Porphyrias Health Dictionary

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Porphyrias: From 1 Different Sources

A group of rare inherited ENZYME diseases in which disorders of the metabolic pathways leading to the synthesis of HAEM cause excessive production of haem precursors called PORPHYRINS by the bone marrow or liver. The excess porphyrins in the blood mainly affect the skin, causing PHOTOSENSITIVITY, or the central nervous system, causing various neuro-psychiatric disorders. Excess porphyrins can be detected in blood, urine and faeces. Usually porphyrias are genetically determined, but one form is due to alcoholic liver disease. The commonest form, porphyria cutanea tarda, affects up to 1 in 5,000 people in some countries. The British king, George III, suffered from porphyria, a disorder unrecognised in the 18th century.
Health Source: Medical Dictionary
Author: Health Dictionary

Contraception

A means of avoiding pregnancy despite sexual activity. There is no ideal contraceptive, and the choice of method depends on balancing considerations of safety, e?ectiveness and acceptability. The best choice for any couple will depend on their ages and personal circumstances and may well vary with time. Contraceptive techniques can be classi?ed in various ways, but one of the most useful is into ‘barrier’ and ‘non-barrier’ methods.

Barrier methods These involve a physical barrier which prevents sperm (see SPERMATOZOON) from reaching the cervix (see CERVIX UTERI). Barrier methods reduce the risk of spreading sexually transmitted diseases, and the sheath is the best protection against HIV infection (see AIDS/HIV) for sexually active people. The e?ciency of barrier methods is improved if they are used in conjunction with a spermicidal foam or jelly, but care is needed to ensure that the preparation chosen does not damage the rubber barrier or cause an allergic reaction in the users. CONDOM OR SHEATH This is the most commonly used barrier contraceptive. It consists of a rubber sheath which is placed over the erect penis before intromission and removed after ejaculation. The failure rate, if properly used, is about 4 per cent. DIAPHRAGM OR CAP A rubber dome that is inserted into the vagina before intercourse and ?ts snugly over the cervix. It should be used with an appropriate spermicide and is removed six hours after intercourse. A woman must be measured to ensure that she is supplied with the correct size of diaphragm, and the ?t should be checked annually or after more than about 7 lbs. change in weight. The failure rate, if properly used, is about 2 per cent.

Non-barrier methods These do not provide a physical barrier between sperm and cervix and so do not protect against sexually transmitted diseases, including HIV. COITUS INTERRUPTUS This involves the man’s withdrawing his penis from the vagina before ejaculation. Because some sperm may leak before full ejaculation, the method is not very reliable. SAFE PERIOD This involves avoiding intercourse around the time when the woman ovulates and is at risk of pregnancy. The safe times can be predicted using temperature charts to identify the rise in temperature before ovulation, or by careful assessment of the quality of the cervical mucus. This method works best if the woman has regular menstrual cycles. If used carefully it can be very e?ective but requires a highly disciplined couple to succeed. It is approved by the Catholic church.

SPERMICIDAL GELS, CREAMS, PESSARIES, ETC.

These are supposed to prevent pregnancy by killing sperm before they reach the cervix, but they are unreliable and should be used only in conjunction with a barrier method.

INTRAUTERINE CONTRACEPTIVE DEVICE (COIL) This is a small metal or plastic shape, placed inside the uterus, which prevents pregnancy by disrupting implantation. Some people regard it as a form of abortion, so it is not acceptable to all religious groups. There is a risk of pelvic infection and eventual infertility in women who have used coils, and in many countries their use has declined substantially. Coils must be inserted by a specially trained health worker, but once in place they permit intercourse at any time with no prior planning. Increased pain and bleeding may be caused during menstruation. If severe, such symptoms may indicate that the coil is incorrectly sited, and that its position should be checked. HORMONAL METHODS Steroid hormones have dominated contraceptive developments during the past 40 years, with more than 200 million women worldwide taking or having taken ‘the pill’. In the past 20 years, new developments have included modifying existing methods and devising more e?ective ways of delivering the drugs, such as implants and hormone-releasing devices in the uterus. Established hormonal contraception includes the combined oestrogen and progesterone and progesterone-only contraceptive pills, as well as longer-acting depot preparations. They modify the woman’s hormonal environment and prevent pregnancy by disrupting various stages of the menstrual cycle, especially ovulation. The combined oestrogen and progesterone pills are very e?ective and are the most popular form of contraception. Biphasic and triphasic pills contain di?erent quantities of oestrogen and progesterone taken in two or three phases of the menstrual cycle. A wide range of preparations is available and the British National Formulary contains details of the commonly used varieties.

