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Mary Chipamn

Ehlers Danlos Syndrome

+Genetic Disorders

Genetic disorders can be caused by abnormalities in genes or chromosomes. In some cases the disorder is passed down from the parents, but it can also be caused by mutations in DNA. If a genetic disorder is hereditary it means that there is a mutated gene being passed down through the family. The mutation is carried in the parents reproduction cell. When the offspring is being produced the mutation will go into every cell in their body.

+Ehlers Danlos Syndrome

It was first discovered in 400 BC by Hipprocrates. It gets its name from two European dermatologists, Edvard Ehlers and Henri-Alexandre Danlos. It is known to be one of the earliest causes for bruising and bleeding.

History

+Ehlers Danlos Syndrome (EDS)

Hypermobility: 1 in 10,00-15,000

Classical: 1 in 20,000-50,000

Vascular: 1 in 100,000-250,000

Kyphoscoliosis: 60 cases reported

Arthrochalisis: 30 cases reported

Dermatosparaxis: 10 cases reported

Ehlers Danlos Syndrome is a heterogeneous group of connective tissue disorders. It is caused by defect in the Collagen. The Collagen is part of the connective tissues that makes sure that the tissues do not deform. Some forms of EDS are very dangerous and can lead to sudden death due to rupturing vessels and organs. Although most forms of EDS do not include a short life span. Every type of EDS has the same symptoms, but in some types certain symptoms are more prominent.

+Hypermobility

Lose joints, joint dislocation, chronic joint pain and double-jointedness are most prominent in this type. Stretchy skin can be found, but it isn’t as severe as in other types.

It is caused by mutations genes

+Classical

In this type the skin is highly affected. Elastic –like skin, easy bruising and scarring are commonly found.

Caused mainly from defective Collagen

+Vascular

This is considered to be the most dangerous form of EDS. Organs and vessels are very weak so they are very likely to rupture.

Big eyes, thin nose and lips, translucent skin, small chin, sunken cheeks.

80% of people with this type will experience very serious health issues by the age of 40.

+Kyposcoliosis

Caused by a deficiency of a certain enzyme

Very weak muscles, eyes and spine

+Arthrochalisis

Very lose joints, especially in the hips

Dislocation of joints often

+Dermatosparaxis

Extremely saggy skin

Easily bruised and scared

+Symptoms

Some symptoms of EDS are:

Difficulty in healing wounds

Easy scarring and bruising

Elastic-like skin

Double-jointedness

Extremely lose joints

Flat feet

Joint pain and dislocation

+Treatment

In most cases there isn’t much that can be done. EDS can not be cured. Physical therapy is often the only way of making it better. Puberty is usually when it is at its worse. Throughout time it can get better just on its own. Some connective surgeries can be done to decrease pain. There are very few symptoms of EDS that can be improved.

Joint strengthening can be done by working out with weights. Once joints are strengthened it will decrease the likelihood of joint dislocation. For flat footedness it is recommended to wear arches in all pairs of shoes. It is also encouraged that the joints that are double-jointed should not ever be stretched.

Treatments Improvement

+Complications

Since there really is no treatment for EDS, there are no side effects to treatment. How ever, there are many

complications that can happen by having it.

Some complications include:

Rupture in organs and major vessels

Rupture of the eyeball

Rupture of membranes in pregnancy

Arthritis

Joint pain

+Gene Therapy

Gene therapy is an experimental technique used to try and correct or prevent genetic disorders.

Gene therapy can be done in three ways. It can replace a mutated gene already present, inactivate a mutated gene or bring a whole new gene in.

Gene Therapy can be used and is actually recommended for EDS.

For carriers of EDS, if thinking about getting pregnant, genetic counseling is also recommended.

Gene Therapy Gene Therapy in EDS

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Bibliography

Pictures:http://uechi.typepad.com/konayogacom/2007/06/double_jointed.htmlhttp://www.mayoclinic.com/images/image_popup/r7_edselasticskin.jpghttp://www.edmontonfootdoc.com/wp-content/uploads/2012/04/Flatfoot.jpg

Information:http://www.medicine.wisc.edu/~williams/eds_review_2008.pdfhttp://ghr.nlm.nih.gov/handbook/therapy/genetherapyhttp://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002439/http://learn.genetics.utah.edu/content/disorders/whataregd/