Addison’s disease is caused by a deficiency of the adrenal cortex. It results in hypotension and hyperpigmentation of the skin. The diagnosis is clinical and biological. Cause, treatment… Details with Professor Jérôme Bertherat, Head of the Endocrinology Department at the Cochin AP-HP Hospital.
Definition: what is Addison’s disease?
“Addison’s disease is a rare endocrine disease (prevalence of 8 to 14 cases/100,000) due to damage to the adrenocortical glands leading to a total deficiency in aldosterone and cortisol, explains Professor Jérôme Bertherat, endocrinologist. IThis is chronic adrenal insufficiency. It was an English doctor, Thomas Addison, who first described his first cases of slow adrenal insufficiency by bilateral destruction of the adrenals in the 19th century.“. Historically, Addison’s disease was a term characterizing damage to the adrenal glands tuberculosis. Today, this term includes all causes of peripheral chronic adrenal insufficiency. Peripherals, because we distinguish two types of diminished adrenal function :
- In the first case, the attack is centralthat is to say that it comes from the brain at the level of the pituitary gland which no longer stimulates the adrenal correctly: one speaks rather of corticotropic insufficiency, because only hormones derived from cortisol are deficient.
- In the second case, the anomaly is peripheraland it is the adrenal which is directly failing: its secretion not only ofhormones derived from cortisol but also mineralocorticoids is insufficient. This distinction is important both in clinical presentation and for diagnosis and treatment.
What causes Addison’s disease?
“Addison’s disease remains a rare sicknessrecognizes the Professor. It may be mainly due to tuberculosiswhich has become rare in France, or more frequently in a autoimmune disease called autoimmune cortical retraction“. Of the genetic diseasesinduced by drugs, cancers, hemorrhage adrenals, infections, are also involved.
What are the symptoms of Addison’s disease?
Common symptoms of the disease are:
- melanodermatanned coloring of the skin (especially at the level of the exposed parts of the body and the areas of friction), hence its nickname of tan disease ;
- significant fatigue, increased at the end of the day;
- depression sometimes;
- a decrease in blood pressure which can lead to discomfort;
- loss of appetite with weight loss;
- a taste for salt;
- dehydration,
- sometimes abdominal pain,
- vomiting, which you should be wary of in a person with known adrenal insufficiency, as this may suggest acute decompensation of the disease.
“These symptoms falling within the picture of acute adrenal insufficiency can sometimes be indicative of the diagnosis in a patient with more modest symptoms evolving over several months”adds the doctor.
“The gradual onset and the non-specific character of the first symptoms can lead to late diagnosis, recognizes Professor Bertherat. weight loss, dehydration and hypotension are characteristic of late stages of Addison’s disease“. The diagnosis is made following:
- the practice of blood tests such as the dosage ofACTH,
- the pituitary hormone which stimulates the secretion of the adrenal glands, which is increased in the event of Addison’s disease;
- the dosage of cortisol levels, always taken at 8 a.m., because the level varies greatly during the day; it is lowered;
- the dosage of aldosterone which is also lowered.
Sometimes, if in doubt, an ACTH stimulation test called Synacthen test definitely confirms Addison’s disease. “Additional tests are then added to find the cause of the disease: blood antibody tests ; as well as’a scanner which allows the study of the adrenals. Depending on these first elements, other examinations may sometimes be requested..
What is the treatment for Addison’s disease?
To overcome the hormonal deficit in aldosterone and cortisol, synthetic molecules are given to the patient:
- Hydrocortisone which is the same molecule as natural cortisol
- Fludrocortisonewhich has the action of aldosterone
“This treatment is most often lifelong because the destroyed gland cannot be reconstituted”, completes the specialist. The doses may be increased in the case of intercurrent illnesses (such as infections) or major stress. “If the nausea and vomiting does not allow oral administration of hydrocortisone, the use of injections is necessary. Each patient should have a vial of hydrocortisone 100 mg available. for administration by injection. The patient must always be provided with a card bearing the mention of his illness and the treatment applied. The treatment of Addison’s disease also requires a “therapeutic education” of the patient, because this pathology can become serious on certain occasions precipitating an acute decompensation if instructions are not respected.“The treatment must be taken conscientiously, temporarily increased in certain intercurrent situations, the diet should not exclude salt, no drug that can interfere with the adrenal hormones should be taken without the doctor’s agreement, and certain signs should lead to adjusting the treatment and consulting quickly: fever, abdominal pain or vomiting, disturbances of consciousness. …”.
What is the life expectancy in case of Addison’s disease?
Even when treated, Addison’s disease appears to be associated with a slight increase in mortality, especially in young subjects. “It is unclear if this slight increase is due solely to inappropriately treated acute adrenal insufficiency attacks or if this might also be involved. long-term complications“concludes Professor Bertherat.
Thank you to Pr Jérôme Bertherat, head of the Endocrinology department at Cochin AP-HP Hospital.