The main side-e?ect is an increased risk of cardiovascular disease. The lowest possible dose of oestrogen should be used, and many preparations are phasic, with the dose of oestrogen varying with the time of the cycle. The progesterone-only, or ‘mini’, pill does not contain any oestrogen and must be taken at the same time every day. It is not as e?ective as the combined pill, but failure rates of less than 1-per-100 woman years can be achieved. It has few serious side-effects, but may cause menstrual irregularities. It is suitable for use by mothers who are breast feeding.

Depot preparations include intramuscular injections, subcutaneous implants, and intravaginal rings. They are useful in cases where the woman cannot be relied on to take a pill regularly but needs e?ective contraception. Their main side-e?ect is their prolonged action, which means that users cannot suddenly decide that they would like to become pregnant. Skin patches containing a contraceptive that is absorbed through the skin have recently been launched.

HORMONAL CONTRACEPTION FOR MEN There is a growing demand by men worldwide for hormonal contraception. Development of a ‘male pill’, however, has been slow because of the potentially dangerous side-effects of using high doses of TESTOSTERONE (the male hormone) to suppress spermatogenesis. Progress in research to develop a suitable ANDROGEN-based combination product is promising, including the possibility of long-term STEROID implants. STERILISATION See also STERILISATION – Reproductive sterilisation. The operation is easier and safer to perform on men than on women. Although sterilisation can sometimes be reversed, this cannot be guaranteed and couples should be counselled in advance that the method is irreversible. There is a small but definite failure rate with sterilisation, and this should also be made clear before the operation is performed. POSTCOITAL CONTRACEPTION Also known as emergency contraception or the ‘morning after pill’, postcoital contraception can be e?ected by two di?erent hormonal methods. Levonorgesterol (a synthetic hormone similar to the natural female sex hormone PROGESTERONE) can be used alone, with one pill being taken within 72 hours of unprotected intercourse, but preferably as soon as possible, and a second one 12 hours after the ?rst. Alternatively, a combined preparation comprising ETHINYLESTRADIOL and levonorgesterol can be taken, also within 72 hours of unprotected intercourse. The single constituent pill has fewer side-effects than the combined version. Neither version should be taken by women with severe liver disease or acute PORPHYRIAS, but the ethinylestradiol/levonorgesterol combination is unsuitable for women with a history of THROMBOSIS.

In the UK the law allows women over the age of 16 to buy the morning-after pill ‘over the counter’ from a registered pharmacist.... contraception

Hypoglycaemic Agents

These oral agents reduce the excessive amounts of GLUCOSE in the blood (HYPERGLYCAEMIA) in people with type 2 (INSULIN-resistant) diabetes (see DIABETES MELLITUS). Although the various drugs act di?erently, most depend on a supply of endogenous (secreted by the PANCREAS) insulin. Thus they are of no value in treating patients with type 1 diabetes (insulin-dependent diabetes mellitus (IDDM), in which the pancreas produces little or no insulin and the patient’s condition is stabilised using insulin injections). The traditional oral hypoglycaemic drugs have been the sulphonylureas and biguanides; new agents are now available – for example, thiazolidine-diones (insulin-enhancing agents) and alpha-glucosidase inhibitors, which delay the digestion of CARBOHYDRATE and the absorption of glucose. Hypoglycaemic agents should not be prescribed until diabetic patients have been shown not to respond adequately to at least three months’ restriction of energy and carbohydrate intake.

Sulphonylureas The main group of hypoglycaemic agents, these act on the beta cells to stimulate insulin release; consequently they are e?ective only when there is some residual pancreatic beta-cell activity (see INSULIN). They also act on peripheral tissues to increase sensitivity, although this is less important. All sulphonylureas may lead to HYPOGLYCAEMIA four hours or more after food, but this is relatively uncommon, and usually an indication of overdose.

