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Addison's disease

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Addison's disease
Classifications and external resources
ICD-10 E27.1-E27.2
ICD-9 255.4
DiseasesDB 222
MedlinePlus 000378
eMedicine med/42 

Addison's disease (also known as chronic adrenal insufficiency, or hypocortisolism) is a rare endocrine disorder which results in the body not producing sufficient amounts of certain adrenal hormones. The condition was first described by British physician Thomas Addison in his 1855 publication, On the Constitutional and Local Effects of Disease of the Suprarenal Capsules. Those who have Addison's are often referred to in research and informational articles as "Addisonians."

Contents

[edit] Characteristics

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

[edit] Cause

The symptoms of Addison's disease are caused by the failure of the adrenal glands, seated above the kidneys, to produce enough of the hormone cortisol and, in some cases, the hormone aldosterone. Often the production of adrenaline is also diminished or eliminated.

[edit] Signs and symptoms

Addison's disease usually develops slowly (over several months), and symptoms may not present or be noticed until some stressful illness or situation occurs. Common symptoms are:

[edit] Addisonian crisis

In some cases, Addison's symptoms may present rapidly. This "acute adrenal failure" is known as an Addisonian crisis and is a severe medical emergency. An illness or accident can aggravate the adrenal problems causing the Addisonian crisis (most common in untreated sufferers), although the most common cause (for those already diagnosed) is abrupt discontinuation of corticosteroid therapy without tapering the dose. Untreated, an Addisonian crisis can be fatal. It is a medical emergency, usually requiring hospitalization.

Symptoms that may occur include:

[edit] Addisonian episode

An Addisonian episode, is a less acute and less severe event than an Addisonian crisis and may consist of anorexia, nausea, vomiting, diarrhea, dehydration, weakness, or a combination of symptoms. Unlike the more advanced Addisonian crisis, it may be treated without hospitalization to prevent the onset of full crisis. [1]

[edit] Frequency

The frequency rate of Addison's disease in the human population is sometimes estimated at roughly 1 in 100,000. [2] Some research and information sites put the number closer to 40-60 cases per 1 million population. (1/25,000-1/16,600)[3] (Determining accurate numbers for Addison's is problematic at best and some incidence figures are thought to be underestimates. [4]) Addison's can afflict persons of any age, gender, or ethnicity, but typically presents in adults between 30 and 50 years of age. Women are slightly more likely to develop Addison's according to some studies. Research has shown no significant predispositions based on ethnicity. [5]

[edit] Heredity

There are several different causes for Addison's disease, and some have an inherited component. The most common cause of Addison's disease in western populations is autoimmune destruction of the adrenal cortex, and the proclivity to develop this adrenal autoimmune attack is most likely inherited as a complex genetic trait. This means that several different genes, interacting with as yet unknown environmental factors, are needed to get the problem. One genetic locus known to be involved in autoimmune Addison's is the HLA locus on chromosome 6. However, despite this genetic component, families with more than one person with Addison's disease in are rare (less then 2%). The exception to this is a rare condition called autoimmune polyendocrinopathy type 1 (APS1) or APECED syndrome, where people are affected in childhood or teenage years with a low blood calcium, Addison's disease and a tendency to get recalcitrant thrush infections. This APS1 disease is caused by a single gene problem, with affected people having 2 bad copies of a gene called AIRE on chromosome 21. Some research has shown that canine Addison's may have a genetic component, particurly in the standard poodle and boxer dog breeds.

More rarely, Addison's can occur as an X-linked condition (affecting only boys) associated with delayed or absent puberty (due to DAX1 gene problems) or associated with a nervous system disease (Adrenoleukodystrophy- the disease in the film called "Lorenzo's oil).

[edit] Medical procedures

The Mayo Clinic urges one to seek medical advice for potential Addison's disease "If you have severe fatigue, have unintentionally lost weight, feel progressively weaker, experience abdominal pain, have fainting spells and your skin has become darker, see your doctor to determine whether Addison's disease or some other medical condition may be the cause." [6]

[edit] 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. Today, 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. When Dr. Addison discovered the disease in the 19th century, the most common cause was tuberculosis, and more widespread.

[edit] Primary adrenal insufficiency

Also known as: primary Addison's disease

Primary Addison's disease is caused by damaged adrenal glands where the damage causes the insufficient production of the above-mentioned hormones. Most often the damage is caused by autoimmune disease, where the body creates antibodies that attack the glands (as if it were a disease) in the same way the immune system fights infection. Other causes of failure of the adrenal glands may include the following:

  • Tuberculosis
  • Infections of the adrenal glands
  • Spread of cancer to the adrenal glands
  • Bleeding into the adrenal glands

[edit] Secondary adrenal insufficiency

Also known as: secondary Addison's disease

Often caused by a diseased pituitary gland or when a person on corticosteroid medications for chronic conditions (e.g. arthritis, asthma) abruptly cease taking the medicines. Secondary Addison's disease is characterized by inadequate production of the pituitary hormone called adrenocorticotropic hormone, ACTH. ACTH triggers production of adrenal hormones and a shortage of ACTH can cause a shortage of the adrenal hormones, even though the adrenal glands themselves are not damaged.

[edit] Etiology

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.

The remainder of cases are due to tuberculosis, HIV, sarcoidosis, amyloidosis, hemochromatosis, metastatic cancer to the adrenal glands, adrenal haemorrhage, Waterhouse-Friderichsen syndrome (massive, usually bilateral, hemorrhage into the adrenal glands caused by fulminant meningococcemia,) and congenital adrenal hyperplasia.

