$Unique_ID{BRK03427} $Pretitle{} $Title{Addison's Disease} $Subject{Addison's Disease Adrenal Hypoplasia Adrenocortical Hypofunction Adrenocortical Insufficiency Chronic Adrenocortical Insufficiency Primary Adrenal Insufficiency Primary Failure Adrenocortical Insufficiency Adrenoleukodystrophy Amyloidosis ACTH Deficiency Cushing's Syndrome Schmidt Syndrome Adrenal Hyperplasia, Congenital (CAH)} $Volume{} $Log{} Copyright (C) 1985, 1986, 1988, 1991, 1993 National Organization for Rare Disorders, Inc. 46: Addison's Disease ** IMPORTANT ** It is possible that the main title of the article (Addison's Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Adrenal Hypoplasia Adrenocortical Hypofunction Adrenocortical Insufficiency Chronic Adrenocortical Insufficiency Primary Adrenal Insufficiency Primary Failure Adrenocortical Insufficiency Information on the following diseases can be found in the Related Disorders section of this report: Adrenoleukodystrophy Amyloidosis ACTH Deficiency Cushing's Syndrome Schmidt Syndrome Adrenal Hyperplasia, Congenital (CAH) General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Addison's Disease is a rare disorder characterized by chronic, usually progressive, insufficient functioning of the outer layer of the adrenal glands (adrenal cortex). Deficiencies of cortisol and aldosterone (hormones manufactured in the adrenals) result in low levels of sodium and chloride in the blood and body tissues, and high levels of potassium (electrolyte imbalance) in the body. Increased excretion of water and low blood pressure (hypotension) can lead to dehydration (extremely low levels of water in the body). Major symptoms of Addison's Disease include fatigue, gastrointestinal discomfort, and changes in skin color (pigmentation). Symptoms The early symptoms of Addison's Disease may include: weakness, fatigue, loss of appetite (anorexia), increased water excretion, low blood pressure (hypotension), and darkened color of scars, skin folds, and/or mucous membranes (hyperpigmentation). Black freckles may appear on the head and shoulders. Later symptoms of Addison's Disease may include: nausea, dehydration as a result of vomiting and diarrhea, dizziness, and/or the inability to withstand exposure to cold temperatures. Other symptoms may also include: episodes of unconsciousness and/or fainting (syncopal attacks), general indifference to the events of daily living (apathy), mental confusion, fever, abdominal pain, and/or low blood sugar (hypoglycemia). An acute life-threatening state of extreme insufficiency of adrenocortical hormones (adrenal or "Addisonian" crisis) may occur in people with Addison's Disease. This crisis may begin as a sudden loss of strength, severe pain in the abdomen, lower back, and/or kidney failure. Causes The exact cause of Addison's Disease and the associated loss of function of the adrenal cortex is not known. Approximately 75 percent of cases of Addison's Disease are thought to be autoimmune related. Autoimmune disorders occur when the body's natural immune defenses (antibodies, lymphocytes, etc.), against invading organisms mistakenly attack perfectly healthy tissue. Other cases of Addison's Disease may be caused by the partial destruction of the adrenal cortex due to other disorders including tuberculosis, the growth of a tumor, and/or the abnormal accumulation of a fatty-like substance within the adrenals (Amyloidosis). Acute infection, trauma, surgery, and/or sodium loss caused by heavy sweating can trigger an adrenal crisis. (For more information on these disorders, choose "Tuberculosis" and/or "Amyloidosis" as your search terms in the Rare Disease Database.) Affected Population Addison's Disease affects males and females in equal numbers and may occur at any age. Approximately 4 in 100,000 people in the United States are affected with Addison's Disease. Related Disorders Symptoms of the following disorders can be similar to those of Addison's Disease. Comparisons may be useful for a differential diagnosis: Adrenoleukodystrophy is a rare inherited metabolic disorder characterized by abnormally high levels of very long chain fatty acids (VLCFA) in the blood plasma and tissues of the body. This results in the progressive loss of the fatty covering (myelin sheath) on nerve fibers within the brain (cerebral demyelination) and the degeneration of the adrenal glands (adrenal atrophy). Symptoms of Adrenoleukodystrophy may include: progressive spastic partial paralysis (paraparesis), an impaired ability to coordinate muscle movement (ataxia), and/or muscular rigidity (hypertonia). The symptoms of decreased adrenal gland function associated with Adrenoleukodystrophy may include: low blood pressure (hypotension), generalized weakness, fatigue, excessive loss of water from body tissues (dehydration), weight loss, an abnormally small heart (microcardia), an increase of color (pigmentation) in the skin, and/or a decrease in the secretion of adrenal hormones. (For more information on this disorder, choose "Adrenoleukodystrophy" as your search term in the Rare Disease Database.) Amyloidosis is the term applied to a group of metabolic disorders in which amyloid (a fibrous protein) accumulates in tissues of the body. The excessive accumulation of amyloid causes the affected organ to malfunction; accumulation may be localized, general, or