There are several di?erent sulphonylureas; apart from some di?erences in their duration or action (and hence in their suitability for individual patients) there is little di?erence in their e?ectiveness. Only chlorpropamide has appreciably more side-effects – mainly because of its prolonged duration of action and consequent risk of hypoglycaemia. There is also the common and unpleasant chlorpropamide/ alcohol-?ush phenomenon when the patient takes alcohol. Selection of an individual sulphonylurea depends on the patient’s age and renal function, and often just on personal preference. Elderly patients are particularly prone to the risks of hypoglycaemia when long-acting drugs are used. In these patients chlorpropamide, and preferably glibenclamide, should be avoided and replaced by others such as gliclazide or tolbutamide.

These drugs may cause weight gain and are indicated only if poor control persists despite adequate attempts at dieting. They should not be used during breast feeding, and caution is necessary in the elderly and in those with renal or hepatic insu?ciency. They should also be avoided in porphyria (see PORPHYRIAS). During surgery and intercurrent illness (such as myocardial infarction, COMA, infection and trauma), insulin therapy should be temporarily substituted. Insulin is generally used during pregnancy and should be used in the presence of ketoacidosis.

Side-effects Chie?y gastrointestinal disturbances and headache; these are generally mild and infrequent. After drinking alcohol, chlorpropamide may cause facial ?ushing. It also may enhance the action of antidiuretic hormone (see VASOPRESSIN), very rarely causing HYPONATRAEMIA.

Sensitivity reactions are very rare, usually occurring in the ?rst six to eight weeks of therapy. They include transient rashes which rarely progress to erythema multiforme (see under ERYTHEMA) and exfoliate DERMATITIS, fever and jaundice; chlorpropamide may also occasionally result in photosensitivity. Rare blood disorders include THROMBOCYTOPENIA, AGRANULOCYTOSIS and aplastic ANAEMIA.

Biguanides Metformin, the only available member of this group, acts by reducing GLUCONEOGENESIS and by increasing peripheral utilisation of glucose. It can act only if there is some residual insulin activity, hence it is only of value in the treatment of non-insulin dependent (type 2) diabetics. It may be used alone or with a sulphonylurea, and is indicated when strict dieting and sulphonylurea treatment have failed to control the diabetes. It is particularly valuable in overweight patients, in whom it may be used ?rst. Metformin has several advantages: hypoglycaemia is not usually a problem; weight gain is uncommon; and plasma insulin levels are lowered. Gastrointestinal side-effects are initially common and persistent in some patients, especially when high doses are being taken. Lactic acidosis is a rarely seen hazard occurring in patients with renal impairment, in whom metformin should not be used.

Other antidiabetics Acarbose is an inhibitor of intestinal alpha glucosidases (enzymes that process GLUCOSIDES), delaying the digestion of starch and sucrose, and hence the increase in blood glucose concentrations after a meal containing carbohydrate. It has been introduced for the treatment of type 2 patients inadequately controlled by diet or diet with oral hypoglycaemics.

Guar gum, if taken in adequate doses, acts by delaying carbohydrate absorption, and therefore reducing the postprandial blood glucose levels. It is also used to relieve symptoms of the DUMPING SYNDROME.... hypoglycaemic agents

Photodermatosis

n. any of various skin diseases caused by exposure to light of varying wavelength (see photosensitivity). The facial prominences and the ‘V’ of the neck are most commonly affected, the shadow areas behind the ears and below the chin being protected. A common photodermatosis is polymorphous light eruption, which affects 10% of the population. It appears with the first sunshine of spring and abates by late summer. The photodermatoses include certain *porphyrias, notably porphyria cutanea tarda.... photodermatosis

Idiosyncrasy

A generally unexpected, so unpredictable, abnormal reaction to a drug caused by a constitutional defect in the patient. In some cases the underlying disorder is already known or discovered after the ?rst event, so that the drug in question can be avoided thereafter. The abnormal sensitivity of patients with PORPHYRIAS to BARBITURATES is an example. Hereditary biochemical defects of red blood cells are responsible for many drug-induced haemolytic anaemias (see under ANAEMIA) and for FAVISM. Porphyria variegata, the South African variety of porphyria, is an example of an inborn error of metabolism which was without serious symptoms until the advent of barbiturate drugs, prescription of which is now strongly discouraged. If anyone with this metabolic disorder takes barbiturates, the consequences may be fatal.... idiosyncrasy

