Loose Connections Vol. XIII, Number 1 The Official Communications Link Of The Ehlers–Danlos National Foundation 6399 Wilshire Blvd. Suite 510 Los Angeles, California 90048
February, 1998 (213) 651–3038
The Revised Ehlers–Danlos Syndrome Nosology Compiled By Darlene A. Clarke, R.N., M.S.N., Karen Skrocki Czerpak, R.N. & Linda Neumann–Potash, R.N., M.N. Editors Note: As many of you are aware, the EDS Nosology paper is still “in press” with the American Journal of Medical Genetics and has not been published to date. Therefore, the EDNF has not been able to provide complete information on the revised Nosology. In an attempt to update our members as much as possible at this time, the Editors of Loose Connections decided to print the Foundation’s two new EDS brochures as the lead article for this issue. The following brochures were revised in January of 1998 to reflect the revised Nosolgy. Please know that as soon as the EDS New Nosology article is published, the Foundation will request permission from the publisher to reprint the article for our members.
In This Issue... The Revised Ehlers–Danlos Syndrome Nosology ........................... 1 Notes From Nancy .............................. 2 EDNF’S Comic Connection with Harvey Korman .......................... 2 The Chair’s Connection ...................... 3 The Executive Element ....................... 4 Branch News ................................ 5 & 6 Wish List ............................................. 7 A Very Special Thank You .................. 7 Manuscript Guidelines ....................... 7 Eighth National Learning Conference ........................ 10 EDS In NIH Research Project .......... 10 Letters To The Editor ........................ 11 Memorials and Honorariums ............ 12 Donations .......................................... 12 Non-Bowl, Bowl–A–Thon ............... 13 Back Issues ....................................... 14 Membership Form ............................ 15
The Facts About Ehlers–Danlos Syndrome Ehlers–Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms. Each type of EDS is a distinct disorder that “runs true” in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS. Individuals with EDS have a defect in their connective tissue, the tissue which provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein which acts as a “glue” in the body, adding strength and elasticity to connective tissue.
Symptoms Clinical manifestations of EDS are most often skin and joint related and may include: Skin: soft velvet–like skin; variable skin hyperextensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid
pseudotumors (fleshy lesions associated with scars over pressure areas). Joints: joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint’s normal range); early onset of osteoarthritis. Miscellaneous/Less Common: chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); Scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse; and gum disease.
Prevalence At this time, research statistics of EDS show the prevalence as 1 in 5,000 to 1 in 10,000. It is known to affect both males and females of all racial and ethnic backgrounds.
Hereditary Patterns The two known inheritance patterns for EDS include autosomal dominant and autosomal recessive. Specifics regarding genetic inheritance may be found in another EDNF informational brochure. Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children. Continued Continued on on page page8.8
Views expressed herein are only those of the authors, and should not be construed to represent the opinions or policies of the Ehlers–Danlos National Foundation and it’s elected officials.