Ehlers-Danlos Syndrome -- Full-Length Expert's Interview

Ivanhoe Broadcast News Interview Transcript with
Jill Douglas-Hand, R.N., founder of the Canadian Ehlers-Danlos Association
Linda Neumann-Potash, RN, executive director of Ehlers-Danlos National Foundation
Topic: Ehlers-Danlos Syndrome

What is Ehlers-Danlos syndrome?

Douglas-Hand: Ehlers-Danlos syndrome (EDS) is a group of hereditary disorders that affect mainly the skin and joints, but other organs as well. It is believed that people with EDS have a defect in their connective tissue. Connective tissue provides support to many parts of the body such as the skin, muscles, tendons and ligaments. The cause of fragile skin and unstable joints in some types of EDS is faulty collagen, the protein "glue" that makes connective tissue strong and elastic.

Neumann-Potash: The classification of the types of EDS began in the late 1960s and was formalized in 1986 at a meeting in Berlin and published in 1988. At the time, ten types of EDS were identified. In 1997, the nosology was once again redefined due to advances in both the molecular, biochemical and clinical understanding of EDS. The revised nosology is based on the primary cause of each type with major and minor criteria defined for each type. At this time, the prevalence of EDS is thought to be 1 in 5,000 to 10,000 individuals. It is known to affect males and females of all racial and ethnic backgrounds.

Describe the different types.

Douglas-Hand: There are six different types of EDS commonly known today. In 1997, a new nosology was determined among specialists in the field worldwide, and this new documentation of EDS helps better define the types and may assist in the diagnosis of EDS.

Neumann-Potash: The symptoms in the different types are related to the type of collagen that is affected. Each type of EDS is a distinct disorder that runs true in a family. This means that an individual with the Vascular Type of EDS will not have a child with the Classical Type. The six major types of EDS are the Classical Type, Hypermobility Type, Vascular Type, Kyphoscoliosis Type, Arthrochalasia Type and the Dermatosparaxis Type. Common skin features include skin that is soft velvet-like, skin extensibility, skin fragility, easy bruising, scarring, slow and poor wound healing and molluscoid tumors. Common joint features include joint hypermobility, frequent joint dislocations, chronic pain, hyperextensible joints, and early onset of osteoarthritis.

Douglas-Hand: Marked, stretchy skin with widened atrophic scars and joint hypermobility are found in the Classical Type of EDS. The skin manifestations range in severity from mild to severe expression. The skin is smooth and velvety with the evidence of tissue fragility and easy bruising. Examples of tissue extensibility and fragility include hiatal hernia, anal prolapse in childhood and cervical insufficiency. Hernias may be a post-operative complication. Also evident are fleshy lesions associated with scars frequently found over pressure points, like elbows and small spherical bodies which are commonly mobile and palpable on the forearms and shins. Complications of joint hypermobility include sprains, dislocations and flatfoot, to name a few. Muscle hypotonia and delayed gross motor development may also be evident.

Hyperextensible and/or smooth, velvety skin, as well as bruising tendencies are found in Hypermobile Type of EDS. Joint hypermobility is the dominant clinical manifestation. Generalized joint hypermobility that affects large joints (elbows and knees) and small joints (fingers and toes) is evident in Hypermobile Type EDS. Recurring joint dislocations are common occurrences. Certain joints, such as the shoulder, patella, and temporo-mandibular joint dislocate frequently. Chronic joint and limb pain is a common complaint amongst individuals with Hypermobile Type EDS and may be severe. Skeletal X-rays are normal. Musculoskeletal pain is described as early onset, chronic and may be debilitating.

Thin translucent skin reveals the subcutaneous venous pattern and is particularly apparent over the chest and abdomen. Facial appearance is characteristic in some affected individuals. A decrease in subcutaneous tissue, particularly in the face and extremities, is evident. Minor trauma can lead to extensive bruising. Arterial/intestinal/uterine fragility or rupture commonly arise in the Vascular Type of EDS. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life, but may occur earlier. Midsize arteries are commonly involved. Arterial rupture is the most common cause of sudden death. Acute diffuse or localized abdominal or flank pain is a common presentation of arterial or intestinal rupture. Life expectancy is shortened with a majority of individuals living only into their 40s. Pregnancies may be complicated by intra-partum uterine rupture and pre- and postpartum arterial bleeding. Joint hypermobility is usually limited to the digits. Tendon and muscle rupture can occur. Clubfoot is frequently seen at birth. Other manifestations that may be found in Vascular Type EDS include: premature aging of the skin of the hands and feet; early onset varicose veins; and collapse of a lung.

