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Saturday, April 28, 2012

Ehler's-Danlos Syndrome Awareness Month

Who knew it?  We are coming up to National Ehler’s-Danlos Awareness Month in May!

The logo is representative of the phrase, " When you hear hoofbeats, think zebras, not horses."  Ehler's-Danlos is considered to be a zebra.

In a nation in which we are learning to be inclusive of all, I should not have been surprised that May was designated National Ehler's-Danlos Awareness Month.  I will do my part to share information about the disorder I inherited....and, regrettably, passed on.  
About the Types of Ehlers-Danlos Syndrome:
The types of Ehlers-Danlos syndrome may appear clear and defined, but symptomatology rarely permits easy classification. Although most of the genes responsible are identified, not all of the mutations that cause EDS have been found yet.
HYPERMOBILITY [distinctive cause unidentified]: Most common, 1 in 10,000 to 15,000. Generalized joint hypermobility, skin involvement (possible hyperextensibility or smooth/soft skin), chronic joint pain, recurrent joint dislocations.
CLASSICAL [COL5A1, COL5A2, COL1A1]: Two to 5 in 100,000. Variable skin hyperextensibility, widened atrophic scars (tissue fragility), joint hypermobility, easy bruising; ± mulluscoid pseudotumors, subcutaneous spheroids; occasional internal organ fragility.
VASCULAR [COL3A1]: Rare at one in 100,000 to 250,000. Thin, translucent skin, arterial/ intestinal/uterine fragility or rupture, extensive bruising, characteristic facial appearance; ± acrogeria, hypermobility of small joints, early onset varicose veins, and pneumothorax.
KYPHOSCOLIOTIC [PLOD1]: Very rare. Generalized joint laxity, severe muscle hypotonia at birth, scoliosis at birth (progressive), scleral fragility and rupture of the ocular globe; ± tissue fragility, easy bruising, arterial rupture and osteopenia.
ARTHROCHALASIA [COL1A1 & COL1A2]: Very rare. Severe generalized joint hypermobility with recurrent subluxations, congenital bilateral hip dislocation; ± skin hyperextensibility, tissue fragility (atrophic scars), easy bruising, muscle hypotonia and osteopenia.
DERMATOSPARAXIS [ADAMTS2]: Extremely rare. Severe skin fragility, sagging redundant skin; ± soft doughy skin texture, easy bruising, premature rupture of fetal membranes, and large hernias (umbilical and inguinal).
OTHER reported types await definition or have been reported only in single families. 

(reprinted from EDNF.org)

Medical Zebras

Public Service Announcement: 

When you hear hoofbeats, think zebras, not horses.

LOS ANGELES - In response to the national need for lifesaving diagnosis, May will be designated Ehlers-Danlos syndrome Awareness Month. To coincide with this campaign, four Public Service Announcements (PSA) have been released by the Ehlers-Danlos National Foundation to increase public awareness about the symptoms of Ehlers-Danlos syndrome (EDS). EDS is a connective tissue disorder which can manifest in debilitating, sometimes fatal symptoms. The overall prevalence of EDS is estimated at 1 in 5,000 births. EDS is critically under diagnosed, with approximately ninety percent of affected individuals remaining undiagnosed until a medical emergency arises. EDS related emergencies range from life-threatening rupture of artery, bowel or other internal organs to spontaneous joint dislocation, as well as fragile skin that wounds easily, requiring stitches. Most physicians are ill-prepared to recognize the symptoms of EDS prior to an emergency, and patients are forced to travel from specialist to specialist, sometimes for years, seeking a diagnosis to explain their myriad symptoms. Increased awareness will enable physicians to make an early, accurate diagnosis and provide proactive patient care. It will provide EDS patients a sense of validation and a better quality of life. 

Radio spots are going to be playing.  They may be heard at the following links:

Books on the topic:
Issues and Management of Joint Hypermobility: A Guide for the Ehlers-Danlos Syndrome Hypermobility Type and the Hypermobility SyndromeJoint Hypermobility Handbook- A Guide for the Issues & Management of Ehlers-Danlos Syndrome Hypermobility Type and the Hypermobility Syndrome [Paperback]
Brad T Tinkle (Author)
A Guide to Living with Hypermobility Syndrome: Bending Without Breaking [Paperback]
Isobel Knight (Author), Alan J. Hakim (Foreword)
Hypermobility Syndrome: Diagnosis and Management for Physiotherapists, 1e [Paperback]
Rosemary J. Keer MSc MCSP MACP (Author), Rodney Grahame CBE MD FRCP FACP (Author)

For additional information, contact www.EDNF.org or talk with a medical professional with training in the field.
I welcome questions and comments and will respond if you include an email address.  Take care of your joints!

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