Metabolic Disorders

A collection of disorders in which some part of the body’s internal chemistry (see METABOLISM; CATABOLISM) is disrupted. Some of these disorders arise from inherited de?ciencies in which a speci?c ENZYME is absent or abnormal, or does not function properly. Other metabolic disorders occur because of malfunctions in the endocrine system (see ENDOCRINE GLANDS). There may be over- or underproduction of a hormone involved in the control of metabolic activities: a prime example is DIABETES MELLITUS – a disorder of sugar metabolism; others include CUSHING’S SYNDROME; hypothyroidism and hyperthyroidism (see THYROID GLAND, DISEASES OF); and insulinoma (an insulin-producing tumour of the pancreas). The bones can be affected by metabolic disorders such as osteoporosis, osteomalacia (rickets) and Paget’s disease (see under BONE, DISORDERS OF). PORPHYRIAS, HYPERLIPIDAEMIA, HYPERCALCAEMIA and gout are other examples of disordered metabolism.

There are also more than 200 identi?ed disorders described as inborn errors of metabolism. Some cause few problems; others are serious threats to an individual’s life. Individual disorders are, fortunately, rare – probably one child in 10,000 or 100,000; overall these inborn errors affect around one child in 1,000. Examples include GALACTOSAEMIA, PHENYLKETONURIA, porphyrias, TAY SACHS DISEASE and varieties of mucopolysaccharidosis, HOMOCYSTINURIA and hereditary fructose (a type of sugar) intolerance.... metabolic disorders

Metoclopramide

This drug antagonises the actions of DOPAMINE. Given orally, intramuscularly, or intravenously, it is used to treat nausea and vomiting, particularly in gastrointestinal disorders, or when associated with cytotoxics or radiotherapy. It is useful in the early treatment of MIGRAINE.

Caution is indicated in prescribing metoclopramide for elderly and young patients, and whenever hepatic or renal impairment is present, and it should be avoided in pregnancy or cases of PORPHYRIAS. Adverse effects include extrapyramidal effects (see under EXTRAPYRAMIDAL SYSTEM) and HYPERPROLACTINAEMIA with occasional TARDIVE DYSKINESIA on prolonged administration. There have also been occasional reports of drowsiness, restlessness, diarrhoea, depression and neuroleptic malignant syndrome, with rare cardiac conduction abnormalities following intravenous administration.... metoclopramide

Photodermatoses

Diseases of the SKIN for which sunlight is partially or wholly responsible. In su?cient dosage, short-wave ultraviolet light (UVB – see ULTRAVIOLET RAYS (UVR)) always causes ERYTHEMA. Higher doses progressively cause OEDEMA and blistering; this is acute sunburn. Graduated exposure to UVB causes pigmentation (tanning). Prolonged chronic exposure to sunlight eventually accelerates ageing of the exposed skin with LENTIGO formation and loss of COLLAGEN and elastic tissue. After decades of such exposure, epidermal DYSPLASIA and CANCER may supervene.

Drugs given orally or topically may induce phototoxic reactions of various types. Thus, TETRACYCLINES exaggerate sunburn reactions. and the diuretic FRUSEMIDE may cause blistering reactions. Psoralens induce erythema and pigmentation. AMIODARONE also induces pigmentation. (See also PHOTOCHEMOTHERAPY.)

Phytophotodermatitis is a streaky, blistering photodermatosis typically seen on the limbs of children playing in grassy meadows in summer. The phototoxic reaction is caused by psoralens in weeds.

Berlocque dermatitis is a pattern of streaky pigmentation usually seen on women’s necks, caused by a reaction to psoralens in perfumes.

Certain rare metabolic diseases may lead to photosensitisation. They include the PORPHYRIAS and PELLAGRA. Other skin diseases such as lupus erythematosus (see under LUPUS) and ROSACEA may be aggravated by light exposure. Sometimes, in the absence of any of these factors, some people spontaneously develop a sensitivity to light causing various patterns of DERMATITIS or URTICARIA. The most common pattern is ‘polymorphic light eruption’ which typically appears within a day or two of arrival at a sunny holiday destination and persists until departure. Continuously exposed areas, such as the hands and face, may be ‘hardened’ and unaffected.

