Haemochromatosis Health Dictionary

The cause of Addison’s disease (also called chronic adrenal insu?ciency and hypocortisolism) is a de?ciency of the adrenocortical hormones CORTISOL, ALDOSTERONE and androgens (see ANDROGEN) due to destruction of the adrenal cortex (see ADRENAL GLANDS). It occurs in about 1 in 25,000 of the population. In the past, destruction of the adrenal cortex was due to TUBERCULOSIS (TB), but nowadays fewer than 20 per cent of patients have TB while 70 per cent suffer from autoimmune damage. Rare causes of Addison’s disease include metastases (see METASTASIS) from CARCINOMA, usually of the bronchus; granulomata (see GRANULOMA); and HAEMOCHROMATOSIS. It can also occur as a result of surgery for cancer of the PITUITARY GLAND destroying the cells which produce ACTH (ADRENOCORTICOTROPHIC HORMONE)

– the hormone which provokes the adrenal cortex into action.

Symptoms The clinical symptoms appear slowly and depend upon the severity of the underlying disease process. The patient usually complains of appetite and weight loss, nausea, weakness and fatigue. The skin becomes pigmented due to the increased production of ACTH. Faintness, especially on standing, is due to postural HYPOTENSION secondary to aldosterone de?ciency. Women lose their axillary hair and both sexes are liable to develop mental symptoms such as DEPRESSION. Acute episodes – Addisonian crises – may occur, brought on by infection, injury or other stressful events; they are caused by a fall in aldosterone levels, leading to abnormal loss of sodium and water via the kidneys, dehydration, low blood pressure and confusion. Patients may develop increased tanning of the skin from extra pigmentation, with black or blue discoloration of the skin, lips, mouth, rectum and vagina occurring. ANOREXIA, nausea and vomiting are common and the sufferer may feel cold.

Diagnosis This depends on demonstrating impaired serum levels of cortisol and inability of these levels to rise after an injection of ACTH.

Treatment consists in replacement of the de?cient hormones. HYDROCORTISONE tablets are commonly used; some patients also require the salt-retaining hormone, ?udrocortisone. Treatment enables them to lead a completely normal life and to enjoy a normal life expectancy. Before surgery, or if the patient is pregnant and unable to take tablets, injectable hydrocortisone may be needed. Rarely, treated patients may have a crisis, perhaps because they have not been taking their medication or have been vomiting it. Emergency resuscitation is needed with ?uids, salt and sugar. Because of this, all patients should carry a card detailing their condition and necessary management. Treatment of any complicating infections such as tuberculosis is essential. Sometimes DIABETES MELLITUS coexists with Addison’s disease and must be treated.

Secondary adrenal insu?ciency may occur in panhypopituitarism (see PITUITARY GLAND), in patients treated with CORTICOSTEROIDS or after such patients have stopped treatment.... addison’s disease

A condition of the liver arising from long-term damage to its cells. In cirrhosis, bands of fibrosis (internal scarring) develop, leaving nodules of regenerating cells that are inadequately supplied with blood. Liver function is gradually impaired; the liver no longer effectively removes toxic substances from the blood (see liver failure). The distortion and fibrosis also lead to portal hypertension. The most common cause of cirrhosis is heavy alcohol consumption. Other causes include forms of hepatitis and, more rarely, disorders of the bile ducts, haemochromatosis, Wilson’s disease, cystic fibrosis, and heart failure.

Cirrhosis may go unrecognized until symptoms such as mild jaundice, oedema, and vomiting of blood develop. There may be enlargement of the liver and spleen and, in men, enlargement of the breasts and loss of body hair due to an imbalance in sex hormones caused by liver failure. Complications of cirrhosis include ascites, oesophageal varices, and hepatoma. Treatment is focused on slowing the rate at which liver cells are being damaged, if possible by treating the cause. In some cases, however, the condition progresses and a liver transplant may be considered.... cirrhosis

Another name for haemochromatosis, a rare genetic disease in which excessive amounts of iron are deposited in tissues.

It causes a bronze skin coloration, and sufferers often develop diabetes mellitus.... diabetes, bronze

Inflammation of the liver persisting for a prolonged period. Eventually, scar tissue forms and liver cirrhosis may develop.Chronic hepatitis may develop following an attack of acute hepatitis (see hepatitis, acute). It may also occur as the result of an autoimmune disorder, a viral infection (see hepatitis, viral), a reaction to certain types of drugs or, more rarely, to a metabolic disorder, such as haemochromatosis or Wilson’s disease.

Chronic hepatitis may cause slight tiredness or no symptoms at all.

It is diagnosed by liver biopsy.

Autoimmune hepatitis is treated with corticosteroid drugs and immunosuppressants.

Viral infections often respond to interferon.

In the drug-induced type, withdrawal of the medication can lead to recovery.

For metabolic disturbances, treatment depends on the underlying disorder.... hepatitis, chronic

A form of arthritis that results from the deposition of calcium pyrophosphate crystals in a joint.

