***The information about Ehlers-Danlos Syndrome is particularly important to those with Chiari especially BEFORE SURGERY because EDS

can cause SERIOUS complications if not addressed before...it can cause cranial cervical instability and wound healing issues (i.e. CSF leaks)*** What is EDS? Individuals with EDS have a defect in their connective tissue, the tissue that 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. 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. What are the symptoms of EDS? Clinical manifestations of EDS are most often joint and skin related and may include: 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. Skin: soft velvet-like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas). 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. What are the types of EDS? There are six major types of EDS. The different types of EDS are classified according to the signs and symptoms that are manifested. Each type of EDS is a distinct disorder that "runs true" in a family. An individual with Vascular Type EDS will not have a child with Classical Type EDS. Learn more about the different types of EDS. How is EDS diagnosed? The categorization of the Ehlers-Danlos syndromes began in the late 1960's and was formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established and published in 1988 did not discriminate adequately between the different types of the Ehlers-Danlos syndrome or between the Ehlers-Danlos

syndrome and other phenotypically related conditions. Learn more about the EDS nosology and how EDS is diagnosed. How prevalent is EDS? At this time, research statistics of EDS show the prevalence as 1 in 5,000. It is known to affect both males and females of all racial and ethnic backgrounds. How is EDS inherited? The two known inheritance patterns for EDS include autosomal dominant and autosomal recessive. Specifics regarding genetic inheritance may be found by following the link below. Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children. Read more about hereditary patterns. What is the prognosis of someone with EDS? The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS due to the possibility of organ and vessel rupture. Life expectancy is usually not affected in the other types. What can I do now? The defining trait of those affected by EDS is the search for information. The rise in Internet usage in the last few years has delivered a significant benefit to families affected by EDS. EDNF members are sharing information on-line and learning from each other in ways that were impossible a decade ago. Learn more about the benefits of EDNF membership. *****Vascular Type EDS is considered the most serious form of EDS due to the possibility of arterial or organ rupture. If a patient presents with signs of chest, abdominal pain (etc.) it should be considered a TRAUMA SITUATION. Patient complaints should be immediately investigated using MRA, MRI, or CT-Scan testing not x-rays.***** URGENT INFORMATION on Vascular EDS Emergencies ARTERIAL RUPTURE IS THE MOST COMMON CAUSE OF SUDDEN DEATH. Arterial or intestinal rupture commonly presents as acute abdominal or flank pain that can be diffuse or localized. Spontaneous arterial rupture is most likely to occur in a persons twenties or thirties, but can occur at any point in life. Cerebral arterial rupture may present with altered mental status and be mistaken for drug overdose. Mid-size arteries are commonly involved. Arterial, intestinal, or uterine fragility or rupture usually arise in EDS Vascular type, but should be investigated for any EDS type. CAROTID-CAVERNOUS FISTULA: LIFE-THREATENING EMERGENCY Emergency consideration should be given to any Vascular EDS patient who becomes aware of redness, pain and prominence of one or both eyes and the sound of pulsations in their head: this can be a manifestation of a life-threatening carotid-

cavernous fistula. In this emergency condition, high pressure blood from the internal carotid artery can pass directly into veins behind the eye, which shunts blood inappropriately into the tissue around the eyes and into the eye itself, thereby causing the presenting symptoms. The greater risk is that the high pressure blood will leak out of the confines of the blood vessels and that could be life-threatening. It is absolutely critical to seek immediate hospital-based medical attention, and to inform emergency medical staff of the patients Vascular EDS and the risk of a carotid-cavernous fistula. Reference Materials Understanding Vascular Complications: A Primer of Essential Definitions (PDF) By James H. Black III, MD, FACS and George Arnaoutakis, MD, with illustrations by Jennifer E. Fairman, CMI, FAMI There is a silent animation by these authors that shows the types of aortic dissection and how they form. It is available in two formats; click on your choice of format, and the animation will either begin to play or you will be offered a choice to save it to your drive. In Windows Media Video .wmv format (5 MB) here; in Quicktime Movie .mov format (14 MB) here. See also EDNFs Clinical Reference Manual: Vascular Type (a full-color, 20-page PDF) with detailed information on diagnosis, treatment, surgery/emergency medicince, and an extensive glossary. There is also a quick reference pamphlet on Vascular Type EDS in our series of Medical Resource Guides.