January 13, 2012
I have been on estrogen and progesterone for 6 years. only that far into transition due to finances
Specific_Questions: I have Ehlers-Danlos Syndrome and worried i cant get grs due to skin. Also wondering about grants im on disability and prolly will never see my change unless a miracle happens.
Jennifer
January 13, 2012
Good morning Jennifer
Not familiar with Ehlers-Danlos, but your inquiry sent me scurrying to Wikipedia. Am especially concerned about insensitivity to local anesthetics and problems with platelet aggregation, very serious for major surgery. You undoubtedly know a lot more about this.
Affects 1/5000 births and the severity symptoms and exact type varies widely.
Ideally you should be done in a hospital environment, and we only work at our outpatient center appended to our office.
Other than occasional promotions (vide infra) we cannot subsidize surgery like perhaps a University or state could.
This December, 2011 we re-opened a Grant program with the slogan “the first 12 cases in 2012″ (was formerly the first 10 in 2010), based upon need of course. 5 positions have already been taken.
After reading the attached, if you believe I am the doctor for you, please initiate a consultation over the phone with our office by sending us your name, address, and telephone number in an envelope along with a check for 250. We’ll get started ASAP. We’ll have a lot to talk about.
The grant should reduce your fees by about 10 to 20% from our typically affordable price. Certain restrictions regarding age and medical history may apply.
Cordially,
Harold M. Reed
1111 Kane Concourse, Suite # 311
Bay Harbor Islands, Florida 33154
305-865-2000
Ehlers?Danlos syndrome (EDS) (also known as “Cutis hyperelastica”[1]) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (Type I or III). The collagen in connective tissue helps tissues to resist deformation. In the skin, muscles, ligaments, blood vessels and visceral organs, collagen plays a very significant role and with increased elasticity, secondary to abnormal collagen, pathology results. Depending on the individual mutation, the severity of the syndrome can vary from mild to life-threatening. There is no cure, and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems. Corrective surgery may help with the frequent injuries that may develop in certain types of EDS, although the condition means that extra caution is advised and special practices observed.
The syndrome is named after two doctors, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France, who identified it at the turn of the 20th century.
Contents
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[edit] Classification
In the past, there were more than 10 recognized types of Ehlers?Danlos syndrome. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names.[4] These six major types are listed here. Other types of the condition may exist, but they have been reported only in single families or are not well characterized. Except for hypermobility, the specific mutations involved have been identified and they can be precisely identified by genetic testing; this is valuable due to a great deal of variation in individual presentation of symptoms which may confuse classification of individuals on purely symptomatic basis. In order of prevalence in the population, they are:
Name Number Description OMIM Gene(s)
Hypermobility type 3 Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant or autosomal recessive mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant. Extreme hypermobility is the hallmark of this type. 130020 COL3A1, TNXB
Classical types 1 & 2 Affects approximately 1 in 20,000 to 50,000 people. It is caused by autosomal dominant mechanism and affects type-V collagen, as well as type I. Type 1 typically presents with severe skin involvement, and type 2 presents with mild to moderate skin involvement. 130000, 130010 COL5A1, COL5A2, COL1A1
Vascular type 4 Is an autosomal dominant defect in the type-III collagen synthesis; affecting approximately 1 in 100,000 to 250,000 people. The vascular type is considered one of the more serious forms of Ehlers?Danlos syndrome because blood vessels and organs are more prone to tearing (rupture). Many patients with EDS type 4 express a characteristic facial appearance (large eyes, small chin, thin nose and lips, lobeless ears), have a small stature with a slim build, and typically have thin, pale, translucent skin (veins can usually be seen on the chest and abdomen). About one in four people with vascular type EDS develop a significant health problem by age 20 and more than 80 percent develop life-threatening complications by age 40. 130050 COL3A1
Kyphoscoliosis type 6 Is an autosomal recessive defect due to deficiency of an enzyme called lysyl hydroxylase; it is very rare, with fewer than 60 cases reported. The kyphoscoliosis type is characterised by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness. 225400, 229200 PLOD1
Arthrochalasis types 7A & B Is also very rare, with about 30 cases reported. It affects type-I collagen. The arthrochalasia type is characterised by very loose joints and dislocations involving both hips. 130060 COL1A1, COL1A2
Dermatosparaxis type 7C Also very rare, with about 10 cases reported. The dermatosparaxis type is characterised by extremely fragile and sagging skin. 225410
[edit] Other types
Although the above classifications are well defined, it is rare for a case to fit neatly in a single category, and cross-over symptoms lead to under-diagnosis or mis-diagnosis. So patients should not rely on the “fact” of having a certain type of EDS if cross-over symptoms are evident and might be life-threatening.
“The large number of distinct types of the Ehlers?Danlos syndrome that have already been identified indicates great heterogeneity, but clearly that heterogeneity is not exhausted by the present classification.” [1] Forms of EDS within this category may present with soft, mildly stretchable skin, shortened bones, chronic diarrhea, joint hypermobility and dislocation, bladder rupture, or poor wound healing. Inheritance patterns within this group include X-linked recessive, autosomal dominant, and autosomal recessive. Examples of types of related syndromes other than those above reported in the medical literature include:
[edit] Signs and symptoms
![[]](http://en.wikipedia.org/wiki//upload.wikimedia.org/wikipedia/commons/thumb/3/3c/Ehlers-Danlos_thumb.jpg/200px-Ehlers-Danlos_thumb.jpg)
![[]](http://en.wikipedia.org/wiki//upload.wikimedia.org/wikipedia/commons/thumb/9/97/Ehlers-Danlos_syndrome2.jpg/200px-Ehlers-Danlos_syndrome2.jpg)
Individual with EDS displaying hypermobile joints.
