Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Addison’s Disease

Sometimes called primary adrenal insufficiency.

What is Addison’s Disease?

• Addison’s disease is an uncommon, long-term disorder of the endocrine system
• The disease is characterized by insufficient production of two critical hormones: cortisol and aldosterone, leading to a state called adrenal insufficiency
• Symptoms often develop slowly, but the disease can potentially be a medical emergency if left untreated
• Addison’s disease is usually diagnosed by medical imaging, blood tests, and urine tests
• The disease is named after Thomas Addison, who graduated from the University of Edinburgh Medical School and described the illness in 1855.

How Do You Get It?

• Middle aged women are most likely to be affected by Addison’s disease
• The illness can appear alongside several different medical conditions and diseases, including:
  • Alopecia
  • Diabetes
  • Chronic mucocutaneous candidiasis
  • Graves’ disease
  • Vitiligo
  • Pernicious anemia
  • Chronic lymphocytic thyroiditis
  • Acquired hypoparathyroidism
• There are several different possible causes of Addison’s disease
  • Impaired steroidogenesis – These are mechanisms that prevent the formation of the hormones, such as abetalipoproteinemia, Smith-Lemli-Opitz syndrome, and congenital adrenal hyperplasia
  • Adrenal dysgenesis – These causes have a genetic basis and are generally very rare. An example include DAX-1 mutations.
  • Adrenal destruction – The most common cause of Addison’s disease is autoimmune adrenalitis, in which the immune system attacks and destroys the adrenal cortex.

What Are The Symptoms?

• Addison’s disease can cause a wide range of symptoms that tend to emerge slowly. Symptoms can include:
  • Skin
    • Vitiligo
    • Hyperpigmentation, in which the skin begins to darken
  • Changes specific to women
    • Reduced sex drive
    • Altered menstrual cycle
    • Loss of body hair
  • Behavioral changes
    • Poor concentration
    • Irritability
    • Depression
    • Anxiety
  • Gastrointestinal
    • Muscle wasting
    • Malnutrition
    • Nausea and/or vomiting
    • Abdominal pain
    • Diarrhea
    • Loss of appetite
  • Other characteristics can vary but may include fatigue, lightheadedness, and a craving for salty foods
• If a patient is not receiving treatment, the condition can trigger adrenal crisis, which can constitute a medical emergency. Symptoms include:
  • Fever
  • Sudden pain in the legs, back, and abdomen
  • Convulsions
  • Severe vomiting and diarrhea, which can trigger dehydration
  • Lethargy
  • Hypercalcemia (high blood calcium)
  • Hyperkalemia (high blood potassium)
  • Psychosis
  • Hyponatremia (low blood sodium)
  • Low blood pressure
  • Hypoglycemia (low blood glucose)

How Is It Treated?

• Treatment for Addison’s disease requires replacement of the missing hormones
  • Treatments include hydrocortisone, prednisolone, or prednisone
    • These treatments replace cortisol
  • Many patients also use fludrocortisone, which replaces the missing aldosterone
• Doses should be increased during illness or before dental treatment or surgery
• Dietary changes can also be helpful for some patients. Recommendations include:
  • A diet high in calcium and vitamin D
  • A high sodium diet, particularly for those with low aldosterone
• Treating adrenal crisis requires intravenous saline solution with dextrose, intravenous glucocorticoids
• Treatment is required for the duration of the patient’s life
• The risk of death is doubled in Addison’s disease compared to an unaffected person
• Overall people living with Addison’s disease can live relatively normal lives when receiving proper treatment

Where Can I Learn More???

• Check out our cornerstone on this disease here.
• Learn more about this condition from the National Adrenal Diseases Foundation.