Free Essay

Bio301 Ehlers Danlos Syndrome Brochure

In:

Submitted By wambamtym
Words 652
Pages 3
Ehlers-Danlos syndrome
(Stretchy Skin Disease)
Ehlers-Danlos Syndrome, also known as Stretchy Skin Disease is a connective tissue disorder that is inherited. There are several types of Ehlers-Danlos syndrome ranging from mild to life threatening (Ehlers-Danlos syndrome, 2006).
According to NCBI, this disease is characterized by hyperextensibility of the skin, joint hypermobility, weakness of tissue, and rupture in arteries. People with this disease have a deficiency in collagen causing the skin, muscles and joints to not hold firm.
Signs & Symptoms * Double-Jointedness, joint popping, joint dislocation, congenital hip dislocation * Easily damaged, bruised or stretchy skin, poor wound healing * Chronic joint pain * Very soft and velvety skin, very stretchy skin, fragile * Vision problems, deformed surface of the eye, crossed eyes * Weak internal organs

Most Ehlers-Danlos syndrome types affect the joint tissue and skin; a couple other types affect the same, including fragile blood vessels that affecting the internal organs.
Complications
* Premature rupture of membranes, rupture of intestines, uterus or eyeballs * Periodontitis * Mitral valve prolapse * Failure of surgical wounds properly healing * Early-onset arthritis
Treatment/Maintenance
Currently there is no cure for Ehlers-Danlos syndrome, only management. It is important that each person establish a network of clinical physicians who are very familiar with the disease and know how to properly handle their case to avoid misdiagnosis.
Physical therapy is extremely important in order to strengthen loose joints and muscles. Conditioning should be a daily routine. Wearing braces around certain joints can also help to stabilize loose and painful joints. Surgery to repair or tighten connective tissue is not usually recommended since the skin does not often heal properly (Ehlers-Danlos Syndrome, 2010).
Because there is chronic pain due to unstable joints and internal complications, pain medicine is often needed. When over the counter pain relievers don’t suffice, doctors prescribe stronger medications such as narcotics (Ehlers-Danlos Syndrome, 2012).
Because there is a high risk of sudden death, due to ruptured organs, maintaining a low blood pressure it vital. Blood pressure should be checked daily. Pregnancy increases this risk (Malfait, 2012).
Diagnosis
Diagnosing Ehlers-Danlos syndrome can be clinically done by studying family history followed with clinical examinations.
Depending on the knowledge of the clinic, molecular genetic testing can be done to detect the mutation in COL5A1 or COL5A2 (Malfait, 2012).
Heart ultrasounds, electron microscopy of a skin biopsy and biochemical testing on cultured dermal fibroblasts are also available for diagnosing (Malfait, 2012).
Current Research
Currently there are few organizations that help raise money for the study of Ehlers- Danlos syndrome.
The Ehlers-Danlos National Foundation has conducted studies of women with the disease to record menstrual disorders, reproductive problems, infertility, and miscarriage. According to Mescape, recent studies shoe a possible risk for thoracic aortic enlargement.
Summary
Ehlers-Danlos syndrome is a rare disease that should be properly diagnose and treated as soon as possible to avoid complications. This disease has a wide spread of symptoms externally and internally. Depending on the type of Ehlers-Danlos syndrome, symptoms can be mild to fatal. It is important to safeguard by doing preventative actions such as daily conditioning, wearing braces and maintain a healthy blood pressure. Currently there is no treatment for this disease so sufferers should maintain a professional relationship with a clinical specialist.

References:
Ehlers-Danlos syndrome. 2012. Mayo Clinic. Retrieved 11-2-2012. http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706/DSECTION=complications. Ehlers-Danlos syndrome. 2010. PubMed Health. Retrieved 10-19-2012. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002439/.
Ehlers-Danlos syndrome. 2006. Genetics Home Reference. Retrieved 10-30-2012. http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome.
Ehlers-Danlos syndrome. 2012. MedlinePlus. Retrieved 10-30-2012. http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm.
Malfait, F., Wenstrup, R., De Paepe, A. Ehlers-Danlos Syndrome, Classic Type. 2011. NCBI. Retrieved 10-28-2012. http://www.ncbi.nlm.nih.gov/books/NBK1244/.

Similar Documents