Name: Addison's Disease
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Description

Addison’s disease is a disease of the adrenal cortex caused by autoimmune destruction of the adrenal gland with fibrosis and mononuclear cell infiltration. Symptoms become evident when more than 90% of the adrenal gland is destroyed. Addison’s disease is characterized by increased production of adrenocorticotropic hormone (ACTH) and adrenal insufficiency with reduced production of corticosteroids and androgens. Patients present with hypotension, weakness, fatigue, light headedness when standing up, anorexia, nausea, salt craving and increased melanin pigmentation of the skin.

A long-term endocrine disorder resulting from insufficient amounts of hormones released by the adrenal glands. Addison’s disease, also called adrenal insufficiency, is an uncommon disorder that occurs when your body doesn’t produce enough of certain hormones.

In Addison’s disease, your adrenal glands, located just above your kidneys, produce too little cortisol and, often, too little aldosterone. Addison’s disease occurs in all age groups and both sexes, and can be life-threatening. Treatment involves taking hormones to replace those that are missing.

Very rare (Fewer than 20,000 cases per year in US)

Treatment from medical professional advised

Requires lab test or imaging

Common for ages 35-50

More common in females

Can be dangerous or life threatening if untreated

Family history may increase likelihood

Emergency room visit recommended in severe cases

Symptoms

Addisonian crisis is characterized by:

Extreme tiredness
Weak muscles
Reduced appetite
Weight loss
Darkening of the skin (hyperpigmentation)
Reduced heart rate or low blood pressure
Light-headedness and fainting
Salt craving
Low blood sugar (hypoglycaemia)
Nausea or vomiting
Diarrhea
Abdominal pain
Muscle or joint pains
Irritability
Depression
Body hair loss or sexual dysfunction in women
Pain in the lower back, abdomen or legs
Severe vomiting and diarrhea that causes dehydration
Low blood pressure
Blood sugar
Confusion, fear, or restlessness
Loss of consciousness
High potassium levels in the blood (hyperkalemia)
Low sodium levels in the blood (hyponatremia)

The treatment involves replacement of insufficient hormones through hormone replacement therapies.

Clinical Utility

Highest genetic risk is associated with particular Major Histocompatibility Complex (MHC) alleles, specifically Human Leukocyte Antigen (HLA)-DR3 and HLA-DR4. Genetic testing can offer a better understanding of the origin of the disease, for improved diagnosis and treatment.

Scientific References

Badenhoop K et al. Susceptibility and resistance alleles of human leukocyte antigen (HLA) DQA1 and HLA DQB1 are shared in endocrine autoimmune disease. J Clin Endocrinol Metab. 1995; 80:2112.
Ghaderi M et al. MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency. J Clin Endocrinol Metab. 2006; 91:4107.
Gylling M et al. ss-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2000; 85:4434.
Maclaren NK et al. Thyroid, gastric, and adrenal autoimmunities associated with insulin-dependent diabetes mellitus. Diabetes Care. 1985; 8 Suppl 1:34.
Partanen J et al. Major histocompatibility complex class II and III in Addison’s disease. MHC alleles do not predict autoantibody specificity and 21-hydroxylase gene polymorphism has no independent role in disease susceptibility. Hum Immunol. 1994; 41:135.