Addison's disease

Content

Introduction

Addison's disease (also known as primary adrenal insufficiency or hypoadrenalism) is a rare disease that affects two small glands, called adrenals, which are located above the kidneys and produce two essential hormones: cortisol and aldosterone.

In Addison's disease, the adrenal glands are damaged and do not produce adequate amounts of the two hormones.

Addison's disease is more common in women than men and, although it affects people of any age, it is most common between the ages of 30 and 50.

Disorders (symptoms) that appear early on are also common to other diseases and include:

  • fatigue (lack of energy or motivation)
  • muscle weakness
  • mild depression
  • loss of appetite and weight
  • increased thirst

Over time, the following may also occur:

  • dizziness
  • fainting
  • cramps and exhaustion
  • dark lips or gums

The exact cause of Addison's disease is not known but in 70% of people there is an involvement of the body's defense system (immune system) which attacks and destroys the outermost layer of the adrenal gland (the cortex), interrupting the production of the steroid hormones, aldosterone and cortisol.

Addison's disease is treated by giving the missing hormones (replacement therapy). In this way, ailments can be largely alleviated. In fact, most people live a normal life, with few limitations.

In some cases, the disease can suddenly worsen and cause the so-called "adrenal crisis": this occurs when cortisol levels drop significantly.

The adrenal crisis constitutes a "medical emergency and if it occurs it is necessary to immediately call 112 (or 118) and ask for an" ambulance.

Symptoms

Initially, Addison's disease can be difficult to detect because the initial symptoms (symptoms) are similar to those of many other diseases. They include:

  • fatigue (lack of energy or motivation)
  • extreme sleepiness or tiredness (lethargy)
  • muscle weakness
  • mild depression or irritability
  • loss of appetite and weight
  • need to urinate frequently
  • increased thirst
  • craving for salty foods

Lack of the hormone aldosterone can cause dehydration as it works by regulating the balance of salts and water.

Subsequent complaints (symptoms)

Over the course of months or years, other types of ailments tend to gradually develop.

Stress caused by another illness or an accident, for example, can cause:

  • dizziness and fainting, caused by low blood pressure
  • nausea
  • He retched
  • diarrhea
  • abdominal, joint or back pain
  • muscle cramps
  • depression
  • dark coloring (hyperpigmentation) of the skin, lips and gums, particularly in the creases of the hands, on scars, on the knuckles or knees
  • decreased sexual desire (libido), particularly in women
  • menstrual irregularities, in women

Children with Addison's disease may be late in sexual maturity (puberty).

Some sick people experience low blood sugar levels (hypoglycemia) resulting in difficulty concentrating, confusion, anxiety and even loss of consciousness (particularly in children).

If any disorders associated with Addison's disease appear, it is advisable to consult your family doctor who can ascertain (diagnose) or rule out the presence of the disease. Ailments improve with adequate treatment.

Adrenal crisis

In untreated Addison's disease, the levels of hormones produced by the adrenal glands gradually decrease and the disorders (symptoms) progressively worsen until they reach a life-threatening situation called adrenal or Addisonian crisis.

Signs of adrenal crisis include:

  • severe dehydration
  • pallor, feeling cold
  • sweating
  • rapid and shallow breathing
  • dizziness
  • severe vomiting and diarrhea
  • severe muscle weakness
  • headache
  • severe sleepiness or loss of consciousness

An adrenal crisis is a "medical emergency and can be fatal in the absence of treatment. Should it occur, it is necessary to immediately call 112 or 118 to ask for an" ambulance.

Causes

Addison's disease develops when the outer layer of the adrenal glands (the adrenal cortex) is damaged and, as a result, hormone production is reduced.

The causes of Addison's disease include diseases that compromise the functioning of the adrenal glands, causing an insufficiency in the amount of hormones produced: 80% of cases are caused by autoimmune and infectious forms (tuberculosis). Other causes of primary adrenal insufficiency are adrenal tumors, amyloidosis, hemochromatosis, adrenal bleeding, surgical removal of the adrenal glands, or adrenal disease present at birth (congenital).

Autoimmunity

Autoimmunity is the most common cause of Addison's disease.