Generalized joint laxity and severe muscle hypotonia at birth are seen in Kyphoscoliosis Type of EDS. Muscular hypotonia can be very pronounced and can lead to delayed gross motor development. Individuals with EDS present with scoliosis at birth that is progressive. The phenotype is most often severe, frequently resulting in the loss of ambulation in the second or third decade. Tissue fragility, including atrophic scars and easy bruising, may be seen in the Kyphoscoliosis Type of EDS. Spontaneous arterial rupture can easily occur. Other findings may include: marfanoid habitus; abnormally small cornea, and loss of bone tissue.

Congenital hip dislocation has been present in all biochemically proven individuals with Arthrochalasia Type EDS. Severe generalized joint hypermobility with recurrent subluxations are seen in individuals with Arthrochalasia Type EDS. Other manifestations of this type of EDS may include: skin hyperextensibility with easy bruising, tissue fragility including atrophic scars; muscle hypotonia; kyphoscoliosis and radiologically mild osteopenia.

Individuals with Dermatosparaxis Type EDS have severe skin fragility and substantial bruising. Wound healing is not impaired and the scars are not atrophic. The skin texture is soft and doughy. Sagging, redundant skin is evident. The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias (umbilical, inguinal) may also be seen. The number of patients reported with this type of EDS is small.

Who can get it and what causes it?

Douglas-Hand: EDS is a relatively rare disorder, occurring in fewer than 1 in 10,000 people. It occurs in both children and adults and all ethnic groups. It is my personal belief that these statistics are a poor reflection of the actual numbers of people living with EDS in the world, as these numbers are the result of physicians who successfully diagnosed EDS in their patient population. Where a physician may be uncertain of the clinical presentation of a patient with a variety of symptoms indigenous to EDS, a diagnosis may not be made. There are two different inheritance patterns of EDS. They are known as autosomal dominant and autosomal recessive. It is important to remember that regardless of the pattern of inheritance, we have no control over which genes we pass on to our children.

Neumann-Potash: EDS is not a contagious disease that you can catch from another person or the environment. EDS is a genetic disorder that is passed on through the genes we get from our parents. I highly recommend that each person suspected of having EDS see a genetic counselor to go over your family history and to explain in detail the inheritance patterns in EDS.

How many patients do you see with EDS?

Douglas-Hand: I have personally met just over 200 people with EDS, and more than that where EDS is a suspected diagnosis.

Neumann-Potash: I speak with more than 100 people a month who either have EDS, have a family member with EDS, or suspect that they may. The Ehlers-Danlos National Foundation has over 1,400 members.

Why do few people know about it?

Douglas-Hand: EDS is a poorly understood disorder because it is a syndrome. A syndrome by it’s very definition is a group of signs and symptoms that occur together and characterize a particular abnormality. How the signs and symptoms present can vary, and the diagnosis is dependant upon the practiced eye of the practitioner. These pieces of a puzzle may not fit together in a way that appears obvious and this can invite misdiagnosis. Often people with EDS do not obtain their diagnosis until much later in life, after enduring misdiagnoses and inappropriate or unsuccessful treatment.

Neumann-Potash: EDS is considered a rare disorder. There are over 4,000 different known rare disorders and the amount of material, if any, taught in medical school on such disorders is minimal. This is a common problem that is not limited to EDS. Over the past five years, the Ehlers-Danlos National Foundation in conjunction with the International Ehlers-Danlos Syndrome Network has been working on educating both health care professionals and the general public on EDS. Although we’ve made progress, especially in the area of genetics, rheumatology and orthopedics, we still have a long way to go. The EDNF is working with the Canadian Ehlers-Danlos Association, EDS Today, the Ehlers-Danlos Foundation of New Zealand, and the Hypermobility and Fibromyalgia List on the EDS Awareness Campaign. The purpose of the awareness program is to educate health care professionals, teachers, and the general public on EDS through increased media exposure and the promotion of EDS Web sites and related Web sites.

