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Addison's disease

Addison's disease (also known as chronic adrenal insufficiency, or hypocortisolism) is a rare endocrine disorder, first described by British physician Thomas Addison. more...

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It is estimated that it affects about 1 to 2 in 100,000 people.

It occurs when the adrenal glands, seated above the kidneys, fail to produce enough of the hormone cortisol and, sometimes, the hormone aldosterone.

Addison's disease refers specifically to primary adrenal insufficiency, in which the adrenal glands themselves malfunction; secondary adrenal insufficiency occurs when the pituitary gland does not produce enough adrenocorticotropic hormone (ACTH) to adequately stimulate the adrenal glands.

Signs and symptoms

Early signs

Addison's disease progresses slowly, and symptoms may not present or be noticed until some stressful illness or situation occurs. Common symptoms are:

  • chronic fatigue that gradually worsens
  • muscle weakness
  • loss of appetite
  • weight loss
  • nausea/vomiting
  • diarrhea
  • low blood pressure that falls further when standing (orthostatic hypotension)
  • areas of hyperpigmentation (darkened skin), known as melasma suprarenale.
  • irritability
  • depression
  • craving for salt and salty foods
  • hypoglycemia (worse in children)
  • for women, menstrual periods that become irregular or cease
  • tetany (particularly after drinking milk) due to phosphate excess
  • numbness of the extremities, sometimes with paralysis, due to potassium excess

Addisonian crisis

An illness or accident can aggravate the adrenal problems and cause an Addisonian crisis in which the symptoms include:

  • brown coating on tongue and teeth due to iron loss hemolysis
  • sudden penetrating pain in the legs, lower back or abdomen
  • severe vomiting and diarrhea, resulting in dehydration
  • low blood pressure
  • loss of consciousness
  • hypoglycemia

Untreated, an Addisonian crisis can be fatal. It is a medical emergency.

Diagnosis

In suspected cases of Addison's disease, one needs to demonstrate that adrenal hormone levels are low after appropriate stimulation with synthetic pituitary hormone.

Once demonstrated, the cause of adrenal failure needs to be elucidated. The most common cause is autoimmune, and can be tested for with an assay for 21-hydroxylase antibodies. If there are no antibodies present, infectious or genetic causes should be sought. This may include imaging of the adrenal glands, tests for tuberculosis or HIV infection, and searching for metastatic cancer.

Pathophysiology

Eighty to ninety percent of cases of Addison's disease are said to be due to autoantibodies directed against adrenal cells containing 21-hydroxylase, an enzyme involved in the production of cortisol and aldosterone.

Read more at Wikipedia.org


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Addison's disease: after 40 years much remains the same - Letter to the Editor
From British Medical Journal, 2/24/01 by Sarah Baker

EDITOR--Hilditch was diagnosed as having Addison's disease 40 years ago, when blood tests were more expensive and less frequently used for general screening than they are now.[1] Her experience that the disease was not diagnosed until she was near death is, however, still common to many patients today and prompts the remark that "Getting diagnosed is the hardest part of this disease."

Early detection of Addison's disease is not easy: non-specific symptoms and fatigue may be overlaid by signs of depression (as is also the case with hypothyroidism). Some patients never develop the full classical triad of hyperpigmentation, hypotension, and hyponatraemia. The nature of the disease also means that patients who have struggled with subclinical symptoms for years as their adrenal function deteriorates suddenly become vulnerable to a crisis when they meet flu or another illness which they no longer have the adrenal reserves to combat. Some patients report having been admitted to hospital with a crisis more than once before their disease is diagnosed.

In some cases, the reluctance of medical practitioners to consider an uncommon cause of disease remains a factor in late diagnosis. It is only four years since a Lesson of the Week in the BMJ documented the deaths of two young patients whose Addison's disease was not diagnosed until necropsy.[2] The first of these deaths took place in hospital; simple screening tests had raised Addison's disease as a possibility but were not acted on.

Addison's disease is relatively cheap and simple to treat. Our hope is that, by raising awareness of the condition, patients like Hilditch do not have to live with poor and deteriorating health until such time as an Addisonian crisis requiring admission to hospital prompts diagnosis.

Sarah Baker editorial director Concise Business To Business Information, Cheltenham GL54 5HD

Deana Kenward coordinator UK Addison's Disease Self-Help Group, 21 George Street, Guildford GU1 4NP

Katherine G White human resources consultant 97 Leith Mansions, Grantully Road, London W9 1LJ kgwhite@netcomuk.co.uk

On behalf of the UK Addison's Disease Self-Help Group.

[1] Hilditch K. My Addison's disease. BMJ 2000;321:645. (9 September.)

[2] Brosnan CM, Gowing NFC. Lesson of the Week: Addison's disease. BMJ 1996;312:1085-7.

COPYRIGHT 2001 British Medical Association
COPYRIGHT 2001 Gale Group

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