systemic. Secondary Amyloidosis commonly impairs the function of the kidneys, liver, spleen, and/or adrenal glands. The symptoms of Amyloidosis are varied and relate to the organs that have an amyloid buildup. Generally the involved organs become enlarged and have a firm, waxy appearance. (For more information on this disorder, choose "Amyloidosis" as your search term in the Rare Disease Database.) ACTH Deficiency is a rare endocrine disorder characterized by decreased or absent adrenocorticotropic hormone (ACTH) which is normally produced in the pituitary gland. The adrenal glands produce abnormally low levels of cortisol and steroid hormones (secondary adrenal insufficiency). The symptoms of this disorder may include: weight loss, profound loss of appetite (anorexia), muscle weakness, nausea, vomiting, and/or low blood pressure (hypotension). (For more information on this disorder, choose "ACTH Deficiency" as your search term in the Rare Disease Database.) Cushing's Syndrome is a rare disorder of the outer layers of the adrenal glands (adrenal cortex) that is associated with many symptoms resulting from excess amounts of corticosteroids produced by the adrenal cortex. Typically people with Cushing's Syndrome gain excessive weight; fat deposits result in a rounded shape to the face, neck, and trunk of the body. Typically the legs and arms remain slender. Other symptoms include: redness to the face, thin and fragile skin, slow healing, and/or reddish-blue stretch marks on the arms, breasts, abdomen, and thighs. Low blood sugar (hyperglycemia), severe weakness and fatigue are common in people with Cushing's Syndrome. (For more information on this disorder, choose "Cushing" as your search term in the Rare Disease Database.) Schmidt Syndrome is a rare disorder characterized by multiple hormone deficiencies, the presence of Addison's Disease, and decreased activity of the thyroid gland. Others glands that may demonstrate decreased levels of hormone secretion include the parathyroids, testes or ovaries, and/or the pancreas. A Vitamin B12 deficiency may also occur. Symptoms of Schmidt Syndrome may include a general loss of energy, muscle weakness, anemia, fatigue, shortness of breath, loss of hair (alopecia), and/or the appearance of white spots on various parts of the body (vitiligo). (For more information on this disorder, choose "Schmidt" as your search term in the Rare Disease Database.) Congenital Adrenal Hyperplasia (CAH) is a group of rare endocrine disorders resulting from a defect in the production of hormones in the adrenal glands (adrenal corticosteroids). The adrenal glands become enlarged and produce abnormally excessive amounts of androgens resulting in abnormalities of sexual development. Low levels of hormones, particularly cortisol, may cause a variety of metabolic problems and symptoms of Addison's Disease. Symptoms may include: weakness, nausea, vomiting, anorexia, irritability, depression, darkening of the skin, and/or low blood pressure. (For more information on this disorder, choose "Congenital Adrenal Hyperplasia" as your search term in the Rare Disease Database.) Therapies: Standard The chronic adrenal insufficiency that characterizes Addison's Disease is treated with replacement therapy that consists of cortisone and fludrocortisone; these replacement hormones are taken with meals. The dosage of these drugs should be increased during infection, trauma, surgery, and other stress to prevent an acute adrenal crisis. An adrenal crisis demands immediate intravenous administration of high- dose hydrocortisone succinate or phosphate and fluid and electrolyte replacement; a short-term course of other drugs called vasopressors may be needed to maintain blood pressure. Patients should carry a card or wear a tag stating that they have Addison's disease. Therapies: Investigational The National Institute of Diabetes, Digestive & Kidney Diseases (NIDDK) is conducting a study on Addison's Disease. For more information have your physician contact: Joan Chamberlain, Deputy Director NIH/National Institute of Diabetes, Digestive & Kidney Diseases Building 31, Room 9A-04 9000 Rockville Pike Bethesda, Maryland 20892 This disease entry is based upon medical information available through March 1993. Since NORD'S resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resource section for the most current information about this disorder. Resources For more information on Addison's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Adrenal Diseases Foundation, Inc. 500 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 National Digestive Diseases Information Clearinghouse P.O. Box NDDIC Bethesda, MD 20892 (301) 468-6344 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1340, 1460-61. TEXTBOOK OF ENDOCRINE PHYSIOLOGY, James E. Griffin, and Sergio R. Ojeda., Editors; Oxford University Press, 1988. Pp. 258-9. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. P. 36. DELAYED DIAGNOSIS OF ADDISON'S DISEASE. J.R. Paterson, et al.; Ann Clin Biochem (July, 1990; 27(PT 4)). Pp. 378-81. SCHMIDT'S SYNDROME: A RARE CAUSE OF PUBERTY MENORRHAGIA. J.B. Sharma, et al.; Int J Gynaecol (December, 1990; 33(4)). Pp. 373-75. HYPERKALAEMIC PERIODIC PARALYSIS: A RARE PRESENTATION OF ADDISON'S DISEASE. J.M. Sowden, et al.; Postgrad Med J (April, 1989; 65(762)). Pp. 238-40.