Ehlers–Danlos syndrome

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I have several family members with this and continue to learn more about it. This information is from Wikipedia.

Ehlers–Danlos syndrome

Ehlers–Danlos syndrome (EDS) (also known as Cutis hyperelastica[1]) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (Type I or III). The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen renders these structures more elastic. Depending on the individual, the severity of the mutation 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. Occupational and physical therapy, bracing, and corrective surgery may help with the frequent injuries and pain that tend to develop in certain types of EDS, although extra caution and special practices are advised to prevent permanent damage.[2]

The syndrome is named after two doctors, Edvard Ehlers from Denmark, and Henri-Alexandre Danlos from France, who identified it at the turn of the 20th century.[3]

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 typically affects the joints, skin, and blood vessels. Following is a list of major signs and symptoms.

Musculoskeletal:

Hyper-flexible joints (It is possible to be very flexible or have “double joints”, however, this is not the same as EDS.)
Unstable joints that are prone to: sprain, dislocation, subluxation and hyperextension[7]
Early onset of advanced osteoarthritis[8]
Chronic degenerative joint disease[8]
Swan neck deformity of the fingers[9]
Muscle fatigue that increases with use
Weak muscle tone (hypotonia) in infancy, which can delay the development of gross motor skills such as sitting, standing, and walking
Osteopenia (low bone density)
Stretchy ligaments and tendons
Tearing of tendons or muscles[10]
Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility[11]
Myalgia (muscle pain) and arthralgia (joint pain),[12] which may be severe
Skin:

Stretchy skin with a velvety texture
Fragile skin that tears easily[8]
Easy bruising, which can be severe
Abnormal wound healing and scar formation, leading to widened atrophic scars
Redundant skin folds[8]
Molluscoid pseudotumors,[13] especially on pressure points
Subcutaneous spheroids[13]
Fatty growths on forearms or shins
Angioplasia
Cardiovascular:

Fragile blood vessels with tendency towards aneurysm including abdominal aortic aneurysm
Life-threatening carotid-cavernous fistula
Unpredictable rupture of medium-sized arteries, especially cerebral arterial rupture
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)[14]
Postural orthostatic tachycardia syndrome (P.O.T.S.)
Orthostatic intolerance, theoretically caused by excessive distension of veins (upright posture causes blood pooling in lower body, leading to a 44-60% decrease in cerebral blood flow velocity
Dilation and/or rupture of ascending aorta[15]
Cystic medial necrosis
Varicose veins
Vascular skin conditions: Raynaud’s phenomenon, Livedo reticularis
Other manifestations or complications:

High and narrow palate, resulting in dental crowding
Early-onset periodontitis
Nearsightedness, which may be extreme
Blue sclera
Retinal detachment
Flat feet
Digestive disorders: (gastritis, gastroesophageal reflux disease, irritable bowel syndrome, diverticulitis, gastroparesis (partial paralysis of the stomach))
Hiatial hernia[13]
Anal prolapse[13]
Dysautonomia
Vulnerability to chest and sinus infections
Collapsed lung (pneumothorax)[8]
Intestinal/uterine fragility or spontaneous rupture
Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy)[16]
Anxiety disorders, depression, psychosocial dysfunction
Insensitivity to local anesthetics.[17]
Arnold–Chiari malformation (brain disorder)[18]
Cranial instability
Migraines
Problems with concentration and/or memory
Problems with proprioception including dysmetria
Talipes equinovarus (club foot), especially in the Vascular type
Platelet aggregation failure (platelets do not clump together properly)[19]
Bleeding diathesis
Petechiae
Cerebrospinal fluid leak (rent in the meningeal tissues: dura, arachnoid)
Temporomandibular joint syndrome
Surgical complications and intraoperative problems due to tissue fragility
Pregnancy complications: increased pain, mild to moderate peripartum bleeding, cervical insufficienty, uterine tearing,[10] or premature rupture of membranes.[20]
Because it is often undiagnosed or misdiagnosed in childhood, some instances of Ehlers–Danlos syndrome have been mischaracterized as child abuse.[21] The pain associated with this condition is a serious complication.

Diagnosis

A diagnosis can be made by an evaluation of medical history and clinical observation. The Beighton scale is widely used to assess the degree of joint hypermobility. Both DNA and biochemical studies can be used to help identify affected individuals. Diagnostic tests include: collagen gene mutation testing, collagen typing via skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity. However, these tests are not able to confirm all cases, especially in instances of an unmapped mutation, and so clinical evaluation by a geneticist remains essential. 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 share some characteristics with 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. People with EDS tend to have a “Marfanoid” appearance (e.g. tall, skinny, long arms and legs, “spidery” fingers). However, it is important to note that physical appearance and features in several types of Ehlers-Danlos Syndrome also have characteristics including short stature, large eyes, and the appearance of a small mouth and/or chin, due to a small palate. The palate can also have a high arch, causing dental crowding. Blood vessels can sometimes be easily seen through translucent skin, especially on the chest. In the past, Menkes disease, a copper metabolism disorder, was thought to be a form of Ehlers–Danlos syndrome. It is not uncommon for patients to be misdiagnosed with Fibromyalgia, bleeding disorders or a variety of other disorders that can mimic EDS symptoms before a correct diagnosis is made. Because of these similar disorders, and complications that can arise from an unmonitored case of EDS, a correct diagnosis is very important.[22]

Management

There is no cure for Ehlers Danlos Syndrome. Treatment is palliative. Close monitoring of the cardiovascular system, physiotherapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing, casting) may be helpful. Orthopedic instruments are helpful for the prevention of further joint damage, especially for long distances, although it is advised that individuals not become dependent on them until there are no other options for mobility. One should avoid activities that cause the joint to lock or overextend.