The underlying cause is unknown; in rare cases, it is a complication of diabetes mellitus, hyperparathyroidism, and haemochromatosis.

Symptoms are similar to gout.

Diagnosis is from a sample of joint fluid.

Treatment is with nonsteroidal anti-inflammatory drugs (NSAIDs).... pseudogout

The process of withdrawing blood from a vein for blood donation or therapeutic bloodletting.

Regular bloodletting is performed in the treatment of polycythaemia and haemochromatosis.... venesection

see haemochromatosis.... bronze diabetes

n. the appearance of calcific material in joint cartilage, most commonly an incidental finding on X-ray of the knees in elderly patients and usually causing no symptoms. Calcification of cartilage may also be seen at the shoulder and in the fibrocartilage of the wrist. It may be associated with osteoarthritis. It is also seen less commonly in several other disorders, including Wilson’s disease, pseudogout, hyperparathyroidism, hypothyroidism, and haemochromatosis.... chondrocalcinosis

The LIVER may be extensively diseased without any obviously serious symptoms, unless the circulation through it is impeded, the out?ow of BILE checked, or neighbouring organs implicated. JAUNDICE is a symptom of several liver disorders, and is discussed under its separate heading. ASCITES, which may be caused by interference with the circulation through the portal vein of the liver, as well as by other reasons, is also considered separately. The presence of gallstones is a complication of some diseases connected with the liver, and is treated under GALLBLADDER, DISEASES OF. For hydatid cyst of the liver, see TAENIASIS. Liver diseases in a tropical environment are dealt with later in this section.

In?ammation of the liver, or HEPATITIS, may occur as part of a generalised infection or may be a localised condition. Infectious hepatitis, which is the result of infection with a virus, is one of the most common forms. Many di?erent viruses can cause hepatitis, including that responsible for glandular fever (see MONONUCLEOSIS). Certain spirochaetes may also be the cause, particularly that responsible for LEPTOSPIROSIS, as can many drugs. Hepatitis may also occur if there is obstruction of the BILE DUCT, as by a gall-stone.

Cirrhosis of the liver A disorder caused by chronic damage to liver cells. The liver develops areas of ?brosis or scarring; in response, the remaining normal liver cells increase and form regeneration nodules. Those islands of normality, however, suffer from inadequate blood supply, thus adversely affecting liver function. Alcohol is the most common cause of cirrhosis in the United Kingdom and the USA, and the incidence of the disorder among women in the UK has recently risen sharply as a consequence of greater consumption of alcohol by young women in the latter decades of the 20th century. In Africa and many parts of Asia, infection with hepatitis B virus is a common cause. Certain drugs – for example, PARACETAMOL – may damage the liver if taken in excess. Unusual causes of cirrhosis include defects of the bile ducts, HAEMOCHROMATOSIS (raised iron absorption from the gut), CYSTIC FIBROSIS, cardiac cirrhosis (the result of heart failure causing circulatory congestion in the liver), and WILSON’S DISEASE (raised copper absorption).

Symptoms Some people with cirrhosis have no signs or symptoms and the disease may be diagnosed at a routine medical examination. Others may develop jaundice, OEDEMA (including ascites – ?uid in the abdomen), fever, confusion, HAEMATEMESIS (vomiting blood), loss of appetite and lethargy. On examination, cirrhotic patients often have an enlarged liver and/ or SPLEEN, and HYPERTENSION. Liver function tests, cholangiography (X-ray examination of the bile ducts) and biopsy of liver tissue will help to reach a diagnosis.

Treatment Nothing can be done to repair a cirrhosed organ, but the cause, if known, must be removed and further advance of the process thus prevented. In the case of the liver, a high-protein, high-carbohydrate, low-fat diet is given, supplemented by liver extract and vitamins B and K. The consumption of alcohol should be banned. In patients with liver failure and a poor prognosis, liver TRANSPLANTATION is worthwhile but only after careful consideration.

Abscess of the liver When an ABSCESS develops in the liver, it is usually a result of amoebic DYSENTERY, appearing sometimes late in the disease – even after the diarrhoea is cured (see below). It may also follow upon in?ammation of the liver due to other causes. In the case of an amoebic abscess, treatment consists of oral metronidazole.

Acute hepatic necrosis is a destructive and often fatal disease of the liver which is very rare. It may be due to chemical poisons, such as carbontetrachloride, chloroform, phosphorus and industrial solvents derived from benzene. It may also be the cause of death in cases of poisoning with fungi. Very occasionally, it may be a complication of acute infectious hepatitis.

