EDS

Ehlers-Danlos syndrom (EDS)

I have got type 3, Hypermobility type...

Living whit EDS

is not a walk in the park...alot of pain every day, and the smalest task can feel like you have to climbe a mountain. Everything hurts. You have to be smart whit the little energy you got. Cronic fatigue, headaches, nausea and pain are daily battles. But there are things you can do to help yourself, rest alot inbetween action, dont "over do it". Use braces and dont be to proud to get help if you need it. In any shape, Braces, cleaning help at home, walking sticks, weelchaire or powerchair or what ever takes some burden of you. I will write more here later, and if you as I suffer from this, dont hesitate to contact me, we can help eatch other. I will also share links...still building this page:) Tere is more fact about eds here below, both in swedish and english. Just scroll down.

I wish you a great and painfree day! ;) /Maria Palm

Hypermobilittype of EDS:

(in swedish then in in english further down)

When you have EDS type 3 all or most of your joints are super flexible, hypermobile. It brings subluxations and luxations. The bones are not where they are supposed to, they move in and out of the joint. Almost any joint can be affected, but often the individual have some thats more affected than others. The skin can be soft and very smooth almost like velvet. The skin is not as fragile and as stretchy as those who got eds type 1 and 2, the classical type. Brucing can ocure, it is different from person to person. People whit type 3 can early in life get cronical pain, in some cases it never goes away and is very severe due to a mix of factors/pains: muscle pains, joint pains and nerv pains.Over 50% of people whit eds has type 3.

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.

FAKTA/FACTS

Ehlers-Danlos syndrom (EDS)

är en grupp av ärftliga bindvävsavvikelser. De sex formerna av EDS orsakas av bristfällig bildning av de normalt starka proteinstrukturer i kroppen som kallas kollagen. Kollagen – ett av kroppens grundläggande byggnadsmaterial – spelar en viktig roll när det gäller att hålla ihop, stärka och ge elasticitet till celler och vävnader. Vid EDS finns en förglesning och förändrad struktur i kollagenkedjorna, som normalt binder ihop sig tre och tre och bildar trådar (fibriller) med stor styrka. Detta gör att hållfastheten i vävnaderna blir sämre.[1][2] Skillnaderna mellan de olika formerna av EDS är så stora att de kan ses som olika sjukdomar. Hypermobilitetstypen för till exempel med sig kronisk smärta, men den drabbade kan nå lika hög ålder som befolkningen i övrigt. Den som har kärltypen har inte någon oupphörlig smärta, men avlider i regel i 30- eller 40-årsåldern av att aorta och/eller andra stora blodkärl brister.

Symtom

De olika typerna av EDS kan kännas igen av den den mix av sjukdomssymptom som dominerar:

ledöverrörlighet (hypermobilitet)

Urledvridningar och muskel-, led- och andra smärtor som blir kroniska och ibland mycket svåra, Överelastisk hud och överelasticitet i kroppsliga vävnader och membran (olika typer av väggar hos inre organ) Alltför bräcklig hud och bristfällig sårläkning Mycket försvagade blodkärl och svagheter i andra kroppsliga vävnader och membran (t.ex. tarmväggar).

De som har EDS får tidigt i livet sin kroniska överansträngningssmärta. Muskelsmärtorna är vanligen knutna till en kronisk trötthet i de muskler som oavbrutet måste stabilisera en led pga. att de ledband och ligament som egentligen ska sköta stabiliseringen inte gör detta eftersom de är överelastiska. Den överelastiska bindväven innebär att en stor del av musklernas dragningskraft inte överförs till skelettet. Muskelansträngningen vid en rörelse kan därför uppgå till 300 procent av den normala. Nervsmärtor uppstår främst som ett resultat av nötning där nervtrådarna löper genom överrörliga leder eller krampaktigt spända muskler.