A physician may prescribe casting to stabilize joints. Physicians may refer a patient to an orthotist for orthotic treatment (bracing). 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.[23][24][25] There are different types of physiotherapy. Aquatic therapy promotes muscular development and coordination.[26] With manual therapy, the joint will be gently mobilized within the range of motion and/or manipulations.[23][25] Electrotherapy like transcutaneous electrical nerve stimulation reduces local muskuloskeletal pain.[23][25] If conservative therapy is not helpful, surgical repair of joints may be necessary at some time. Medication to decrease pain or manage cardiac, digestive, or other related conditions may be prescribed. To decrease bruising and improve wound healing, some patients have responded to ascorbic acid (vitamin C).[27] Special precautions are often taken by medical care workers because of the sheer amount of complications that tend to arise in EDS patients. In Vascular EDS, signs of chest or abdominal pain are to be considered trauma situations.

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. Patients may find it hard to cope with the drawbacks of the disease. In this case emotional support and behavioral and psychological therapy can be useful. Support groups are found to be immensely helpful for patients dealing with major lifestyle changes and poor health. Family members, teachers and friends should be provided with information about EDS so they can accept and assist the child as necessary. Despite all these different types of conservative therapy, except bracing, results show that conservative therapy is ineffective in contrast to midcarpal instability in normal patients. L. Rombaut showed that in almost 40% of the cases, conservative therapy has a neutral or even a negative outcome.[23] Thereby has to be noted that conservative therapy may be unsuccessful in controlling instability in the longer term.[28]

Surgery

The instability of joints, leading to (sub)luxations and joint pain, often require surgical intervention in patients with Ehlers-Danlos Syndrome. Instability of almost all joints can happen, but appear most often in the lower and upper extremities, with the wrist, fingers, shoulder, knee, hip, and ankle being most common.[23]

Common surgical procedures are joint debridement, tendon replacements, capsulorraphy and arthroplasty. Studies have shown that after surgery, degree of stabilization, pain reduction, and patient satisfaction can improve, but surgery does not guarantee an optimal result and both patients and surgeons report being dissatisfied with the results. Consensus is that conservative treatment is more effective than surgery,[14] particularly since patients with Ehlers-Danlos Syndrome have extra risks of surgical complications due to the disease. Three basic surgical problems arise due to EDS: the strength of the tissues is decreased, which makes the tissue less suitable for surgery; the fragilty of the bloodvessels can cause problems during surgery; and wound healing is often delayed or incomplete.[23]

Studies have shown that local anesthetics, arterial catheters and central venous catheters cause a higher risk in haematoma formation in patients with Ehlers-Danlos Syndrome. Ehlers-Danlos patients also show a resistance to local anasthaetics.[29]

Surgery with Ehlers-Danlos patients requires careful tissue handling and a longer immobilization afterwards. Because local anasthetics have less effect, k-wires often can’t be removed afterwards and should not be used.[citation needed]

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, chronic musculoskeletal pain, degenerative joint disease, frequent injuries, and spinal deformities may limit a person’s mobility. Severe spinal deformities may affect breathing. In the case of extreme joint instability, dislocations may result from simple tasks such as rolling over in bed or turning a doorknob. Secondary conditions such as autonomic dysfunction or cardiovascular problems, occurring in any type, can affect prognosis and quality of life. Severe mobility-related disability is seen more often in Hypermobility-type than in Classical-type or Vascular-type.

Although all types are potentially life-threatening, the majority of individuals will have a normal lifespan. However, those with blood vessel fragility have a high risk of fatal complications. Arterial rupture is the most common cause of sudden death in EDS. Spontaneous arterial rupture most often occurs in the second or third decade, but can occur at any time. The average life-expectancy for Vascular EDS is 48 years.[30]

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.

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, chronic musculoskeletal pain, degenerative joint disease, frequent injuries, and spinal deformities may limit a person’s mobility. Severe spinal deformities may affect breathing. In the case of extreme joint instability, dislocations may result from simple tasks such as rolling over in bed or turning a doorknob. Secondary conditions such as autonomic dysfunction or cardiovascular problems, occurring in any type, can affect prognosis and quality of life. Severe mobility-related disability is seen more often in Hypermobility-type than in Classical-type or Vascular-type.

Although all types are potentially life-threatening, the majority of individuals will have a normal lifespan. However, those with blood vessel fragility have a high risk of fatal complications. Arterial rupture is the most common cause of sudden death in EDS. Spontaneous arterial rupture most often occurs in the second or third decade, but can occur at any time. The average life-expectancy for Vascular EDS is 48 years.[30]

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.

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