Addison's disease ICD-10 E271-E272 ICD-9 255.4 DiseasesDB 222 MedlinePlus 000378 eMedicine med/42 Addison's disease (also known as chronic adrenal insufficiency, or hypocortisolism) is a rare endocrine disorder. The disease was first described by British physician Thomas Addison in his 1855 publication: On the Constitutional and Local Effects of Disease of the Suprarenal Capsules. It is estimated that it affects about 1 to 2 in 100,000 people. It occurs when the adrenal glands, seated above the kidneys, fail to produce enough of the hormone cortisol and, sometimes, the hormone aldosterone. Addison's disease refers specifically to primary adrenal insufficiency, in which the adrenal glands themselves malfunction; secondary adrenal insufficiency occurs when the anterior pituitary gland does not produce enough adrenocorticotropic hormone (ACTH) to adequately stimulate the adrenal glands. Contents 1 Signs and symptoms 1.1 Early signs 1.2 Addisonian crisis 2 Diagnosis 3 Etiology 4 Treatment 5 Famous patients 6 In dogs 7 See also 8 References 9 External links Signs and symptoms Early signs Addison's disease progresses slowly, and symptoms may not present or be noticed until some stressful illness or situation occurs. Common symptoms are: Chronic fatigue that gradually worsens Muscle weakness Loss of appetite Weight loss Nausea/vomiting Diarrhea Low blood pressure that falls further when standing (orthostatic hypotension) Areas of hyperpigmentation (darkened skin), known as melasma suprarenale. Irritability Depression Craving for salt and salty foods Hypoglycemia (worse in children) For women, menstrual periods that become irregular or cease Tetany (particularly after drinking milk) due to phosphate excess Numbness of the extremities, sometimes with paralysis, due to potassium excess Increased number of eosinophils polyuria Addisonian crisis An illness or accident can aggravate the adrenal problems and cause an Addisonian crisis although the most common cause is discontinuing corticosteroid therapy without tapering the dose. Symptoms that may occur include: Brown coating on tongue and teeth due to iron loss hemolysis Sudden penetrating pain in the legs, lower back or abdomen Severe vomiting and diarrhea, resulting in dehydration Low blood pressure Loss of consciousness Hypoglycemia Untreated, an Addisonian crisis can be fatal. It is a medical emergency. Diagnosis In suspected cases of Addison's disease, one needs to demonstrate that adrenal hormone levels are low after appropriate stimulation with synthetic pituitary hormone. Once demonstrated, the cause of adrenal failure needs to be elucidated. The most common cause is autoimmune, and can be tested for with an assay for 21-hydroxylase antibodies. If there are no antibodies present, infectious or genetic causes should be sought. This may include imaging of the adrenal glands, tests for tuberculosis or HIV infection, and searching for metastatic cancer. Etiology Eighty to ninety percent of cases of Addison's disease are said to be due to autoantibodies directed against adrenal cells containing 21-hydroxylase, an enzyme involved in the production of cortisol and aldosterone. The remainder of cases are due to tuberculosis, HIV, sarcoidosis, amyloidosis, hemochromatosis, metastatic cancer to the adrenal glands, adrenal haemorrhage, Waterhouse-Friderichsen syndrome (massive, usually bilateral, hemorrhage into the adrenal glands caused by fulminant meningococcemia,) and congenital adrenal hyperplasia. Addison's disease can be an expression of an autoimmune polyendocrine syndrome when autoimmune reactions against other organs are also present. In APS type 1, 70% suffer from Addison's disease, while in type 2, 100% do (by definition). Through these syndromes, Addison's is associated with hypothyroidism, diabetes mellitus (type 1), vitiligo, alopecia and celiac disease. Treatment Treatment for Addison's disease involves replacing the missing cortisol and, if necessary, fludrocortisone as replacement for the missing aldosterone. Caution must be exercised when the person with Addison's disease has surgery or becomes pregnant. Famous patients A famous sufferer of Addison's Disease was President John F. Kennedy. Jane Austen is thought to have been another, although the disease had not been described during her lifetime. Charles Dickens is another famous writer who may have been a sufferer, according to Dr Carl Abbott, a Canadian medical researcher. In dogs The condition is rare in dogs, but it has been diagnosed in the Bearded Collie and Chihuahua breeds, and in rare cases in Standard Poodles. In dogs it is inherited via the female line - possibly due to autoimmune antibodies in the milk. The first sign of Addison's Disease is that the dog urinates much longer than normally. Urine is very light and pressure while urinating is lower than normal. When the dog loses its appetite and changes its temperament, a blood test must be taken as soon as possible. Addison's disease is treated with Prednisolone and Florinef. The dog must have its medicine twice a day after a meal. The amount of the medicine required depends on the weight of the dog. Even if the dog feels good, it is absolutely necessary to take blood samples every 3-4 months, to make sure the dog's condition is stable. An alternative to oral Florinef is a monthly injection called Percorten V. The active ingredient is DOCP (Desoxycorticosterone Pivalate). One of the medicines makes the dog drink more and the other one makes it urinate more. It is absolutely vital to provide fresh drinking water for the canine sufferer. The owner of the ill dog, should measure the dog's pulse while it is relaxed. In stressful situations it is necessary to know when the dog's heart is pumping too fast and needs relaxing. If the owner knows about an upcoming stressful situation (shows, travelling etc.), they may give a larger dose of medicine. The stress level of the ill dog must be as low as possible (both positive and negative stress). For example agility trainings, shows, guests etc. must be as stress-free as possible. See also Cushing's syndrome References Thomas Addison [1855]. On The Constitutional And Local Effects Of Disease Of The Supra-Renal Capsules (HTML reprint), London: Samuel Highley. Edward Headlam Greenhow [1866]. Addison's Disease: Clinical Lectures On Addison's Disease And A Report On Diseases Of The Supra-Renal Capsules (HTML reprint), Rotherhithe: J. W. Roche. External links Neuroimmunology, The Medical School, Birmingham University - Abid R Karim, Birmingham UK Addison's Disease Research Today - monthly online journal summarizing recent primary literature on Addison's Disease National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) (June 2004). NIH Publication No. 04–3054: Addison's disease. Endocrine and Metabolic Diseases Information Service. National Institue for Health. Retrieved on 2006-06-07. Addison's Disease Self Help Group (ADSHG) - UK support group Search Term: "Addison%27s_disease" Categories: Endocrinology | Eponymous diseases