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Progressive Management - 21st Century Ehlers-Danlos Syndrome (EDS) Sourcebook: Clinical Data for Patients, Families, and Physicians--Connective Tissue Disorders (HDCT), Classic, Hypermobility, Vascular Types

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Progressive Management 21st Century Ehlers-Danlos Syndrome (EDS) Sourcebook: Clinical Data for Patients, Families, and Physicians--Connective Tissue Disorders (HDCT), Classic, Hypermobility, Vascular Types
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21st Century Ehlers-Danlos Syndrome (EDS) Sourcebook: Clinical Data for Patients, Families, and Physicians--Connective Tissue Disorders (HDCT), Classic, Hypermobility, Vascular Types: summary, description and annotation

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This comprehensive ebook provides authoritative information and practical advice from the nations health experts about Ehlers-Danlos Syndrome (EDS) and heritable disorders of connective tissue (HDCT).Starting with the basics, and advancing to detailed patient-oriented and physician-quality information, the 21st Century Sourcebook series gives empowered patients, families, caregivers, nurses, and physicians the information they need to understand this disease. There is coverage of symptoms, diagnosis, medical testing, clinical research, drugs and potential treatments.The problems present in the group of disorders known as Ehlers-Danlos syndrome (EDS) include changes in the physical properties of skin, joints, blood vessels, and other tissues such as ligaments and tendons. People with EDS have some degree of joint looseness; fragile, small blood vessels; abnormal scar formation and wound healing; and soft, velvety skin that stretches excessively but returns to normal after being pulled. Some forms can cause problems with the eyes and spine. EDS can also lead to weak internal organs, including the uterus, intestines, and large blood vessels. Mutations in several different genes are responsible for varying symptoms in the several types of EDS. In most cases, the genetic defect involves collagen, the major protein-building material of bone.Contents: Chapter 1: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information * Chapter 2: Genetics Home Reference Information * Chapter 3: NIAMS Background Material * Chapter 4: Clinical Trials * Guide to Leading Medical Websites - Internet Resources for Medical and Health InformationThis edition includes our exclusive Guide to Leading Medical Websites with updated links to 81 of the best sites for medical information, which let you quickly check for updates from the government and the best commercial portals, news sites, reference/textbook/non-commercial portals, and health organizations.

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21st Century Ehlers-Danlos Syndrome (EDS)Sourcebook: Clinical Data for Patients, Families, and Physicians -Connective Tissue Disorders (HDCT), Classic, Hypermobility,Vascular Types

Edition 1.0 / November 2012

Medical Ventures Press, National Institutesof Health, National Institute of Arthritis and Musculoskeletal andSkin Diseases (NIAMS)

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Copyright 2012 Progressive Management

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TABLEOF CONTENTS - photo 1

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TABLEOF CONTENTS

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EHLERS-DANLOS SYNDROME (EDS)

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Questions and Answers about Heritable Disorders of ConnectiveTissue (HDCT) - October 2011

Heritable (genetic) disorders of connectivetissue (HDCTs) are a family of more than 200 disorders that affectconnective tissues. These disorders result from alterations(mutations) in genes, and thus are called heritable. All of thesediseases are directly related to mutations in genes that areresponsible for building tissues. Alterations in these genes maychange the structure and development of skin, bones, joints, theheart, blood vessels, lungs, eyes, and ears. Some mutations alsochange how these tissues work.

Some other connective tissue problems are notdirectly linked to mutations in tissue-building genes, althoughsome people may be genetically predisposed to becoming affected.Many, but not all, of the disorders discussed here are rare.

Some Common Heritable Disorders of ConnectiveTissue

Physicians and scientists have identifiedmore than 200 heritable connective tissue disorders. Some of themore common ones are listed below. Some of these are really groupsof disorders and may be known by other names.

Ehlers-Danlos syndrome. The problemspresent in the group of disorders known as Ehlers-Danlos syndrome(EDS) include changes in the physical properties of skin, joints,blood vessels, and other tissues such as ligaments and tendons.People with EDS have some degree of joint looseness; fragile, smallblood vessels; abnormal scar formation and wound healing; and soft,velvety skin that stretches excessively but returns to normal afterbeing pulled. Some forms can cause problems with the eyes andspine. EDS can also lead to weak internal organs, including theuterus, intestines, and large blood vessels. Mutations in severaldifferent genes are responsible for varying symptoms in the severaltypes of EDS. In most cases, the genetic defect involves collagen,the major protein-building material of bone.

Epidermolysis bullosa. Thecharacteristic feature of epidermolysis bullosa (EB) is blisteringof the skin, which results when skin layers separate after minortrauma. People with a mild form of the disease may have just a fewblisters on skin, whereas others may have many blisters. In someforms, blisters may form in the mouth, stomach, esophagus, bladder,and other parts of the body. EB can be both disabling anddisfiguring, and some forms may lead to early death. Defects inseveral proteins within the skin are at fault.

Marfan syndrome. People with Marfansyndrome tend to have a tall, thin build with long arms and legsand spider-like fingers. Other problems include a sideways curveof the spine (scolosis); crowded teeth; flat feet; abnormalposition of the lens of the eye; and enlargement of the beginningpart of the aorta, the major vessel carrying blood away from theheart. If left untreated, an enlarged aorta can lead to hemorrhageand even death. Marfan syndrome results from mutations in the genethat determines the structure of fibrillin-1, a protein importantto connective tissue.

Osteogenesis imperfecta. Osteogenesisimperfecta (OI) is characterized by fragile bones, low muscle mass,and loose joints and ligaments. There are 11 identified types ofOI, ranging in severity from mild to lethal. The appearance ofpeople with OI varies considerably, depending on the particularform they have and its severity. Some may have a blue or gray tintto the sclera (whites of the eyes), thin skin, growth deficiencies,and fragile teeth. They may develop scoliosis, respiratoryproblems, and hearing loss. Also known as brittle bone disease,this disorder is caused by a mutation in one of several genes thatplay a role in how the body makes collagen, the main component ofconnective tissue.

What Is Connective Tissue and What DoesHeritable Disorders Mean?

Connective tissue is the material between thecells of the body that gives tissues form and strength. Thiscellular glue is also involved in delivering nutrients to thetissue, and in the special functioning of certain tissues.Connective tissue is made up of dozens of proteins, includingcollagens, proteoglycans, and glycoproteins. The combination ofthese proteins can vary between tissues.

The genes that encode these proteins canharbor defects or mutations, which can affect the functioning ofcertain properties of connective tissue in selected tissues. Whenthis occurs, the result can be a heritable disorderone that can beinherited, or passed from parent to childof connective tissue.

How Do People Get Gene Alterations?

People with heritable disorders of connectivetissue inherit an altered gene either from one or from bothparents. We have two copies of most genes: one inherited from eachparent. Males have one copy of each gene on the X chromosome,because they have only one X chromosome, and one copy of each geneon the Y chromosome. In contrast, females have two copies of Xchromosome genes because they have two X chromosomes.

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