Treatment Appropriate clothing and headgear, sunscreen creams and lotions are the main preventative measures.... photodermatoses

Rifampicin

An antibiotic derived from Streptomyces mediterranei, rifampicin is a key component of the treatment of TUBERCULOSIS. Like ISONIAZID, it should always be included unless there is a speci?c contraindication. It is also valuable in the treatment of BRUCELLOSIS, LEGIONNAIRE’S DISEASE, serious staphylococcal (see STAPHYLOCOCCUS) infections and LEPROSY. It is also given to contacts of certain forms of childhood MENINGITIS.

Rifampicin is given by mouth; during the ?rst two months it often causes transient disturbance of LIVER function, with raised concentrations of serum transaminases, but usually treatment need not be interrupted. In patients with pre-existing liver disease more severe toxicity may occur, and liver function should be carefully monitored both before starting and during rifampicin treatment. It induces hepatic enzymes which accelerate the metabolism of various drugs including ANTICOAGULANTS, SULPHONYLUREAS, PHENYTOIN SODIUM, CORTICOSTEROIDS and OESTROGENS. The e?ectiveness of oral contraceptives is reduced and alternative family-planning advice should be o?ered.

Rifampicin should be avoided during pregnancy and breast feeding, and extra caution should be applied if there is renal impairment, JAUNDICE or PORPHYRIAS. Adverse effects include gastrointestinal symptoms, in?uenza-like symptoms, collapse and SHOCK, haemolytic ANAEMIA, acute ?ushing and URTICARIA; body secretions may be coloured red.... rifampicin

Skin, Diseases Of

They may be local to the SKIN, or a manifestation of systemic disorders – inherited or acquired. Some major types are described below.

Others appear under their appropriate alphabetical headings: ACNE; ALBINISM; ALOPECIA; ALOPECIA AREATA; APHTHOUS ULCER; BASAL CELL CARCINOMA; BOILS (FURUNCULOSIS); BOWEN’S DISEASE; CALLOSITIES; CANDIDA; CHEILOSIS; CHEIRAPOMPHOLYX; DANDRUFF; DERMATOFIBROMA; DERMATOMYOSITIS; DERMATOPHYTES; DERMOGRAPHISM; ECTHYMA; ERYSIPELAS; ERYTHEMA; ERYTHRASMA; ERYTHRODERMA; ESCHAR; EXANTHEM; FUNGAL AND YEAST INFECTIONS; HAND, FOOT AND MOUTH DISEASE; HERPES GENITALIS; HERPES SIMPLEX; HERPES ZOSTER; IMPETIGO; INTERTRIGO; KELOID; KERATOSIS; LARVA MIGRANS; LICHEN; LUPUS; MADURA FOOT; MELANOMA; MILIARIA; MOLLUSCUM CONTAGIOSUM; MOLE; MYCOSIS FUNGOIDES; NAEVUS; ORF; PEDICULOSIS; PEMPHIGUS; PHOTOCHEMOTHERAPY; PHOTODERMATOSES; PITYRIASIS; PORPHYRIAS; PRURITUS; PSORIASIS; RINGWORM; ROSACEA; SARCOIDOSIS; SCABIES; SCLERODERMA; URTICARIA; VITILIGO; WARTS; XANTHOMATA.

Skin cancer Primary cancer is common and chronic exposure to ultraviolet light is the most important cause. BASAL CELL CARCINOMA is the most common form; squamous cell carcinoma is less common and presents as a growing, usually painless nodule which may ulcerate. Squamous cancer may spread to regional lymph glands and metastasise, unlike basal cell cancer. Occupational exposure to chemical carcinogens may cause squamous carcinoma – for example, cancer from pitch warts or the scrotal carcinoma of chimney sweeps exposed to coal dust in earlier centuries. Squamous carcinoma of the lip is associated with clay-pipe smoking.

Cancer may arise from the population of melanocytes of the skin (see MELANOCYTE; MELANOMA).