Addison's disease can be an expression of an autoimmune polyendocrine syndrome when autoimmune reactions against other organs are also present. In APS type 1, 70% suffer from Addison's disease, while in type 2, 100% do (by definition).

Through these syndromes, Addison's is associated with hypothyroidism, diabetes mellitus (type 1), vitiligo, alopecia and celiac disease.

[edit] Treatment

Treatment for Addison's disease involves replacing the missing cortisol and, if necessary, fludrocortisone as replacement for the missing aldosterone. Caution must be exercised when the person with Addison's disease has surgery or becomes pregnant. Treatment for an acute attack, an Addisonian crisis, usually involves intravenous (into blood veins) injections of:

  • Cortisone (cortisol)
  • Saline solution (basically a salt water, same clear IV bag as used to treat dehydration)
  • Glucose

Cortisone must usually be continued for life. Medication may need to be increased during times of stress, infection, or injury.

[edit] Prognosis

While treatment solutions for Addison's disease are far from precise, overall long-term prognosis is typically good. Because of individual physiological differences, each person with Addison's must work closely with their physician to adjust their medication dosage and schedule to find the most effective routine. Once this is accomplished (and occasional adjustments must be made from time to time, especially during periods of travel, stress, or other medical conditions), symptomology is usually greatly reduced or occasionally eliminated so long as the person continues their dosage schedule accurately.

[edit] Life activities

Those with Addison's are strongly urged to adhere to the following lifestyle necessities (in a medical emergency, these may save the person's life):

  • Wear a medical alert bracelet or necklace and carry a medical information card at all times. This card should also instruct emergency medical personnel to inject 100 mg of cortisol should the bearer be found injured or unable to answer questions, as well as provide the name and phone number of the person's physician and nearest relative or other emergency contact. [7]
  • Always have extra medication handy, including a Crisis Kit.
  • Stay in contact with your doctor. When travelling, ensure a close friend or relative knows where you are and where you are heading (also, see the Travelling section below).

[edit] Daily challenges

For the person with Addison's disease, simple life tasks may be quite difficult, if not impossible. With the proper treatment, though, most people can carry out a highly functional life with only infrequent major interruptions. Generally, there are no specific physical or occupational restrictions for an Addisonian. Additionally, those with Addison's disease have a normal lifespan expectancy. [8]

[edit] Athletics

Addisonians are, by-and-large, capable of participating in a wide variety of sports. Some may find that their endurance is less than prior to the onset of Addison's disease, but others may notice very little difference at all. Like treatment regimens, activity level and residual effects on life activities are different from Addisonian to Addisonian.

[edit] Travel

When an Addison's disease sufferer travels, it is imperative that they create or maintain an emergency Crisis Kit. If traveling with a companion, it is usually recommended that the companion be both able and willing to give the Addisonian a hypodermic medication shot should it become necessary. With proper planning, including maintaining prescribed dosing schedules, travelling for those afflicted with Addisonians poses only minimal risks.

[edit] Relationships

People with Addison's disease typically are just as capable as others in forming all manner of relationships, from friendships to business contacts and intimate/romantic relationships. Different (and additional) from a regular relationship, though, those in relationships with an Addisonian, especially intimate/romantic relationships and close friends, is the potential opportunity for the Addisonian to explain what the condition is and basic emergency reactions in the case of an Addisonian Crisis in the presence of one of these close relationships.

[edit] High-risk events

[edit] Surgery

Surgeries may require significant adjustments to medication regimens prior to, during, and following any surgical procedure. The best preparation for any surgery, regardless of how minor or routine it may normally be, is to speak to one's primary physician about the procedure and medication implications well in advance of the surgery.

[edit] Pregnancy

Many women with Addison's have given birth successfully and without complication, both through natural labor and through cesarean delivery. Both of these methods will require different preventative measures relating to Addison's medications and dosages. As is always the case, thorough communication with one's primary physician is the best course of action. Occasionally, oral intake of medications will cause debilitating nausea and vomiting, and thus the woman may be switched to injected medications until delivery. [9] Addison's treatment courses by the mother are generally considered safe for baby during pregnancy.

[edit] Canine hypoadrenocorticism

The condition is relatively rare, but has been diagnosed in all breeds. In general, it is underdiagnosed, and one has to have a clinical suspicion of it as an underlying disorder for many presenting complaints. Females are overrepresented, and the disease often appears in middle age (4-7 years), although any age or gender may be affected.

Hypoadrenocorticism is treated with prednisolone and/or fludrocortisone (Florinef (r)) or a monthly injection called Percorten V (desoxycorticosterone pivlate (DOCP)). Routine blood work is necessary periodically to assess therapy.

Most of the medications used in the therapy of hypoadrenocorticism cause excessive thirst and urination. It is absolutely vital to provide fresh drinking water for the canine sufferer.

If the owner knows about an upcoming stressful situation (shows, traveling etc.), patients generally need an increased dose of prednisone to help deal with the added stress. Avoidance of stress is important for dogs with hypoadrenocorticism.

[edit] Famous Addisonians

[edit] See also

[edit] References

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[edit] External links

[edit] Support groups

cs:Addisonova choroba da:Addisons sygdom de:Morbus Addison es:Enfermedad de Addison he:מחלת אדיסון ms:Penyakit Addison nl:Ziekte van Addison ja:慢性原発性副腎皮質機能低下症 pl:Choroba Addisona pt:Doença de Addison sk:Addisonova choroba fi:Addisonin tauti sv:Addisons sjukdom

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