COPING With A Chronic illness
Not All Stripes Are Created Equal. And neither are those who suffer from Ehlers-Danlos Syndrome. Raise awareness and rally for support.
What is EDS
Individuals with Ehlers-Danlos syndromes (EDS) have a genetic 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 patients with EDS are the result of faulty or reduced amounts of collagen. Collagen is a protein, which acts as a "glue" in the body, adding strength and elasticity to connective tissue.
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 defined as 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.
It is much the same thing with EDS and collagen. The collagen with which a person with EDS is built is not structured the way it should be, or only part of it is produced. With a badly built or processed collagen, the tissue that relies on it can be pulled beyond normal limits and thus be damaged. Collagen is the most abundant protein in the body and types of collagen can be found almost anywhere: in skin, muscles, tendons and ligaments, blood vessels, organs, gums, eyes, and so on.
The problems resulting from one’s body being built out of a protein that behaves unreliably can be widespread, in a wide range of severities, and show up in places that seem unrelated until the underlying connection to EDS is recognized.
How prevalent is EDS?
At this time, research statistics of EDS show the prevalence as 1 in 2,500 to 1 in 5,000 people. Recent clinical experience suggests EDS is more common. The condition 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 Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children.
What is the prognosis of someone with EDS?
The prognosis depends on the type of EDS and the individual. Life expectancy can be shortened for those 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. There can be a wide or narrow range of severity within a family, but each person’s case of EDS will be unique. While there is no cure for EDS, there is treatment for symptoms, and there are preventative measures that are helpful for most.
What Are the symptoms of eds?
Clinical manifestations of EDS are most often joint and skin related and may include: Collagen is a strong, fibrous protein that lends strength and elasticity to connective tissues such as the skin, tendons, organ walls, cartilage, and blood vessels. Each of these connective tissues requires collagen tailored to meet its specific purposes. The many roles of collagen are reflected in the number of genes dedicated to its production. There are at least 28 genes in humans that encode at least 19 different types of collagen. Mutations in these genes can affect basic construction as well as the fine-tuned processing of the collagen.Each type of EDS is defined as a distinct problem in making or using one of the types of collagen. Collagen is what the body uses to provide strength and elasticity to tissue; normal collagen is a strong protein that allows tissue to be stretched but not beyond its limit, and then safely returns that tissue to normal. Collagen is found throughout the body, and EDS are a structural problem. An analogy: If one builds a house with bad materials, with cheap nails or only half the wood required, problems will arise. Some problems are more likely to show up than others, but because the bad or missing materials are everywhere and not necessarily visible, one can be surprised where some problems occur.EDS is a group of inherited connective tissue disorders that usually affects the skin, ligaments, joints, and blood vessels. Classification of EDS types was revised in 1997.
The new classification involves categorizing the different forms of EDS into six major sub-types, including classical, hypermobility, vascular, kyphoscoliosis, arthrochalasia, and dermatosparaxis, and a collection of rare or poorly defined varieties. This new classification is simpler than the previous classification system and is primarily based on descriptions of the actual symptoms.
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.It is much the same thing with EDS and collagen. The collagen with which a person with EDS is built is not structured the way it should be, or only part of it is produced. With a badly built or processed collagen, the tissue that relies on it can be pulled beyond normal limits and thus be damaged. Collagen is the most abundant protein in the body and types of collagen can be found almost anywhere: in skin, muscles, tendons and ligaments, blood vessels, organs, gums, eyes, and so on.The problems resulting from one’s body being built out of a protein that behaves unreliably can be widespread, in a wide range of severities, and show up in places that seem unrelated until the underlying connection to EDS is recognized.
Each type of EDS is defined as a distinct problem in making or using one of the types of collagen. Collagen is what the body uses to provide strength and elasticity to tissue; normal collagen is a strong protein that allows tissue to be stretched but not beyond its limit, and then safely returns that tissue to normal. Collagen is found throughout the body, and EDS are a structural problem. An analogy: If one builds a house with bad materials, with cheap nails or only half the wood required, problems will arise. Some problems are more likely to show up than others, but because the bad or missing materials are everywhere and not necessarily visible, one can be surprised where some problems occur.
Published on Feb 21, 2015
Mayo Clinic Geneticist, David Deyle, M.D., discusses Ehlers Danlos syndrome. Topics include an overview of the condition, signs and symptoms, most common types, diagnosis, and treatment options.
A physician referral is required to be evaluated for Ehlers Danlos Syndrome at Mayo Clinic. Referrals can be submitted by contacting the Referring Physicians Office (800)533-1564 or online: https://www.mayoclinic.org/medical-pr...