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Addison's disease

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Addison's disease
SpecialtyEndocrinology Edit this on Wikidata

Addison's disease (also known as chronic adrenal insufficiency, or hypocortisolism) is a rare endocrine disorder in which the body produces insufficient amounts of adrenal steroid hormones (glucocorticoids and often mineralocorticoids). 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".

In primary adrenal insufficiency (classic Addison's disease) the hormone aldosterone is also deficient. Many of the symptoms of Addison's disease arise due to the hyposecretion of aldosterone leading to hyperkalemia (high blood potassium levels) and metabolic acidosis (increased acidity of the blood due to decreased bicarbonate levels). Often the production of adrenaline is also diminished.

Treatment is with replacement of the hormones (oral hydrocortisone and fludrocortisone). If the disease is caused by an underlying problem, this is addressed. Regular follow-up and monitoring for other health problems is necessary.

Cortisol
Aldosterone
Epinephrine

Symptoms

The initial onset of Addison's disease usually affects the body slowly (over several months). The symptoms tend to be non-specific, and may not be noticed until some stressful intercurrent illness or situation occurs. Common symptoms are:

On examination, the following may be noticed:

Routine investigations may show:

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:

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.

Genetics

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 having more than one person with Addison's disease are rare (less than 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, particularly 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).

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.

Causes

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 (particularly in patients receiving anticoagulation therapy (i.e. on "blood thinners"), Waterhouse-Friderichsen syndrome 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.

Pathophysiology

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 glucocorticoids and mineralocorticoids. Causes include the following:

  • Autoimmune disease
  • Tuberculosis
  • Infections of the adrenal glands
  • Spread of cancer to the adrenal glands
  • Bleeding into the adrenal glands (seen in patients using anticoagulants such as heparin or warfarin (Coumadin)

Autoimmune disease is the most prevalent cause of damage. In an autoimmune disease the body creates antibodies that attack the glands (as if it were a disease) in the same way the immune system fights infection. Hence, it is not surprising that this form of adrenal gland damage is associated with other autoimmune diseases such as hypothyroidism (Hashimoto's thyroiditis), rheumatoid arthritis, type I diabetes, etc. Other causes of failure of the adrenal glands may include the following:

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.

Treatment

Maintenance 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.

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.

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. [1] Addison's treatment courses by the mother are generally considered safe for baby during pregnancy.

Epidemiology

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.[who?] Research has shown no significant predispositions based on ethnicity. [5]

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.

Canine hypoadrenocorticism

The condition is relatively rare, but has been diagnosed in all breeds of dogs. 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.

Famous Addisonians

  • Paula Abdul is reported to have been diagnosed with Addison's disease.
  • President John F. Kennedy is one of the best-known Addison's disease sufferers.
  • Popular singer Helen Reddy. [6]
  • Scientist Eugene Merle Shoemaker Co-discoverer of the Comet Shoemaker-Levy 9.[7]
  • French Carmelite nun and religious writer Blessed Elizabeth of the Trinity [8]
  • Jane Austen is thought to have been another, although the disease had not been described during her lifetime.
  • According to Dr. Carl Abbott, a Canadian medical researcher, Charles Dickens may also have been afflicted.[1]
  • Osama bin-Laden - may be an Addisonian: Wright (The Looming Tower, 2006, p. 139) notes that bin-Laden manifests all the key symptoms: "low blood pressure, weight loss, muscle fatigue, stomach irritability, sharp back pains, dehydration, and an abnormal craving for salt". Bin-Laden is known to have been consuming large amounts of the drug Arcalion to treat his symptoms.

See also

References

  1. ^ L. Williams; et al. (1991). "The Nineteenth Century: Victorian Period". The Year's Work in English Studies. 72 (1). Oxford University Press: 314–360. doi:10.1093/ywes/72.1.314. {{cite journal}}: Cite has empty unknown parameter: |1= (help); Explicit use of et al. in: |author= (help)

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