The body's defense system (immune system) normally protects against infections and diseases. In autoimmune disorders, however, the immune system does not recognize its own organs and tissues and, by mistake, attacks and destroys them.

Addison's disease can develop when the immune system attacks the adrenal glands, severely damaging the outer part (cortex). When 90% of the cortex is destroyed, the adrenal glands are no longer able to produce enough of the steroid hormones cortisol and aldosterone. Once their levels begin to decrease, Addison's disease disorders (symptoms) are felt.

Genetics

Research has shown that some people with certain genes are more likely to be affected by autoimmune disorders.

It is not clear how these genes lead to the development of Addison's disease but the risk is higher if a close family member suffers from an "other autoimmune disease such as:

  • vitiligo, chronic (long-term) skin disease that causes white patches to appear
  • type 1 diabetes, chronic disease caused by an excess of glucose in the blood
  • hypothyroidism

Other causes

Tuberculosis (TB), along with autoimmunity, is the most common cause of Addison's disease worldwide. Tuberculosis is a "bacterial infection that primarily affects the lungs, but can also spread to other parts of the body. It can cause Addison's disease if it damages the adrenal glands.

Other possible causes of Addison's disease include:

  • infections, such as those related to AIDS or fungal infections
  • bleeding of the adrenal glands, sometimes associated with meningitis or other types of severe sepsis
  • adrenal gland cancer
  • amyloidosis, a disease in which amyloid, a protein produced by bone marrow cells, accumulates in the adrenal glands and damages them
  • surgical removal of both adrenal glands (adrenalectomy), for example to remove a tumor
  • adrenoleukodystrophy (ALD), a rare inherited disease that limits the life of the adrenal glands and brain nerve cells and affects young people more often
  • some treatments needed for Cushing's syndrome (very high levels of cortisol)

Secondary adrenal insufficiency

The production of hormones by the adrenal glands can also be affected by damage to the pituitary gland, a small gland located under the brain that stimulates the adrenal gland by releasing a specific hormone.

Secondary adrenal insufficiency, caused by damage to the pituitary gland, is distinct from Addison's disease and can occur in pituitary gland cancer.

Diagnosis

The assessment (diagnosis) of Addison's disease is based first of all on the present disorders (symptoms), on the current and past health status of the person and on any autoimmune diseases present in close family members.

To ascertain the disease, the doctor performs a series of assessments:

  • possible dark coloring of the skin, in particular in:
    • creases in the palm of the hand
    • elbow creases
    • any scar
    • lips and gums
    However, hyperpigmentation does not occur in all cases of Addison's disease
  • blood pressure measurement either lying down or immediately after standing up, to check for "possible lowering of blood pressure when changing position (postural or orthostatic hypotension)

He may also prescribe a series of tests that include:

  • blood analysis, to measure sodium, potassium and cortisol levels. Abnormalities of electrolytes, including low sodium levels, i.e. less than 135 milliequivalents / liter, (mEq / L), high potassium levels (greater than 5 mEq / L), and elevated BUN are characteristic and may indicate the presence of Addison's disease
  • dosage of some hormones, prescribed by the reference specialist: the endocrinologist.A low level of aldosterone hormone, high amounts of adrenocorticotropic hormone (ACTH), low blood glucose levels and / or the presence of antibodies directed against the adrenal gland (positive adrenal antibodies) could be signs of Addison's disease
  • Synacthen stimulation testIf the level of cortisol in the blood is low or the symptoms present suggest Addison's disease, it is necessary to undergo the adrenal cortex stimulation test. The Synacthen is an artificial (synthetic) copy of adrenocorticotrophic hormone (ACTH) produced naturally by the pituitary gland to stimulate the adrenal glands to release the hormones cortisol and aldosterone. Synacthen, the adrenal glands should respond in the same way they would react with the natural ACTH hormone and release cortisol and other steroid hormones into the blood. The test consists of checking the amount of cortisol in the blood before the injection of Synacthen in the arm and cortisol measurement after 30 and 60 minutes. If the adrenocorticotropic hormone (ACTH) level is high (greater than or equal to 50 picograms per milliliter, pg / mL) but cortisol levels are low (less than 5 micrograms per deciliter, mg / dL), Addison's disease is confirmed
  • thyroid function test, in addition to the stimulation test Synacthen you can measure the functioning of the thyroid gland that produces hormones to control growth and metabolism in the body. People with Addison's disease often have an underactive thyroid gland (hypothyroidism)
  • instrumental imaging tests, in some cases the endocrinologist may order computed tomography (CT) or magnetic resonance imaging (MRI) of the adrenal glands
  • assessment during an adrenal crisis, untreated Addison's disease leads to an adrenal crisis.While it is in progress, there is not enough time to perform a Synacthen stimulation test and, therefore, to confirm the disease. The adrenal crisis, in fact, represents an "urgency because it can be life-threatening and requires immediate care.

