, Juraj Payer2 and Manfred Herold3
(1)
National Institute for Rheumatic Diseases, Piestany, Slovakia
(2)
Fifth Department of Internal Medicine, Comenius University University Hospital, Bratislava, Slovakia
(3)
Department of Internal Medicine VI, Medical University of Innsbruck, Innsbruck, Austria
Early T-lymphocyte activator 1 – see Osteopontin (OPN).
Ehlers–Danlos’ syndrome (EDS) A group of hereditary connective tissue disorders, characterised by hyperelasticity and fragility of the skin and hypermobility of the joints. Various forms differ by their clinical picture and genetic background. In individual patients, EDS has a very diverse and variable disease severity leading to a highly variable clinical picture. The frequency of EDS is 1:5000 live-born in both genders and all ethnic groups.
► Clinical symptoms and signs
The hyperelastic skin can be folded and distended up to several centimetres. After the release, it returns to its original state. Even mild trauma of the skin usually leads to superficial lacerations. Metacarpophalangeal joints and other parts of the body where the bones protrude clearly under the skin are often covered by scars. There is a tendency towards the development of haematomas and pigmentation of the scars. Grape-like swellings, referred to as molluscoid pseudotumors, may occur in these regions. On the calves and forearms, small, hard mobile subcutaneous nodules may be detected on palpation. To a varying degree, there is joint laxity and excessive movements of the joints, and orthopaedic complications are common especially in people with extreme hypermobility. Dermatological, cardiovascular, gastrointestinal, neurological, ophthalmological, urological, respiratory and dental abnormalities may also occur. Dissection of the aorta, rupturing of major arteries, gastrointestinal bleeding and perforations (see below) have all been documented as complications of vascular EDS.
The fragility of tissues and the tendency towards bleeding can complicate surgical procedures and labour. These problems can be minimised by accurate diagnosis of EDS forms.
Eiselsberg’s phenomenon – see Acute shoulder pain.
Electromyography (EMG) A recording of the electric potentials from striated muscles. The potentials are recorded with surface electrodes, or more accurately by direct needling. The potentials are amplified by the EMG device and displayed on a screen. EMG is used in the diagnosis of peripheral motor neurone lesions. In rheumatology, it is used in the diagnosis of tunnel syndromes and myopathies, such as myositis, where the potentials are narrower, have smaller amplitude and are polyphasic. In myopathic syndromes, the potentials are narrower and smaller, but the velocity is normal. In myasthenia gravis, the amplitude and frequency of the potentials decrease with repeated voluntary contractions.
Electrotherapy The use of various forms of electrical energy in the treatment of diseases, mainly by physiotherapists. A direct current, variously shaped alternating current impulses of low and middle frequencies, high-frequency field and high-frequency ultrasound and laser and transcutaneous nerve stimulation can all be used. Electrotherapy has analgesic, myorelaxing and vasodilatatory effects, as well as stimulating local and general metabolism. Electrical energy is also used in electrodiagnostics.
ELISA (Enzyme-Linked ImmunoSorbent Assay) ELISA is a two-step biochemical technique used mainly in immunology to quantify the level of an antibody or an antigen in a sample. The antigen is immobilised on a solid support (usually a polystyrene microtitre plate) either non-specifically (via adsorption to the surface) or specifically (via capture by another antibody specific to the same antigen, in a ‘sandwich’ ELISA). The sample (usually serum) is added and incubated allowing the formation of antigen–antibody immune complexes. A secondary antibody, which is linked to an enzyme through bioconjugation, is then added to link onto the primary antibody or to the antigen–antibody complex (sandwich principle) to determine its level. Between each step, the plate is typically washed with a mild detergent solution to remove any proteins or antibodies that are not specifically bound. After the final wash step, the plate is developed by adding an enzymatic substrate to produce a visible signal, which indicates the quantity of bound secondary antibody and indirectly the amount of antigen in the sample. Older ELISAs utilise chromogenic substrates, though newer assays employ fluorogenic substrates with much higher sensitivity. This is now a universal, efficient and automated technique employed in modern laboratories for detecting serum antibody levels.
Enbrel Trade name of etanercept.
Enteropathic arthritis (EA) Defined as arthritis induced by an intestinal disorder (ulcerative colitis, Crohn’s disease), or as arthritis occurring concomitantly with the intestinal disorder. These are acute, recurrent oligo- or polyarthritis often following the inflammatory activity of the enteric disorder.
► Clinical symptoms and signs
Peripheral arthritis, usually oligoarticular, asymmetric, with predilection the lower limb joints
Frequent involvement of the axial skeleton in terms of sacroiliitis and/or spondylitis
Dactylitis (in post-enteric reactive arthritis)
Enthesitis
Involvement of the skin and mucous membranes: iritis, erythema nodosum, pyoderma gangrenosum and other ocular involvements
Eosinophilic fasciitis (Shulman’s syndrome) A disorder characterised by the sudden onset of painful swelling replaced later by a stiffness of the skin and dermis of the trunk and limbs. This condition is caused by inflammatory, fibrotic and sclerotic changes in the fascia of the adjacent muscle, fibrous septa of the subcutaneous adipose tissue lobules or the deep dermis. The clinical picture is expressed by an orange peel appearance and rough surface to the affected skin. The uneven surface is caused by retraction of the adipose tissue septa. There may also be subcutaneous induration fixed to the deep tissues. In addition, there may be arthralgias, arthritis, joint contractures, tunnel compression syndromes, involvement of striated muscles and occasionally interstitial pulmonary fibrosis and dismotility of the oesophagus.
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