What are some of the biggest mistakes doctors make when diagnosing or dealing with EDS?

Neumann-Potash: The diagnosis of EDS is usually based on clinical findings and family history. Since many patients do not fit neatly into one of the specific types of EDS, a diagnosis is often delayed or overlooked. Specific diagnostic tests are available for some types of EDS in which the biochemical defect is known. Sometimes a physician may perform a skin biopsy to study the chemical makeup of the connective tissue. Even with the new diagnostic criteria, for many people with EDS, obtaining a diagnosis may be a long frustrating process. There are times when health care professionals misdiagnose a child who has EDS, primarily the classical type of EDS, as the child being abused. A person with the classical type of EDS has very fragile skin which tears easily so there may be repeated trips to the emergency room because of large gapping wounds or severe bruising. The injury itself is frightening enough for a child and their family but then add the stress of parents being questioned about abusing their child. There have been cases of children being removed from the home due to a misdiagnosis of child abuse. Many patients with EDS are not diagnosed until adulthood even though they may have had significant symptoms since childhood.

What are the current treatments for the symptoms of EDS?

Douglas-Hand: The gaping skin wounds, which are common in several types of EDS, should be approached with care. Proper repair of these wounds is necessary to prevent cosmetic disfigurement. Surgical procedures can be risky, as fragile tissues can unexpectedly tear. Suturing may present problems for the same reason. A physician may prescribe bracing to stabilize joints. Surgical repair of joints may be necessary at some time but soft tissue repairs are often unsuccessful, as the repairs tend to loosen again and allow for further dislocations. Physicians may also consult a physical and/or occupational therapist to help strengthen muscles and to teach people how to properly use and preserve their joints. One should avoid activities that cause the joint to lock or overextend.

To decrease bruising and improve wound healing, some patients have responded to vitamin C by taking one to four grams daily. Before starting a regimen such as this, it is imperative to consult with your physician for specific recommendations.

In general, medical intervention is limited to symptomatic therapy. For those who live with vascular type EDS, education is critical to learning how to avoid some stresses on the body. Avoidance of contact sports and other physically stressful activities should be considered and regular medical tests to assess cardiac status are important in maintaining a stable health environment when possible. Unfortunately, the diagnosis of vascular type EDS is often made after a catastrophic vascular event or upon autopsy.

Children with EDS should be provided with information about the disorder, so they can understand why contact sports and other physically stressful activities should be avoided. Children should be taught early on that demonstrating the unusual positions they can maintain due to loose joints should not be done as this may cause early degeneration of the joints. Family members, teachers and friends should be provided with information about EDS so they can accept and assist the child as necessary.

Neumann-Potash: Patients with the vascular type of EDS require frequent monitoring. Testing, whenever possible, needs to be noninvasive. When a patient with the vascular type of EDS has abdominal pain, one needs to rule out a bowel rupture or aneurysm first. In a person with the vascular type of EDS, abdominal pain that is new can be a life-threatening emergency.

Is there any new research in the area?

Douglas-Hand: Currently, there are no studies specifically occurring in EDS, but a study will be resuming at the National Institute of Health that is recruiting EDS patients to participate in a Mind/Body study. Dr. Peter Byers in Seattle has been involved with ongoing work in the diagnosis of subtypes of vascular type EDS, and his work has helped identify many families and individuals with vascular type EDS. His work is important as his laboratory is the only large facility which accepts samples for culture in the US and Canada.

As a nurse, what are the biggest fears/concerns do you see in patients?

Douglas-Hand: My biggest concern for patients who have EDS is that they are not getting the care they require and their symptoms are becoming too great to manage effectively. I am concerned that their issues are not being understood, nor believed. My biggest fear for all with EDS is that we fall prey to a medical community, which fears that which they do not understand and continue to alienate people with EDS rather than work to understand.