Cancer of the liver is not uncommon, although it is rare for the disease to begin in the liver – the involvement of this organ being usually secondary to disease situated somewhere in the stomach or bowels. Cancer originating in the liver is more common in Asia and Africa. It usually arises in a ?brotic (or cirrhotic) liver and in carriers of the hepatitis B virus. There is great emaciation, which increases as the disease progresses. The liver is much enlarged, and its margin and surface are rough, being studded with hard cancer masses of varying size, which can often be felt through the abdominal wall. Pain may be present. Jaundice and oedema often appear.... liver, diseases of

A mineral essential for the formation of certain enzymes, haemoglobin (the oxygen-carrying pigment in red blood cells), and myoglobin (the oxygen-carrying pigment in muscle cells). It is found in foods such as liver, cereals, fish, green leafy vegetables, nuts, and beans. During pregnancy, supplements may be needed. Iron deficiency leading to anaemia (see anaemia, iron deficiency) is usually caused by abnormal blood loss, such as from a peptic ulcer or heavy periods, but may also be due to diet.

Iron supplements may cause nausea, abdominal pain, constipation, or diarrhoea and may colour the faeces black.

Excessive iron in the tissues is a feature of haemochromatosis, which results in organ damage, commonly cirrhosis.... iron

n. a drug that combines with iron in body tissues and fluids and is used to treat iron poisoning, iron overload (including that resulting from prolonged or constant blood transfusion, as for thalassaemia), diseases involving iron storage in parts of the body (see haemochromatosis), and for the diagnosis of such diseases.... desferrioxamine

n. any disorder of metabolism causing excessive thirst and the production of large volumes of urine. Used alone, the term most commonly refers to *diabetes mellitus. See also diabetes insipidus; haemochromatosis (bronze diabetes). —diabetic adj., n.... diabetes

see haemochromatosis.... iron-storage disease

The liver is a common site of disease. The most significant liver conditions include alcohol-related disorders (see liver disease, alcoholic), hepatitis, and liver cancer. Disorders can also result from infection. Certain viruses cause hepatitis (see hepatitis, viral). Bacteria may spread up the biliary system to the liver, causing cholangitis or liver abscess. Parasitic diseases affecting the liver include schistosomiasis, liver fluke, and hydatid disease. Certain metabolic disorders, such as haemochromatosis and Wilson’s disease, may involve the liver. Other types of liver disorder include Budd–Chiari syndrome, in which the veins draining the liver become blocked. Occasionally, defects of liver structure are present at birth. Such defects principally affect the bile ducts; one example is biliary atresia, in which the bile ducts are absent. Because the liver breaks down drugs and toxins, damage to liver cells can also be caused through overdose or drug allergy. (See also jaundice; liver failure; portal hypertension.)... liver, disorders of

Inflammation of the pancreas, which may be acute or chronic. The main causes of acute pancreatitis are alcohol abuse and gallstones. Less common causes are injury, viral infections, surgery on the biliary system, or certain drugs. Chronic pancreatitis is usually due to alcohol abuse. Rarer causes include hyperlipidaemias, haemochromatosis, and severe acute pancreatitis. Chronic pancreatitis leads to permanent damage. Acute pancreatitis is less damaging but there may be recurrences.Symptoms of acute pancreatitis are a sudden attack of severe upper abdominal pain, which may spread to the back, often with nausea and vomiting. Movement often makes the pain worse. The attack usually lasts about 48 hours. Chronic pancreatitis usually has the same symptoms, although the pain may last from a few hours to several days, and attacks become more frequent. If there is no pain, the principal signs may be malabsorption or diabetes mellitus.

Severe acute pancreatitis may lead to hypotension, heart failure, kidney failure, respiratory failure, cysts, and ascites. Chronic pancreatitis may also lead to the development of ascites and cysts, as well as bile duct obstruction and diabetes mellitus.

A diagnosis may be made by blood tests, abdominal X-rays, ultrasound scanning, CT scanning, MRI, or ERCP. Acute pancreatitis is treated with intravenous infusion of fluids and salts and opioid analgesic drugs. In some cases, the gut may be washed out with sterile fluid, or a pancreatectomy may be performed and any gallstones that are present removed. Treatment for the chronic form is with painkillers, insulin, pancreatin, and, in some cases, pancreatectomy.... pancreatitis

Coloration of the skin, hair, and iris of the eyes by melanin. The more melanin present, the darker the coloration. Blood pigments can also colour skin (such as in a bruise).

There are many abnormalities of pigmentation.

Patches of pale skin occur in psoriasis, pityriasis alba, pityriasis versicolor, and vitiligo.

Albinism is caused by generalized melanin deficiency.

Phenylketonuria results in a reduced melanin level, making sufferers pale-skinned and fair-haired.

Areas of dark skin may be caused by disorders such as eczema or psoriasis, pityriasis versicolor, chloasma, or by some perfumes and cosmetics containing chemicals that cause photosensitivity.

Permanent areas of deep pigmentation, such as freckles and moles (see naevus), are usually due to an abnormality of melanocytes.

Acanthosis nigricans is characterized by dark patches of velvet-like, thickened skin.

Blood pigments may lead to abnormal colouring.

Excess of the bile pigment bilirubin in jaundice turns the skin yellow, and haemochromatosis turns the skin bronze.... pigmentation