Systemic sclerosis Health Dictionary

A chronic, usually progressive disease of the central nervous system, with the gradual patchy disorganization of the protective myelin cells. It is almost certainly an auto-immune disorder, although viral infections sometimes seem to initiate the condition, and physical trauma is often seen to anomalously precede the first symptoms.... multiple sclerosis

This term means literally hardening, and is applied to conditions in which portions of organs harden and lose their function as the result of an excessive production of CONNECTIVE TISSUE. The term is especially applied to a change of this type taking place in the nervous system. (See MULTIPLE SCLEROSIS (MS)).... sclerosis

Involving the whole body or organism, and not just individual parts.... systemic

Also called epiloia: a rare inherited disease transmitted as an autosomal dominant trait. EPILEPSY in childhood is often the ?rst manifestation (see INFANTILE SPASMS), although ovoid hypopigmented macules (‘ash leaf patches’) in the skin may be detected in infancy. Later an ACNE-like eruption of the face (adenoma sebaceum), ?brous outgrowths around the nails and ?brous plaques on the lower back (shagreen patch) can all occur. Half of those affected have learning diffculties and behaviour problems, and autistic symptoms may occur (see AUTISM).

Characteristic white streaks appear on the optic fundi (see EYE). Molecular genetic testing can identify up to 90 per cent of individuals with a tuberin gene. Genetic counselling of families is helpful. Relatives of those with this condition can obtain help and guidance from the Tuberous Sclerosis Association of Great Britain.... tuberous sclerosis

See MULTIPLE SCLEROSIS (MS).... disseminated sclerosis

See separate dictionary entry.... systemic lupus erythematosus (sle)

Multiple sclerosis is a progressive disease of the BRAIN and SPINAL CORD, which, although slow in its onset, in time may produce marked symptoms such as PARALYSIS and tremors (see TREMOR), and may ultimately result in a severely disabled invalid. The disorder consists of hardened patches, from the size of a pin-head to that of a pea or larger, scattered here and there irregularly through the brain and spinal cord. Each patch is made up of a mass of the CONNECTIVE TISSUE (neuroglia), which should be present only in su?cient amount to bind the nerve-cells and ?bres together. In the earliest stage, the insulating sheaths (MYELIN) of the nerve-?bres in the hardened patches break up, are absorbed, and leave the nerve-?bres bare, the connective tissue being later formed between these.

Cause Although this is one of the most common diseases of the central nervous system in Europe – there are around 50,000 affected individuals in Britain alone – the cause is still not known. The disease comes on in young people (onset being rare after the age of 40), apparently without previous illness. The ratio of women-to-men victims is 3:2. It is more common in ?rst and second children than in those later in birth order, and in small rather than big families. There may be a hereditary factor for MS, which could be an autoimmune disorder: the body’s defence system attacks the myelin in the central nervous system as if it were a ‘foreign’ tissue.

Symptoms These depend greatly upon the part of the brain and cord affected by the sclerotic patches. Temporary paralysis of a limb, or of an eye muscle, causing double vision, and tremors upon exertion, ?rst in the affected parts, and later in all parts of the body, are early symptoms. Sti?ness of the lower limbs causing the toes to catch on small irregularities in the ground and trip the person in walking, is often an annoying symptom and one of the ?rst to be noticed. Great activity is shown in the re?ex movements obtained by striking the tendons and by stroking the soles of the feet. The latter re?ex shows a characteristic sign (Babinski sign) in which the great toe bends upwards and the other toes spread apart as the sole is stroked, instead of the toes collectively bending downwards as in the normal person. Tremor of the eye movements (nystagmus) is usually found. Trembling handwriting, interference with the functions of the bladder, giddiness, and a peculiar ‘staccato’ or ‘scanning’ speech are common symptoms at a later stage. Numbness and tingling in the extremities occur commonly, particularly in the early stages of the disease. As the disease progresses, the paralyses, which were transitory at ?rst, now become con?rmed, often with great rigidity in the limbs. In many patients the disease progresses very slowly.

People with multiple sclerosis, and their relatives, can obtain help and guidance from the Multiple Sclerosis Society. Another helpful organisation is the Multiple Sclerosis Resources Centre. Those with sexual or marital problems arising out of the illness can obtain information from SPOD (Association to Aid the Sexual and Personal Relationships of People with a Disability). (See APPENDIX 2: ADDRESSES: SOURCES OF INFORMATION, ADVICE, SUPPORT AND SELFHELP.)

Treatment is di?cult, because the most that can be done is to lead a life as free from strain as possible, to check the progress of the disease. The use of INTERFERON beta seems to slow the progress of MS and this drug is licensed for use in the UK for patients with relapsing, remitting MS over two years, provided they can walk unaided – a controversial restriction on this (expensive) treatment. CORTICOSTEROIDS may be of help to some patients.

The NATIONAL INSTITUTE FOR CLINICAL EXCELLENCE (NICE) ruled in 2001 that the use of the drugs interferon beta and glatiramer acetate for patients with multiple sclerosis was not cost-e?ective but recommended that the Department of Health, the National Assembly for Wales and the drug manufacturers should consider ways of making the drugs available in a cost-e?ective way. Subsequently the government said that it would consider funding a ‘risk-sharing’ scheme in which supply of drugs to patients would be funded only if treatment trials in individuals with MS showed that they were e?ective.

The Department of Health has asked NICE to assess two CANNABIS derivatives as possible treatments for multiple sclerosis and the relief of post-operative pain. Trials of an under-thetongue spray and a tablet could, if successsful, lead to the two drugs being available around 2005.

It is important to keep the nerves and muscles functioning, and therefore the patient should remain at work as long as he or she is capable of doing it, and in any case should exercise regularly.... multiple sclerosis (ms)

See motor neuron disease.... amyotrophic lateral sclerosis

See lupus erythematosus.... systemic lupus erythematosus

the system of blood vessels that supplies all parts of the body except the lungs. It consists of the aorta and all its branches, carrying oxygenated blood to the tissues, and all the veins draining deoxygenated blood into the vena cava. Compare pulmonary circulation.... systemic circulation

see shock.... systemic inflammatory response

(NSF, nephrogenic fibrosing dermopathy) a rare condition, first reported in 1997, that occurs exclusively in patients with chronic kidney disease (CKD), who develop large areas of hardened skin with fibrotic nodules and plaques. Flexion contractures with an accompanying limitation of range of motion can also occur. Exposure to gadolinium, used as a contrast agent in magnetic resonance imaging, has been identified as a causative factor, but many patients with severe CKD have been exposed to gadolinium without consequence. Linear gadolinium preparations (Omniscan, OptiMARK) appear to carry the highest risk of NSF. There is no cure for the condition.... nephrogenic systemic fibrosis