Therapy

Addison's disease is persistent over time (chronic) and requires continuous drug treatment. Daily administration of the missing hormones (replacement therapy) can restore normal levels even when adrenal damage is advanced.

Thanks to these treatments the patient can lead a normal life.

In some cases, it is possible to treat the underlying causes of the disease as is the case, for example, in the case of tuberculosis (TB) which is treated with a course of antibiotics for a period of at least six months.

Addison's disease medications

Treatment usually involves giving corticosteroid replacement therapy for the rest of life. Corticosteroid drugs are used to replenish the hormones cortisol and aldosterone that the body no longer produces. Usually, they are taken in tablet form two or three times a day.

In most cases, a drug called cortisol is used to replace cortisol hydrocortisone. Other less commonly used medicines are prednisolone or dexamethasone. Aldosterone is replaced with a drug called fludrocortisone.

In general, drugs used for Addison's disease have no unwanted effects (side effects) unless the dose is too high. If you take a larger dose than you need for a long period of time, your risk of osteoporosis, mood swings and difficulty sleeping (insomnia) increases.

Emergency treatment

In the event of an emergency, the patient or his / her family must be able to give an injection of hydrocortisone.This may be necessary in case of shock after an injury or in case of vomiting and diarrhea, where it is not possible to take medication by mouth (orally).

After administering hydrocortisone in an emergency situation, the treating physician should be notified.

Treat the adrenal crisis

The adrenal crisis, or Addisonian crisis, needs to be addressed with urgent medical attention.

Inpatient therapy consists of rehydrating the person with a mixture of salts and sugars (sodium, glucose and dextrose) and administering hydrocortisone to replace the missing cortisol. In addition, where possible, the possible causes of the adrenal crisis such as, for example, an infection are treated.

Living with

People with Addison's disease frequently experience periods of fatigue and loss of strength; learning to handle them can take some time.

Appointments with the endocrinologist should be scheduled every 6-12 months to check progress and, if necessary, adjust therapy.

Missing a dose of medication, or delaying taking it, can lead to anxiety and insomnia; not taking medication can cause adrenal crisis, so you need to:

  • remember to always have medical prescriptions
  • have reserve medications with you, for example in the bag, in the car or at work
  • take your medicines every day at the right time
  • pack extra amounts of medications in your suitcase if you are leaving, usually double what you would normally need
  • put the drug in your hand luggage if you are traveling by plane (accompanied by a note from the doctor explaining the need)
  • inform close friends or colleagues of your illness. Tell them about the signs of the adrenal crisis and how to intervene in case of need

Medical alert bracelet

Healthcare professionals around the world advise people with Addison's disease to wear the medical alert bracelet.

After a serious accident, such as a car accident, a healthy person produces more cortisol to cope with stressful situations and the additional physical stress that comes from serious injury. In the case of Addison's disease the body does not produce cortisol, it will be therefore an injection of hydrocortisone is needed to replace it and prevent an adrenal crisis.

Wear a medical alert bracelet it is very useful for informing the medical staff of the disease and the medications that are needed. The bracelets are jewels engraved with the name of the disease you suffer from and with a number to contact in case of emergency.

Adjustment of medicines

At certain times, your therapy may need to be changed, such as increasing your drug dosage if any of the following problems occur:

  • disease or infection, particularly in the presence of fever equal to or higher than 38 ° C
  • accidents, such as a car accident
  • surgery
  • dental procedure

The endocrinologist will check the dosage of the medicines and recommend any adjustments.

Bibliography

NHS. Addison "s disease (English)

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