Ehlers-Danlos Syndrome
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome is a collective genetic disorder and primarily affects connective tissue, including joints, coetaneous tissue (skin), and lining of the blood vessels. In this disorder the firmness of the connective tissue become fragile, therefore the structure of the body become excessive flexible and holding capacity become less. Therefore any injury can cause more powerful impact than other healthy individual.
For example, if any injury requires stitching to the skin, then the Ehlers-Danlos syndrome affected person become so fragile that unable to hold the stitching tightly. In Ehlers-Danlos syndrome, the mixture of proteins, which provide fundamental structure of the connective tissue get affected and strength and elasticity of the body become loosely attached. (1,4)
Symptoms
The clinical presentation of Ehlers-Danlos Syndrome mainly affect skin and joints and related symptoms are primarily observed in these related organs:
Joints
Hyper-flexibility allow extreme range of the mobility, joints are easily dislocate as they become unstable. Joint pain is often associated with excessive extension of the joints. The Ehlers-Danlos Syndrome increases the risk of osteoarthritis.
Skin
Skin become fleshy nature means velvety, soft feeling during touching. Skin losing its elasticity and risk of easy skin injury like scarring or bruising is frequent after an even less intensive slash. The natural healing process become delay and small bruise become a serious wound. Fleshy lesion often looks as tumor due to excess pressure cause inflammation.
Less frequent symptoms are
- Unbearable musculoskeletal ache
- Delicateness in the intestinal/ arterial/uterine, which may cause easy partial or complete rupture of the organ
- Congenital scoliosis
- Scleral weakness
- Reduced muscular tone
- Prolapsed mitral valve; and
- Gum ailments.
Human collective tissues are made with collagen fibers and this is protein made tissue. The function of the collagen is providing the elasticity and strength the body and it also assists in limited stretching, so that the extended body part can safely go back to their own position. In Ehlers-Danlos Syndrome, structural problem arises due to involvement of the collagen.
The structural unit of the collagen is affected in Ehlers-Danlos Syndrome and arrangement of the structured collagen is hampered and building block of the body become deform, as this protein is available in skin, blood vessels, ligaments, muscles, tendons and organs, gums, eyes, and so on.
The severity is not same in every cases, as apart from the structure the collagen activity is differ from individual to individual. (2,4)
Types
There are six different types of Ehlers-Danlos Syndrome present. This classification is based on types of collagen get affected due to autosomal genetic disorders or some other abnormal consequences.
Hypermobility EDS
One of the leading types of Ehlers-Danlos Syndrome is Hypermobility. In this type joints are mainly get affected and comprehensive hypermobility occurs in verity of joints. The involved joints include knee, elbow (large) to toes and finger (small). In this type, the recurrence of excessive dislocations and subluxations of joints are common clinical manifestation. The most frequent joints like temporomandibular, patella and shoulder are most frequently dislocate. Apart from joints, skin also involved in hypermobility EDS with or without hyperextensibility symptom. Skin become smooth and velvety and have a tendency to bruise easily.
Chronic pain may be due to muscle spasm, degenerative arthritis or neuropathic cause is present behind. The reason of development of Hypermobility EDS is hereditary, autosomal dominant genetic involvement, though the exact type of collagen involvement is still unknown.
Other than chronic pain, severe tenderness in the joints, digestive trouble like heartburn, constipation; postural tachycardia, the bicuspid valves are not closed tightly due to prolapsed mitral valve, dizziness and uncontrolled bladder flow are also common in Hypermobility EDS. No specific diagnostic test present for detection of Hypermobility EDS, the symptomatic analysis and thorough knowledge of medical history can help to diagnose the condition.
Classic type EDS
Extreme stretchy skin with extended atrophic blemishes and joint hypermobility are main clinical presentation of Classical Type of EDS. The skin related symptoms are extends from mild to severe. The texture of skin becomes soft, fragile and velvety, which gets a trend to bruise easily. Therefore, surgical complications like hernia, scars are common. Delayed wound healing is another post operative complication; children often have prolapsed anal and cervical insufficiency. Over pressure points including the knees, elbows, forehead, and chin get molluscoid pseudo tumors or fat containing cysts are frequently originate at the forearms and shins.
Other than skin involvement joint hypermobility causes sprains, dislocations, and flat foot (pes planus). Recurrent joint dislocations are frequent in the knee joint, shoulder and jaw joints.
Vascular EDS
Vascular Type is generally regarded as the most serious form of EDS due to the possibility of arterial or organ rupture. The possible problems arise in artery, intestine, uterus; as these organs can become fragile or ruptured in general. Fatal outcome is possible due to arterial rupture, localized abdominal pain due to arterial or intestinal rapture. Varicose veins; an opening or fistula formation in-between an artery and vein, fistula in carotid-cavernous; lung collapse are common considerable complications during and after wound dehiscence or surgical procedure.
Kyphoscoliotic EDS
In Kyphoscoliosis Type EDS, a deficiency of lysylhydroxylase (PLOD) is developed. PLOD is a collagen-modifying enzyme and absence of this cause weak muscle tone and generalized joint laxity. Inherited autosomal recessive genetic cause is main responsible criteria for development of. Kyphoscoliosis Type of EDS and by performing a certain urine test can help to diagnose this type of EDS.
Arthrochalasia Type
In Arthrochalasia Type, congenital hip dislocation is a most prominent symptom. The affected individuals frequently suffer from severe generalized joint hypermobility with recurrent dislocations of joints. Other included symptoms are skin hyperextensibility with easy bruising; tissue fragility; decreased muscle tone; and mild osteopenia. Deficiency of amino-terminal end of proa1(I) [type A] or proa2(I)[type B] chains of collagen type I is the responsible factor for this type of EDS. It is a type of autosomal dominant genetic disorder.
Dermatosparaxis Type EDS
In this type skin become severely fragile and easily bruise. Delayed wound healing, soft skin texture, haernia also a common feature. The incidence rate of this type of EDS is less common than other types. deficiency of procollagenI N-terminal peptidase is main cause of dermatosparaxis Type EDS. This condition is transferred through inherited in an autosomal recessive manner. A skin biopsy can diagnose this type of EDS. (1,3)
Treatment
Medication and physiotherapy is commonly prescribed for symptomatic relief, as this is non curable condition. In rare cases, surgical intervention is also performed.
Medication
Different over the counter analgesic like ibuprofen containing medicine is helpful to reduce the pain. Even doctor can prescribe strong analgesic to control severe pain.
Antihypertensive drugs also a choice of treatment to provide relaxation in the arterial wall.
Physiotherapy
Recommendation of Physiotherapy is provided to strengthen joints and stabilize the joints. Specific braces are also recommended to avoid frequent joint dislocation.
Surgery
Surgery is required to rectify the extreme joint dislocation, but surgical complication should be considerable factor. (2,4)
Pictures
References
- Ehlers-Danlos Syndrome; http://ehlers-danlos.com/what-is-eds/
- Ehlers-Danlos Syndrome; Mayo Clinic; Retrieve from: http://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/basics/treatment/con-20033656
- Ehlers-Danlos Syndrome;NHS choices; Retrieve from: http://www.nhs.uk/conditions/ehlers-danlos-syndrome/Pages/Introduction.aspx
- Ehlers-Danlos Syndrome, National Organization for Rare disease; Retrieve from: http://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/
