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What are Ehlers-Danlos syndromes?
- The Ehlers-Danlos syndromes (EDS) are a group of genetic connective tissue disorders that are currently classified in a system of 13 types. Each case of EDS is different, and there's no singular cure for the condition.
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Signs and symptoms of EDS
- Pain is almost universal for Ehlers-Danlos syndromes sufferers. EDS can make your joints loose and extremely tender, and your skin thin and easily bruised.
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Fatigue
- Another overriding symptom of EDS is fatigue. Sleep disorders, chronic pain, muscle deconditioning, and nutritional deficiencies can all contribute towards insomnia.
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Musculoskeletal
- Clinical manifestations of EDS are typically joint and skin related (musculoskeletal). The most common genetic connective tissue disorder is hypermobile Ehlers-Danlos syndrome (hEDS).
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Hypermobile Ehlers-Danlos syndrome (hEDS)
- The hypermobile type of EDS affects at least one in 5,000 people globally. The condition is typically characterized by joint hypermobility—joints that move further than the normal range.
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Unstable joints
- While hEDS is considered the least severe type of the condition, significant complications, primarily musculoskeletal, can and do occur. Unstable joints are prone to frequent sprain, dislocation, subluxation (partial dislocations), and hyperextension.
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Arthralgia
- Arthralgia (joint paint or stiffness) is a common complaint of those suffering from hEDS. Bone deformity can promote the early onset of advanced osteoarthritis and chronic degenerative joint disease.
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Myalgia
- Myalgia, or muscle aches or pain, is an equally painful manifestation of hEDS. The condition can involve ligaments, tendons, and fascia—the soft tissues that connect muscles, bones, and organs.
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Neuralgia
- Neuralgia is a common symptom across the spectrum of EDS. A pain in a nerve pathway, neuralgia is especially debilitating—a sharp, stabbing, and burning sensation that can be mild or severe and persistent or intermittent.
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Neuropathy
- Musculoskeletal disorders associated with hEDS and other types of Ehlers-Danlos syndromes include hernias, weakness of the voice box and larynx, and neuropathy—damage or dysfunction of one or more nerves that typically results in numbness, tingling, muscle weakness, and pain in the affected area frequently originating in the hands and feet.
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Classical Ehlers-Danlos syndrome (cEDS)
- Classical Ehlers-Danlos syndrome (cEDS) is characterized by velvet soft, extremely elastic, and fragile skin. Generalized joint hypermobility, with or without dislocation, is also prevalent.
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Hyperelasticity of skin
- The hyperelasticity of the skin is profound. Soft and doughy to the touch, the weakened connective tissue allows the skin to stretch much more than usual.
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Atrophic scar
- Other clinical features of cEDS include fragile skin that can split easily with minimal trauma. This can lead to significant scarring, the appearance of which resembles tissue paper as the skin cannot regenerate tissue correctly. A wound site like this is known as an atrophic scar.
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Hematoma
- If it doesn't split, the skin of those with cEDS still tends to suffer easy bruising, which may lead to permanent discoloration and is often visible on the shins.
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Other cEDS features
- Among other conditions associated with cEDS is slow and poor wound healing, the development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas), hernias, and prolapse and cervical insufficiency.
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How many people suffer from cEDS?
- Worldwide prevalence of cEDS is estimated at one in every 20,000 people.
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Vascular Ehlers-Danlos syndrome (vEDS)
- The third most common type of the condition, vascular Ehlers-Danlos syndrome (vEDS) weakens blood vessels and makes your organs more likely to have a tear. It's characterized by arterial, intestinal, and/or uterine fragility, and is considered the most serious of the 13 syndrome types.
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vEDS
- A rare disorder estimated to affect between one in 50,000 and one in 200,000 people, vEDS typically manifests itself by aneurysms (a bulge in an artery), rupture of the bowel, and rupture of the womb during pregnancy.
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Translucent skin
- External vEDS indicators include thin, translucent skin, which is easily bruised.
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Aged hands
- Other visual characteristics of vEDS include thin vermilion lips, narrow nose, prominent eyes, and an aged appearance to the extremities, particularly the hands.
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Causes of EDS
- Ehlers-Danlos syndromes occur when your body doesn't make a protein called collagen in the right way.
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Collagen
- Collagen helps form the connections that hold your body's bones, skin, and organs together.
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Structural protein
- Collagen is the main structural protein in the body's various connective tissues, so if there's a problem with it, those structures can weaken and degenerate.
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Genetic disorder
- EDS are rare genetic disorders. This means they are hereditary. If one parent has the condition, it's very likely their child will have it as well. However, depending on the type of EDS, the faulty gene may also be inherited from both parents. Sometimes the defective gene is not inherited, but occurs in the person for the first time.
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Varying symptoms
- EDS can affect people in different ways. For some, the condition is relatively mild, while for others their symptoms can be very painful and disabling.
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Children and EDS
- EDS is something you are born with but symptoms may not manifest themselves until later in life. Indeed, many genetic conditions become apparent during puberty. However, children can sometimes be severely affected by the onset of EDS.
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Challenging
- Children born with the most common form of EDS, hypermobile Ehlers-Danlos syndrome, will likely display instability of the joints leading to painful dislocations or subluxations. A youngster with any type of EDS requires special care, the challenge being to meet the needs of the child without them feeling they have been labeled as different to their peers.
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Getting medical advice
- If the child's EDS is acute or if they have one of the rare types, then a school care plan will be needed. A frequent medical checkup program with a specialist healthcare provider is also recommended.
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When there's no cause for concern
- For others, there's little cause for concern if you only have a few symptoms and they're not causing any problems. Joint hypermobility on its own, for example, is relatively common, affecting around one in 30 people. It's unlikely therefore to be caused by EDS if you do not have any other symptoms.
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When to seek specialist advice
- If symptoms are acute and aggravating, your physician may refer you to a joint specialist (rheumatologist). Furthermore, if there's a possibility you may have one of the rare types of EDS, your general practitioner can make an appointment on your behalf to see a genetics specialist for an assessment. Sources: (The Ehlers-Danlos Society) (The Ehlers-Danlos Support UK) (MedlinePlus) (GeneReviews) (Orphanet) (NHS) See also: Stars who suffer from rare diseases
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Understanding Ehlers-Danlos syndromes
May is Ehlers-Danlos Awareness Month
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Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders the symptoms of which include joint hypermobility, fragile skin, muscle pain, easy bruising, loose joints, digestive disorders, muscle weakness, and chronic fatigue. These mostly rare and inherited conditions number 13 types, with hypermobile, classical, and vascular EDS being the most common. There's no cure for EDS, but symptoms can often be treated and managed.
Are you curious to learn more about this relatively obscure medical disorder? Click through for a better understanding of Ehlers-Danlos syndromes.
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