![[]](http://en.wikipedia.org/wiki//bits.wikimedia.org/skins-1.18/common/images/magnify-clip.png)
Individual with EDS displaying skin hyperelasticity
Signs vary widely based on which type of EDS the patient has. In each case, however, the signs are ultimately due to faulty or reduced amounts of collagen. EDS most typically affects the joints, skin, and blood vessels, the major signs and symptoms include:
Other, less common signs and complications may include:
- Headaches caused by an acquired Arnold-Chiari malformation (brain disorder)[8]
- Osteopenia (low bone density)
- Talipes equinovarus (club foot), especially in the Vascular type
- Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility[9]
- Functional bowel disorders (functional gastritis, irritable bowel syndrome)
- Gastroparesis
- Dental issues, including early-onset periodontitis
- Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy) [10]
- Vascular skin conditions: Raynaud’s phenomenon, Livedo reticularis
- Blue sclera
- Swan neck deformity of the fingers [11]
- Insensitivity to local anesthetics.[12]
- Premature rupture of membranes during pregnancy [13]
- Platelet aggregation failure (platelets do not clump together properly) [14]
- Weak muscle tone (hypotonia) in infancy, which can delay the development of motor skills such as sitting, standing, and walking
- Arterial/intestinal/uterine fragility or rupture
Because it is often undiagnosed or misdiagnosed in childhood, some instances of Ehlers?Danlos syndrome have been mischaracterized as child abuse.
[edit] Genetics
Mutations in the following can cause Ehlers?Danlos syndrome:
Mutations in these genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissue throughout the body. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in the features of the disorder.
Inheritance patterns depend on the type of Ehlers?Danlos syndrome. Most forms of the condition are inherited in an autosomal dominant pattern, which means only one of the two copies of the gene in question must be altered to cause the disorder. The minority are inherited in an autosomal recessive pattern, which means both copies of the gene must be altered for a person to be affected by the condition. It can also be an individual (de novo or “sporadic”) mutation. Please refer to the summary for each type of Ehlers?Danlos syndrome for a discussion of its inheritance pattern.
[edit] Diagnosis
A diagnosis can be made by clinical observation. Both DNA and biochemical studies can be used to help identify affected individuals. In some cases, a skin biopsy has been found to be useful in confirming a diagnosis. Unfortunately, these tests are not sensitive enough to identify all individuals with EDS. If there are multiple affected individuals in a family, it may be possible to perform prenatal diagnosis using a DNA information technique known as a linkage study.
[edit] Differential diagnosis
There are several disorders that have some of the characteristics of Ehlers?Danlos syndrome. For example, in cutis laxa the skin is loose, hanging, and wrinkled. In EDS, the skin can be pulled away from the body but is elastic and returns to normal when let go. In Marfan syndrome, the joints are very mobile and similar cardiovascular complications occur. In the past, Menkes disease, a copper metabolism disorder, was thought to be a form of Ehlers?Danlos syndrome. Because of these similar disorders, a correct diagnosis is very important.[16]
[edit] Management
There is no cure for Ehlers Danlos Syndrome. The treatment is supportive. Close monitoring of the cardiovascular system, physical therapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing) may be helpful. One should avoid activities that cause the joint to lock or overextend.
A physician may prescribe bracing to stabilize joints. Surgical repair of joints may be necessary at some time. 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. To decrease bruising and improve wound healing, some patients have responded to ascorbic acid (vitamin C).
[edit] Prognosis
The outlook for individuals with EDS depends on the type of EDS with which they have been diagnosed. Symptoms vary in severity, even within one sub-type, and the frequency of complications changes on an individual basis. Some individuals have negligible symptoms while others are severely restricted in their daily life. Extreme joint instability, pain, and spinal deformities may limit a person’s mobility. Most individuals will have a normal lifespan. However, those with blood vessel involvement have an increased risk of fatal complications.
EDS is a lifelong condition. Affected individuals may face social obstacles related to their disease on a daily basis. Some people with EDS have reported living with fears of significant and painful ruptures, their condition worsening, becoming unemployed due to physical and emotional burdens, and social stigmatization in general.
[edit] Epidemiology
Ehlers?Danlos syndrome is an inherited disorder estimated to occur in about 1 in 5000 births worldwide. Initially, prevalence estimates ranged from 1 in 250,000 to 1 in 500,000 people, but these estimates were soon found to be vastly inaccurate as the disorder received further study and medical professionals became more adept at accurately diagnosing EDS. In fact, many experts now believe that Ehlers?Danlos syndrome may be far more common than the currently accepted estimate due to the wide range of severities in which the disorder presents.[18] However, the prevalence of the six types differs dramatically. The most commonly occurring type is the hypermobility type, followed by the classical type. The other types of Ehlers?Danlos syndrome are very rare. For example, fewer than 10 infants and children with the dermatosparaxis type have been described worldwide. Ehlers?Danlos affects both males and females of all racial and ethnic backgrounds, although some types are more common among certain groups than others.