Neumann-Potash: As a nurse and the executive director of Ehlers-Danlos National Foundation, my biggest fear is that one more person will die from this disorder prematurely. It’s a helpless feeling when someone passes away. A feeling of, I wish I could have done more, and that I wish I could somehow prevent another person from dying. It makes me work even harder. Another concern is watching some people really struggle with learning how to live with EDS. A number of people do successfully learn to live with EDS meaning that they come to terms with the disorder and realize that having EDS is only one component to who they are. For others, the struggle is much deeper, where EDS consumes them. Where their whole identity is shaped around having EDS. This is the group of people that concerns me most. For some, in time they move into acceptance and for others they never do. The third area has to do with misdiagnosis. Falsely being accused of child abuse is only one of the important issues that fall under this area. It is not uncommon to hear horror stories from adults who have been bounced from one doctor to another being told that there is nothing wrong, that is all in their head or worse, they are accused of having Munchausen or in the case of a parent of a child - Munchausen by proxy. Of parents being told that their child is dislocating their joints just for attentions or the same for an adult. Another common misconception is when a health care professional says, "Well, how can you be in so much pain when you look normal?"

Is depression an issue with these patients?

Douglas-Hand: Depression is a significant issue for most people with chronic disorders and there are many reasons for this. Many people who live with EDS find themselves in the hands of physicians and other practitioners who do not understand EDS and are therefore not able to meet the needs of their patient. This often leads to anxiety for the patient and frustration for the treating physician as both feel inadequate. It is not at all uncommon for people living with EDS to seek out their own information about EDS from as many sources as possible and present this information to their physicians. This is often necessary as information is difficult to find, or the physician simply has no time or desire to pursue information so difficult to find. It is important to realize here as well, that physicians often do not see a case of EDS in their practice and if they do they may easily overlook it or misdiagnose it. Often people with EDS will seek out practitioners who have treated EDS in the past to avail themselves to a practitioner who is somewhat familiar with the disorder. This can lead to large out-of-pocket expenses in travel, or the knowledge that the patient is pursuing care with a physician that their insurance policy considers out of network.

Many people with EDS feel abandoned by their family and friends because their EDS is poorly understood. Often, a person with EDS may look entirely well and healthy by outward appearance, and this is deceiving to those who do not understand the disorder well. Recently in the media, there have been instances where EDS has been portrayed in a rather extraordinary way and brought to the forefront.

What is your advice to patients who think they may have EDS?

Douglas-Hand: Get thee to a geneticist! A geneticist is the best person to see to make the diagnosis of EDS and to test for the types of EDS that have tests available for diagnosis. A geneticist can also help establish the thread of EDS in a family and can offer useful advice in terms of who to consult for ongoing treatment and observation. Beyond a geneticist, a rheumatologist is a helpful person to manage the care of someone with EDS as they are familiar with various conditions characterized by inflammation or pain in muscles, joints or fibrous tissue.

What is your personal outlook on EDS education, research, and treatment?

Douglas-Hand: I am very enthusiastic that with greater dialogue among the medical community and with the understanding of the public, people with EDS will experience a change in atmosphere. Education is so important in helping someone with EDS make choices in their lives which will help them obtain and remain independent and feeling secure. I hope that over time the genetic defect that is present to create all types of EDS can be located and work to alter this ensues. I hope that effective treatments which will help manage the more devastating symptoms of EDS will be located through meaningful research and made available to all.

Neumann-Potash: All three areas are extremely important and, although we’ve made strides in all three areas, we still have so much more to do. The first step is increasing awareness about EDS. If you are reading this and suspect that you may have EDS or know someone who does, please contact us. Being diagnosed with a chronic illness can be scary and we want you to know that you are not alone anymore. The motto of the Ehlers-Danlos National Foundation is "Together We Will Find A Brighter Day," and we will, with your help.

END OF INTERVIEW

This information is intended for additional research purposes only. It is not to be used as a prescription or advice from Ivanhoe Broadcast News, Inc. or any medical professional interviewed. Ivanhoe Broadcast News, Inc. assumes no responsibility for the depth or accuracy of physician statements. Procedures or medicines apply to different people and medical factors; always consult your physician on medical matters.

If you would like more information, please contact:

Ehlers-Danlos National Foundation
6399 Wilshire Blvd. Suite 203
Los Angeles CA 90048
(323) 651-3038
EDNFBoard@aol.com
http://www.ednf.org/