Addison's Disease

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Diagnosis
6 Treatment and Management
7 Prognosis
8 Resources
9 References

[edit] Name of Condition

Addison’s disease, also known as adrenal insufficiency or hypocortisolism.

[edit] Definition

Addison’s disease is a hormonal or endocrine disorder that occurs when the adrenal glands produce insufficient amounts of the hormones cortisol and aldosterone. It can occur to any age group and occurs equally among men and women.

[edit] Description, Signs and Symptoms

Symptoms of Addison’s disease develop gradually over a period of several months, and typically include:

decreased appetite and significant weight loss
muscle weakness, fatigue
darkening of skin known as hyperpigmentation
nausea
vomiting
diarrhea
drop in blood pressure, most often when standing up
increased craving for salty foods
emotional changes such as depression and irritability
in severe cases, hypoglycemia can occur, particularly in children
irregular menstruation for some women

[edit] Inheritance

The causes of adrenal insufficiencies, in general, are of three categories:

Adrenal dysgenesis causes which are genetic and extremely rare. These genetic mutations include SF1 transcription factor and DAX-1 genes.
Impaired steroidogenesis result in abnormalities of cholesterol delivery which is required for the adrenal glands to form cortisol.
Autoimmune adrenal cortex destruction

Inheritance is thought to be the cause of polyendocrine deficiency syndrome which may also be a cause of Addison’s disease, as it leads to endocrine deficiencies.

Tuberculosis (TB) is an infection that often results in the destruction of the adrenal glands. TB is the most common cause of Addison’s disease accounts for around 20% of primary adrenal insufficiencies in developed nations.

Other, less common causes of adrenal insufficiencies that may lead to Addison’s disease are: infections of the adrenal or pituitary glands, the spread of cancer cells onto the adrenal glands, and previous surgical removal of adrenal glands.

[edit] Diagnosis

Diagnosis is difficult to make. Tests for cortisol and adolsterone levels as well as history of symptoms such as the ones previously listed are helpful in making a diagnosis for Addison’s disease. Once a diagnosis is made, it is important to continue on with attempts at discovering the source of the condition, so tests for tuberculosis and other infections are used. If it is a result of an autoimmune deficiency, then antibodies are often used.

[edit] Treatment and Management

Treatment for Addison’s disease, despite the specific cause, is aimed towards restoring cortisol and aldosterone levels. This can be achieved through oral medications, such as hydrocortisone and fludrocortisone. Addison’s disease is a chronic condition so regular monitoring by a physician through examinations, laboratory tests, and discussion of symptoms if they occur is important for a patient.

[edit] Prognosis

With proper management, routine medications, and regular visits with a physician, a patient with Addison’s disease can have a normal life with no specific functional setbacks