As I sat here today, pondering exactly what I would write about, I realized the importance of communicating with all of you who are reading my posts, exactly what goes in to the typing of EDS once a diagnosis is received. However, I feel that it is also important (as an advocate of my fellow zebras) to inform you of all of the possible co-morbidities that these friends of mine are afflicted with daily. At the very beginning of our correspondence, I wrote of POTS and my struggles with it. But I want it to be clear, that although it is difficult, my “suffering” pales in comparison with so many!
But first, let us discuss the types of EDS. Bear with me, as I am going to be throwing a lot of information your way. Also keep in mind that it is more than possible for an EDS patient to be “typed” with more than one form of EDS.
*For anyone who might be curious, I am getting all of this information from the Ehlers-Danlos Syndrome Network: ehlersdanlosnetwork.org
Classical Type (Previously I and II): “The Classical Type of EDS is characterized by highly elastic, soft, and doughy skin; unusual scarring; and loose joints. This type of Ehlers-Danlos Syndrome combines the types formerly called I and II. Ehlers-Danlos Syndrome, Classical Type is a subtype of Ehlers-Danlos Syndrome.”
– “People with the Classical Type have smooth, velvety skin that is stretchy, fragile, and easily bruised. Wounds often split open with little bleeding, heal slowly, and leave characteristic thin, wide scars (“cigarette paper” scars). People with this condition also have loose joints with an unusually large range of movement (hypermobility). As a result, joints are prone to dislocation, sprains, and the early-onset arthritis. Non-cancerous fibrous growths on pressure points (such as elbows) and fatty growths on the forearms and shins are also common. Other manifestations include weak muscle tone in infants due to hypermobility, which can make them seem “floppy” and delay the development of motor skills such as sitting, standing, and walking. As many as half of the people with Classical Type Ehlers-Danlos Syndrome have a condition called mitral valve prolapse, which affects blood flow between the chambers of the heart.”
– This is the most common form of EDS and is typically inherited.
Hypermobility Type (Previously Type III): I don’t feel as though I need to expand on this type too much, as I have provided the most information on this, using my own story, but I will give you the explanation as described by the Ehlers-Danlos Syndrome Network: “The Hypermobility Type of EDS is characterized by loose joints and chronic joint pain. This form of Ehlers-Danlos Syndrome was formerly called type III. Ehlers-Danlos Syndrome, Hypermobility Type is a subtype of Ehlers-Danlos Syndrome.”
– You will remember that one of the key indicators of this type, is hyper mobile joints, but it is not necessarily the first symptom to rear its ugly head.
Vascular Type (Previously Type IV): “The Vascular Type of EDS is characterized by possible arterial or organ rupture as a result of spontaneous rupture of vessels or organs due to the result of even minor trauma. The Vascular Type of EDS is the most serious form of Ehlers-Danlos Syndrome.”
– “People with the disorder have thin, fragile skin that bruises easily. Veins are visible beneath the skin, particularly on the chest and abdomen, and hands and feet may have an aged appearance. Unlike people with other forms of Ehlers-Danlos Syndrome, people with the Vascular Type have skin that is soft but not overly stretchy. Facial features are often distinctive, including protruding eyes, a thin nose and lips, sunken cheeks, and a small chin.”
– …”tearing of tendons and muscles, painfully swollen veins in the legs, lung collapse, and slow wound healing following injury or surgery. Infants with the condition may be born with hip dislocations and a foot disorder called clubfoot, which causes the foot to turn inward and downward.”
– Spontaneous rupture of internal organs is a very real possibility for people with Vascular type Ehlers-Danlos Syndrome.
– This is a very tough form to diagnose, but is the most dangerous of all of the types of EDS.
– As you read, you may notice that there are symptoms and criteria that span over several types of EDS.
– Hypermobility of joints IS a symptom that coincides with the Vascular type of EDS.
Okay… are you getting bored yet? Stick with me. There are a few more types to go through. I understand that it is a lot of information to take in all at once, but it is very important to me to share the plight of my friends!
Kyphoscoliosis Type: “The Kyphoscoliosis Type of EDS is characterized by generalized joint laxity and severe muscle hypotonia (weak muscle tone) at birth. The muscular hypotonia can be very pronounced and leads to delayed gross motor development. Individuals with the Kyphoscoliosis Type of EDS present with a progressive form of scoliosis at birth. The phenotype is most often severe, frequently resulting in the loss of ambulation in the second or third decade. Scleral fragility may lead to rupture of the ocular globe after minor trauma.”
– “Tissue fragility including atrophic scars and easy bruising. Spontaneous arterial rupture can occur.
Other Findings May Include
- Marfanoid Habitus (Marfan like features)
- Micro Cornea (abnormally small cornea)
- Radiologically Considerable Osteopenia (diminished amount of bone tissue)
The Kyphoscoliosis Type of EDS is the result of a deficiency of lysylhydroxylase (PLOD), which is a collagen-modifying enzyme. This type of EDS is inherited in an autosomal recessive manner. The Kyphoscoliosis Type of EDS can be diagnosed through a urine test.”