Epidemiologi

EDS finns hos alla folk i hela världen, är lika vanlig hos män och kvinnor, och förekomsten uppskattas för närvarande till en på 10 000 invånare. En intressant iakttagelse är att de vanligare typerna av EDS förekommer i samma utsträckning även hos folk som i tusentals år levt isolerade från resten av världens befolkning. Exempel är maorierna på Nya Zeeland, ursprungsbefolkningarna i Australien och Nya Guinea samt indianerna i Eldslandet.

Klassifikation

Sedan 1998, efter det att ett antal läkare kommit överens om diagnoskriter och nosologi, antas det finnas sex huvudsakliga typer av EDS.

Klassisk typ

Den klassiska typen av EDS finns i en svårare och en mildare form. Huden är alltifrån något till extremt töjbar. Vissa drabbade kan dra huden från hakan ända upp till näsan. Huden är dessutom mer eller mindre skör. Den kan i extremfallet spricka mycket lätt och ha mycket svårt att läka. Ärren blir onormalt tunna och sköra som cigarettpapper. Översträckbarheten i lederna är påfallande och lederna lätt kan gå ur led. Detta gäller särskilt i fingrar, armbågar, axlar och knän. Vrickningar, där ledkulorna släpper ur sina lägen, är vanliga.

Överrörlighetstyp

Hypermobilitetstypen medför överrörlighet i alla leder och därmed luxationer (urledvridningar) och subluxationer (ledglidningar) och felställningar (t.ex. i revben). Nästan alla leder kan drabbas, men ofta har individen några leder som drabbas mer än andra: ett knä, en axel, ett nyckelben, revben, käken, osv. Huden kan vara mjuk och påfallande len, ibland nästan sammetsliknande. Huden är emellertid inte skör och tänjbar som vid den klassiska typen av EDS. Blåmärken förekommer, men variationen mellan olika personer är stor vad gäller omfattning och svårighetsgrad av blåmärken. Personer med denna typ av EDS kan tidigt i livet drabbas av kronisk smärta, som i enskilda fall kan vara oupphörlig och mycket svår på grund av en blandning av olika typer av smärta: muskelsmärtor, ledsmärtor och nervsmärtor. Över 50 procent av de EDS-drabbade har hypermobilitetstypen.

Kärltyp

Kärltypen är den form av EDS som leder till en förtidig död. Knappt 4 procent av dem som har EDS har kärltypen. Det finns en viss överrörlighet i små leder. Huden är mycket tunn, nästan genomskinlig, och kan redan när patienten är ung se åldrad ut. Underhudsblödningar uppstår mycket lätt. Det är den uttalade skörheten i artärer, mag/tarmsystem och livmoder som orsakar livshotande bristningar.

Artrochalasi-typ

Artrochalasiatypen har mindre än 1 procent av de EDS-drabbade. Här finns en markant, allomfattande ledöverrörlighet med återkommande luxationer. Ett viktigt kännetecken är att de barn som föds med denna typ av EDS har den ena eller båda höftlederna ur led (höftledsluxation) efter förlossningen. Huden är töjbar och skör, underhudsblödningar uppstår lätt.Muskelsvaghet, skolios och viss benskörhet förekommer.

Kyfoskolios-typ

Kyfoskoliotisk typ är en mycket sällsynt form av EDS med generell ledöverrörlighet generellt och uttalad muskelsvaghet redan från födseln. Dessutom hör progressiv skolios till denna typ av EDS. Ögonvitan är skör och bristningar förekommer i ögongloben. Huden är skör och bildar atrofiska ärr vid sårläkning. Blåmärken uppstår lätt.

Dermatosparaxis-typ

Dermatosparaxistypen är en ytterst ovanlig form av Ehlers-Danlos syndrom. De flesta komplikationerna har med huden att göra. Huden är mjuk och "degig", lös och överflödig med stora bråck i navel och ljumskar; dessutom är hudskörheten uttalad. Blåmärken uppkommer lätt. Prematurer är vanliga.

