Ehlers Danlos Syndrome

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Ehlers Danlos Syndrome
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Specialty scores for Ehlers Danlos Syndrome

Overview

Ehlers Danlos Syndrome is a group of genetic disorders that affect the connective tissue of the body. It affects about 1 in 5,000 people globally & the disease course, features and prognosis depend on the specific disorder. Association of excess mobility with the disease was first described by Hippocrates in 400 BC. The disease is named after two physicians, Edvard Ehlers from Denmark and Henri-Alexandre Danlos from France. Although Ehler Danlos Syndrome is potentially life-threatening, the majority of patients have a normal lifespan. However, the patients with friable blood vessels have a high risk of fatal complications, including arterial rupture, which is the most common cause of sudden death. The syndrome has 13 types and the median life-expectancy in the patients with vascular EDS is 48 years.

Hypermobile type is characterized primarily by joint hypermobility affecting both large and small joints. Classical type is mainly associated with extremely elasticity of the skin that is smooth, fragile and bruises easily. Vascular type is associated by thin, translucent skin that is extremely fragile and bruises easily, acrogeria, characteristic facial features and pneumothorax. Kyphoscoliosis type is associated with muscular hypotonia, delayed development, spine and bony deformities. Arthrochalasia type is characterized by joint hypermobility and congenital hip dislocation. Dermatosparaxis type is associated with fragile and redundant skin and hernias. Classical-like type is characterized by skin hyperextensibility with velvety skin texture and generalized joint hypermobility. Spondylodysplastic type is associated with short stature, muscle hypotonia and bowing of limbs. Musculocontractural type is characterized by multiple adduction-flexion contractures, clubfoot, characteristic craniofacial features, and skin features. Myopathic type is characterized by muscle hypotonia, muscle atrophy, joint contractures and hypermobility of distal joints. Periodontal type is characterized by periodontitis, lack of attached gingival and pretibial plaques. Cardiac-valvular type is associated with severe cardiac-valvular problems (aortic valve, mitral valve), skin problems (hyperextensibility, easy bruising, scars, thin skin) and joint hypermobility.

Causes:

Only some types of Ehlers Danlos syndromes can be identified as linked to specific genetic variation. Ehler Danlos Syndrome can be caused by mutations in many genes that encode for fibrous proteins, such as COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, and TNXB. Similarly, the syndrome can also arise due to mutations in certain genes that encode for specific enzymes, such as ADAMTS2, PLOD1, B4GALT7, DSE, and D4ST1/CHST14. Genetic mutations alter the structure, production, or processing of collagen or proteins that interact with collagen. Collagen is responsible for providing structure and strength to connective tissue. Malformation in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, giving rise to the features of the disorder.

Inheritance patterns are specific of the particular type of the Ehlers–Danlos syndrome. Most forms are inherited in an autosomal dominant pattern, which means mutation in only one of the two copies of the gene is sufficient to cause the disorder. The minority are inherited in an autosomal recessive pattern, in which both copies of the gene must be altered for a person to be affected by the disorder. Ehlers Danlos Syndrome can also occur due to sporadic (individual or de novo) mutation.

Signs and symptoms:

Musculoskeletal signs and symptoms include hyperflexibility of joints & instability of joints that are prone to dislocation, sprain, subluxation, and hyperextension. Other features may include thoracic outlet syndrome, chronic degenerative joint disease, early onset of advanced osteoarthritis, swan neck deformity of the fingers, boutonniere deformity of the fingers, tearing of tendons or muscles, and spine deformities, such as kyphosis (hump in thoracic spine), scoliosis (excessive curvature of the spine), occipitoatlantoaxial hypermobility and tethered spinal cord syndrome.

Patients may also suffer with myalgia (muscle pain), arthralgia (joint pain), Osgood Schlatter disease & Trendelenburg's sign. Infants usually suffer with delayed walking (beyond 18 months of age), and bottom-shuffling instead of crawling. Skin features in Ehler Danlos Syndrome consist of fragility of skin that is prone to easy tearing, atrophic cigarette paper scars, redundant skin folds, easy bruising, molluscoid pseudotumors (predilection for pressure points), petechia, atrophic scars, palmar wrinkling, subcutaneous spheroids, piezogenic papules & livedo reticularis.

Cardiovascular manifestations include arterial rupture, valvular heart disease, such as mitral valve prolapse, heart conduction abnormalities, aneurysm of ascending aorta, rupture of aortic aneurysm, varicose veins, raynaud’s phenomenon, postural orthostatic tachycardia syndrome, heart murmurs and cardiac arrhythmias. Patients of Vascular type of Ehler Danlos Syndrome frequently present with short stature, thin scalp hair, large eyes, thin nose, lobeless ears, club foot, acrogeria (premature aging of the skin of the hands and feet), sunken chest (pectus excavatum), protruding chest (pectus carinatum), recession of the gums, and reduced fat under the skin. A subset of patients may develop Brittle Cornea Syndrome characterized by thin cornea, progressive keratoglobus, and blue sclerae.

Other signs and symptoms of the syndrome include hiatial hernia, gastroesophageal reflux (GERD), gastrointestinal dysmotility, anal prolapse, spontaneous pneumothorax, dysautonomia, sclera fragility, arachnodactyly, orthodontitis, short stature, muscular hypotonia, gorlin’s sign (ability to touch the tongue to nose), carpal tunnel syndrome, acroparesthesia, and small fiber neuropathy. Patients may become insensitive to local anesthetics and display Arnold-Chiari malformation. There may be platelet aggregation failure in which the platelets do not clump together properly. Pregnancy related signs and symptoms include increased pelvic and lower abdominal pain, mild to moderate peripartum bleeding, insufficiency of the cervix, uterine tearing or rupture, and premature rupture of membranes.

Cranial vertebral instability may be caused due to trauma(s) to the head and neck areas such as whiplash and concussion. Due to inability of the ligaments in neck to heal properly, the neck structure is devoid of the ability to support the skull, which can sink into the brain stem blocking the normal flow of cerebral spinal fluid, leading to autonomic nervous system abnormalities. Celiac disease may be associated with Ehler Danlos Syndrome.

Diagnosis:

Diagnosis can be made by appropriate medical history and comprehensive clinical examination. To assess the degree of joint hypermobility, the Beighton criteria are widely used. Diagnostic tests include radiography, collagen gene mutation testing, collagen typing via skin biopsy, echocardiogram, imaging studies, and lysyl hydroxylase or oxidase activity.

Management:

No permanent cure is known for Ehlers Danlos Syndrome & the treatment is entirely supportive. Orthopedic devices are used for the prevention of further joint damage. Those physical activities must be avoided that may cause the joint to lock or overextend. Application of casts can be done to stabilize joints. Physical and occupational therapies are helpful to help strengthen muscles and to make patients learn how to properly use and preserve their joints. Medication can be prescribed to achieve pain control or manage cardiac, digestive, or other related conditions. Vitamin C is associated with some cases of decrease in bruising and improvement in wound healing. Emotional support, behavioral and psychological therapy can be useful, especially in the early age groups and advanced cases.

Surgical options to manage joint problems include joint debridement, tendon replacements, capsulorraphy, and arthroplasty. However, general consensus is that conservative treatment is more effective than surgery, particularly since patients are burdened with extra risks of surgical complications due to the syndrome. Surgery in such patients requires meticulous patient selection, careful planning and observation both before and after surgery, careful tissue handling and a longer immobilization afterward.

Other names of the condition:

EDS

E-D Syndrome