sample)
  • Collagen gene mutation testing
  • Echocardiogram (heart ultrasound)
  • Lysyl hydroxylase or oxidase activity[3]

Symptoms of Ehlers-Danlos Syndrome

skin Hyperelasticity

Symptoms of EDS are:

  • Very soft and velvety skin
  • Easily damaged, bruised, and stretchy skin
  • Double-jointedness
  • Easy scarring and poor wound healing
  • Flat feet
  • Joint pain
  • Joint dislocation
  • Premature rupture of membranes during pregnancy
  • Vision problems
  • Increased joint mobility, joints popping, early arthritis[3]
  • Gastroparesis
  • Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump),
  • Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility
  • Headaches caused by an acquired Arnold-Chiari malformation (brain disorder)
  • Arterial/intestinal/uterine fragility or rupture
  • Talipes equinovarus (club foot), especially in the Vascular type
  • Functional bowel disorders (functional gastritis, irritable bowel syndrome)
  • Vascular skin conditions: Raynaud's phenomenon, Livedo reticularis
  • Osteopenia (low bone density)
  • Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy
  • Dental issues, including early-onset periodontitis
  • Swan neck deformity of the fingers
  • Blue sclera
  • Insensitivity to local anesthetics
  • Premature rupture of membranes during pregnancy
  • Platelet aggregation failure (platelets do not clump together properly)
  • sitting, standing, and walking[4]

Treatment

Unfortunately, the medicine field have yet to discover a specific cure for EDS. The only thing that doctors can provide is physical therapy and medicine. In some types of EDS, the skin biopsy but this method is not enough to cure EDS perfectly.[3]

Complication

Most of Ehlers-Danlos Syndrome patients live their lives normally. However, these patients are not allowed to do physical activities such as soccer, basketball, baseball, and any other activities involving extensive motion. Depending on the type and symptom of EDS, the complications may vary.

Common complications are:

  • Difficulty with surgical wounds — stitches may tear out, or healing may be incomplete
  • Prominent scarring
  • Premature aging with sun exposure
  • Joint dislocation
  • Chronic joint pain
  • Early onset arthritis

In the vascular type of EDS, patients have some very dangerous complications because their blood vessels and organs are fragile. The major complications of vascular EDS are rupturing of major blood vessels such as arteries and aneurysms. Also, rupturing organs are considered the most dangerous complication of vascular EDS. These kinds of complications can lead to patient deaths and about 25% of people with vascular type of EDS see worsening health conditions by age 20. The average lifespan of vascular EDS patients is about 48 years. On the other hand, some EDS patients may progress the osteoporosis which is treated with medication to harden the bone density.

EDS and Pregnancy

Most female patients with EDS can have a normal pregnancy but there are some risks such as postpartum hemorrhage, poor wound healing after delivery, and premature delivery. Women with vascular types of EDS should avoid pregnancy because a pregnancy can lead to death because of the increasing blood volume and the more demanding work for the heart. [5]

Prevention

Most of Ehlers-Danlos Syndromes are inherited from parents. Therefore, the genetic counseling is highly recommended to prevent this horrible disorder.[3]

Video

Video of Ehlers-Danlos Syndrome

[6]

References

  1. Sanders, Lynn. Introduction of EDS. EDS Network C.A.R.E.S., Inc. Web. 31 Jan 2012.
  2. Shiel, William. Types of Ehlers-Danlos syndrome MedicineNet.com. Web. 31 Jan. 2012.
  3. 3.0 3.1 3.2 3.3 Ehlers-Danlos syndrome PubMed Health. Web. Last reviewed: November 7, 2010.
  4. Ehlers–Danlos syndrome Wikipedia. Web. 31 Jan 2012.
  5. complications of EDS MAYO Clinic. Web. 30 Jan 2012.
  6. Video of EDS Youtube.com. Web. 16 Dep. 2007.