Genetik

Ärftligheten vad gäller artrochalasiatypen, hypermobilitetstypen, den klassiska typen och kärltypen är autosomal dominant. Varje nytt barn en person med EDS ger upphov löper 50 procents risk att ärva förälderns typ av EDS.

Två av EDS-typerna — kyfoskoliosis och dermatosparaxis — har ett ärftlighetsmönster som kallas autosomal recessivt. Detta innebär att en kopia av den muterade genen från vardera föräldern måste ärvas för att sjukdomen ska utvecklas. Den som endast ärver en kopia blir "bärare" av defekten utan att uppvisa några symptom. Om denne bärare osannolikt nog skulle hitta en partner med samma form av EDS måste deras barn få den muterade genen från båda föäldrarna för att få sjukdomen.[5]

Diagnos

Om symptomen är måttliga vid EDS, leder detta inte sällan till felaktiga diagnoser som exempelvis fibromyalgi. Det tar i allmänhet lång tid att få rätt diagnos eller att få någon diagnos alls, eftersom flera landsting saknar specialister på EDS. Eftersom EDS-patienter ska remitteras till olika kliniker beroende på problem – genetiker, hudläkare, reumatolog, ortoped, kirurg – kan det vara svårt att få en läkare som har en helhetsbild.

Källa/Source:Wikipedia,den fria encyklopedin.

EDS info in english:

Ehlers–Danlos syndrome (EDS) (also known as "Cutis hyperelastica") is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (a protein in connective tissue - usually Type I and 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 some of the problems 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.

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. 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:

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.

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.

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.

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.

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.

COL1A1, COL1A2

Dermatosparaxis

type 7C

Also very rare, with about 10 cases reported. The dermatosparaxis type is characterised by extremely fragile and sagging skin.

ADAMTS2

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." 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: 305200 – Type 5 130080 – Type 8 - unspecified gene, locus 12p13 225310 – Type 10 - unspecified gene, locus 2q34 608763 – Beasley-Cohen type 130070 – Progeroid form - B4GALT7 606408 – Due to Tenascin-X deficiency - TNXB 130090 – Type unspecified

Signs and symptoms

Individual with EDS displaying hypermobile joints.

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: Loose, unstable joints that are prone to: sprain, dislocation, subluxation (partial dislocation) and hyperextension (double jointedness) Early onset of osteoarthritis Easy bruising Dysautonomia typically accompanied by Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse) Chronic fatigue Flat feet High and narrow palate, resulting in dental crowding Vulnerability to chest and sinus infections Fragile blood vessels resulting from cystic medial necrosis with tendency towards aneurysm (even abdominal aortic aneurysm) Velvety-smooth skin which may be stretchy, is often translucent, and can contribute to underestimations of chronological age Abnormal wound healing and scar formation Low muscle tone and muscle weakness Migraines and headaches, including postural headaches from spontaneous intracranial hypotension Myalgia and arthralgia

Other, less common signs and complications may include:

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 Arnold-Chiari malformation (brain disorder) Functional bowel disorders (functional gastritis, irritable bowel syndrome) Gastroparesis Dental issues, including early-onset periodontitis Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy) Vascular skin conditions: Raynaud's phenomenon, Livedo reticularis Blue sclera Swan neck deformity of the fingers Insensitivity to local anesthetics. Premature rupture of membranes during pregnancy Platelet aggregation failure (platelets do not clump together properly) 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. The pain associated with this condition is a serious complication.

Genetics

Mutations in the following can cause Ehlers–Danlos syndrome: Fibrous proteins: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, and TNXB Enzymes: ADAMTS2, PLOD1

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.

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.

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.

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).

In general, medical intervention is limited to symptomatic therapy. Prior to pregnancy, patients with EDS should have genetic counseling. Children with EDS should be provided with information about the disorder, so they can understand why contact sports and certain 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.

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.

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.

(source wikiepidia)

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