I confess that I have much less knowledge, myself, about these last few types of EDS, so I have no personal input in regards to each one, but it makes them NO less important than any of the others!
Arthrochalasia Type: “The Arthrochalasia Type of EDS is characterized by congenital hip dislocation which is present in all biochemically proven individuals with this type of EDS.
Severe generalized joint hypermobility with recurrent subluxations are seen in individuals with this type of EDS.
Other manifestations of this type may include
- Skin hyperextensibility with easy bruising
- Tissue fragility including atrophic scars
- Radiologically Mild Osteopenia.
The Arthrochalasia Type od EDS is caused by mutations leading to deficient processing of the amino-terminal end of proa1(I) [type A] or proa2(I)[type B] chains of collagen type I. It is inherited in an autosomal dominant manner. A skin biopsy can also diagnose this type of EDS.”
“The Dermatosparaxis Type of EDS is characterized by 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.
The Dermatosparaxis Type of EDS is caused by a deficiency of procollagenI N-terminal peptidase. It is inherited in a autosomal recessive manner. A skin biopsy can diagnose this type of EDS. “
One more, folks… stick with me!
Tenascin-X Deficient Type:
“The Tenascin-X Deficient Type of EDS is characterized by
joint hypermobility, hyperelastic skin, and fragile tissue. Lacking multiple shrinking (atrophied) scars in the skin that is often seen in the Classic Type of Ehlers-Danlos Syndrome. Inherited as an autosomal recessive genetic trait (not seen in family members or only in one generation of members of the same family).”
Okay… we have covered them all! Unfortunately, I must admit that a simple definition and diagnosis criteria goes nowhere near really explaining each type of EDS. To really understand the gravity of each situation, one would have to speak with a sufferer.
Moving on… 😉
In the past few months, I have been so lucky to make some new friends! These are friends who I can really open up to about my troubles with my EDS, POTS, pain, just about anything really! Of course I do still talk to my husband about it, and he is ever so aware of the realities of what I (really, we) deal with. However, there comes a point of frustration (on both our parts) when he can’t REALLY understand me. This is also a reality. He can sympathize… sure! But what really counts, is that he doesn’t really know how I feel. So I have turned to my support group of wonderful friends and fellow zebras. These ladies (and a few gentlemen) are wonderful, caring, compassionate, smart, and frustrated people! Collectively, we can joke about our illnesses and talk about just about anything in life, but at the end of the day, we are still sick; at the end of the day, someone needs surgery; at the end of the day, someone is having seizures, or starting another round of chemo or radiation, or physical therapy. What’s really sobering at the end of the day, is that there are so many mothers and fathers who share this with their children. I can’t imagine. To have an entire family in pain… I’m sure that they share special bonds, but I can’t imagine how I would feel if I had to watch my husband suffer like I do.
Personally, my additional health issues include: POTS, Raynaud’s, IBS, GERD, Reflux, Dysfunctional (or Dry) Vocal Chords (though I still try to sing), asthma, and non-celiac gluten sensitivity (I am gluten free).
This may seem like a lot, but the fact that I have learned to just live with it aside, what I struggle with is light compared to some of my friends.
Here is a list of just a few of the illnesses that they suffer from in addition to EDS:
-**Chiari Malformation: (from the Mayo Clinic) “Chiari malformation (kee-AHR-ee mal-for-MAY-shun) is a condition in which brain tissue protrudes into your spinal canal. It occurs when part of your skull is abnormally small or misshapen, pressing on your brain and forcing it downward. Chiari malformation is uncommon, but improved imaging tests have led to more frequent diagnoses.”
**there are subtypes of Chiari Malformation not listed in this post
– Multiple Sclerosis (MS): (from PubMed Health) “Multiple sclerosis is an autoimmune disease
that affects the brain and spinal cord (central nervous system
).” >>> This is a VERY basic definition of a very debilitating disease.
– Marfan’s Syndrome:(from the National Marfan Foundation) “Marfan syndrome is a disorder of the connective tissue. Connective tissue holds all parts of the body together and helps control how the body grows. Because connective tissue is found throughout the body, Marfan syndrome features can occur in many different parts of the body.
Marfan syndrome features are most often found in the heart, blood vessels, bones, joints, and eyes. Sometimes the lungs and skin are also affected. Marfan syndrome does not affect intelligence.” >>>Olympic Gold Medalist Michael Phelps suffers from Marfan’s.
– Fibromyalgia: (from the Mayo Clinic) “Fibromyalgia is a disorder characterized by widespread musculoskeletal pain accompanied by fatigue, sleep, memory and mood issues. Researchers believe that fibromyalgia amplifies painful sensations by affecting the way your brain processes pain signals.”
These are just a few of the additional disorders and diseases that my friends suffer from. One of my friends has had to have surgery on her abdomen and GI tract, because of extreme malfunction; another friend has a tumor that is slowly (or perhaps not so slowly) killing her…
This disorder may be tougher to deal with some days more than others, but I still have to count myself blessed when I get to be at home in my own bed at the end of every night. My friends are brave, strong, tenacious, incredible… I could go on. Mostly… they are MY heroes!
I love my Zebras… 🙂