Apart from these three most frequent forms of skin cancer, various forms of cancer can arise from cells of the dermis, of which LYMPHOMA is the most important (see also MYCOSIS FUNGOIDES).

Lastly, secondary deposits from internal cancer, particularly from the breast, may metastasise to the skin.

Dermatitis and eczema These are broadly synonymous, and the terms are frequently interchangeable. Eczema is a pattern of in?ammation with many potential causes. Dermatitis is commonly used to suggest an eczema caused by external factors; it is a common pattern of in?ammation of the skin characterised by redness and swelling, vesiculation (see VESICLE), and scaling with intense itching and often exudation (weeping). Fissuring, thickening (licheni?cation – see LICHEN) and secondary bacterial infection may follow. Dermatitis can affect any part of the body. It may be genetically detemined or due to other ‘internal’ factors, such as venous HYPERTENSION in a leg, or stress. Often it is ‘external’ in origin – due to strong irritants or chemical allergens. (See also ALLERGY; ALLERGEN.) ATOPIC DERMATITIS is genetic in origin and usually begins in infancy. It may persist for years, and ASTHMA, allergic RHINITIS and conjunctivitis (see under EYE, DISORDERS OF) – ‘hay fever’ – may be associated. Atopic children tend to have multiple allergies, especially to inhaled allergens such as house-dust mite, cat and dog dander and pollens. Allergy to foods is less common but potentially more dangerous, especially if to nuts, when it can cause acute URTICARIA or even ANAPHYLAXIS. Atopic subjects are particularly prone to persistent and multiple verrucae (see WARTS) and mollusca (see MOLLUSCUM CONTAGIOSUM) and to severe HERPES SIMPLEX infections. (See also ATOPY.)

EXFOLIATE DERMATITIS (PITYRIASIS RUBRA)

Generalised exfoliation and scaling of the skin, commonly with ERYTHEMA. Drugs may cause it, or the disorder may be linked with other skin diseases such as benign dermatoses and lupus erythematosus (see under LUPUS). SUMMER POMPHOLYX is an acute vesicular eczema of the palms and soles recurring every summer. Inhaled allergens are a frequent cause. VENOUS (STASIS) DERMATITIS begins on a lower calf, often in association with PURPURA, swelling and sometimes ulceration. Chronic venous hypertension in the leg, consequent on valvular incompetence in the deep leg veins owing to previous deep vein thrombosis (see VEINS, DISEASES OF), is the usual cause. NEURODERMATITIS A pattern of well-de?ned plaques of licheni?ed eczema particularly seen on the neck, ulnar forearms or sides of the calves in subjects under emotional stress. IRRITANT CONTACT DERMATITIS Most often seen in an industrial setting (occupational dermatitis), it is due to damage by strong chemicals such as cutting oils, cement, detergents and solvents. In almost all cases the hands are most severely affected. ALLERGIC CONTACT DERMATITIS, in contrast, can affect any part of the body depending on the cause – for example, the face (cosmetics), hands (plants, occupational allergens) or soles (rubber boots). Particularly common allergens include metals (nickel and chromate), rubber addititives, and adhesives (epoxy resins).

Treatment Avoidance of irritants and contact allergens, liberal use of EMOLLIENTS, and topical application of corticosteroid creams and ointments (see CORTICOSTEROIDS) are central.... skin, diseases of

Haemoglobin

The oxygen-carrying pigment that is present in red blood cells. Haemoglobin molecules, which are produced by bone marrow, are made up of 4 protein chains (2 alpha- and 2 betaglobin) and 4 haem (a red pigment that contains iron).

Oxygen from the lungs enters red blood cells in the bloodstream. The oxygen then combines chemically with the haem within the haemoglobin to form oxyhaemoglobin, which gives blood in the arteries its distinctive bright red colour and is carried around the body. In areas that need oxygen, the oxyhaemoglobin releases its oxygen and reverts to haemoglobin, giving blood in the veins its distinctive darker colour.Some defects in haemoglobin production result from a genetic disorder; such defects are subdivided into errors of haem production, known as porphyrias, and those of globin production, known as haemoglobinopathies. Other defects, such as some types of anaemia, have a nongenetic cause.... haemoglobin


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