$Unique_ID{BRK03479} $Pretitle{} $Title{APECED Syndrome} $Subject{APECED Syndrome Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Autoimmune Polyglandular Disease Type I PGA I Polyglandular Autoimmune Syndrome PGA II Polyglandular Autoimmune Syndrome PGA III Polyglandular Autoimmune Syndrome Addisons Disease Hypoparathyroidism Chronic Candidiasis Ectodermal Dysplasia} $Volume{} $Log{} Copyright (C) 1991 National Organization for Rare Disorders, Inc. 835: APECED Syndrome ** IMPORTANT ** It is possible that the main title of the article (APECED Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Autoimmune Polyglandular Disease Type I Disorder Subdivisions: PGA I (Polyglandular Autoimmune Syndrome) PGA II (Polyglandular Autoimmune Syndrome) PGA III (Polyglandular Autoimmune Syndrome) Information on the following diseases can be found in the Related Disorders section of this report: Addisons Disease Hypoparathyroidism Chronic Candidiasis Ectodermal Dysplasia 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. APECED Syndrome is a very rare genetic syndrome involving the autoimmune system. It is a combination of several distinct disorders. APECED stands for Autoimmune Polyendocrinopathy (APE), Candidiasis (C) and Ectodermal Dysplasia (ED). Major symptoms may include low calcium and phosphate levels in the blood (hypoparathyroidism), lack of tooth enamel (enamel dystrophy), loss of hair (alopecia) and absence of pigment in areas of the skin (vitiligo). An eye disorder, corneal dystrophy (keratopathy), may also occur. There may be failure of sexual development, yeast infections of the mouth and nails (candidiasis), and the inability to properly absorb nutrients from food (malabsorption). Patients may develop liver disease or insulin- dependent diabetes as well as any combination of the various disorders. Symptoms APECED Syndrome is defined as a combination of at least two of the following disorders: Hypoparathyroidism, Adrenocortical Failure or Candidiasis. Beginning in childhood, yeast infections of either the mouth or nails is usually one of the first apparent symptoms of APECED. Low plasma levels of calcium and phosphate (hypoparathyroidism) is often diagnosed before adrenal dystrophy. There may be an inability to adequately absorb nutrients with resulting diarrhea. Anemia, autoimmune thyroid disease, and loss or delay of sexual development may also occur. The combination of ectodermal dysplasia with candidiasis or hypoparathyroidism may also indicate an APECED patient. Disorder Subdivisions: There are three types of recognized Polyglandular Autoimmune Syndrome (PGA). Autoimmune diseases are characterized by the body's natural defense system (e.g., antibodies and lymphocytes) attacking healthy tissue as if it were a foreign body. PGA I is characterized by the presence of two or three endocrine diseases and Candidiasis. PGA II is defined as having autoimmune thyroid disease and Addisons Disease and/or Insulin-Dependent Diabetes without Candidiasis or Hypoparathyroidism. PGA III is characterized by patients who have autoimmune thyroid disease and any other autoimmune disease, but they do not have Addisons Disease. Causes APECED Syndrome results from autosomal recessive genetic transmission. The disease develops most often in persons of Finnish decent. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population APECED Syndrome affects persons of all ages. It usually begins in childhood but can develop as late as the fifth decade. The syndrome affects males and females in equal numbers. The disease is very rare occuring in only about 170 persons world wide. However, the majority of the affected persons live in Finland. Related Disorders Symptoms of the following disorders can be a component of APECED Syndrome: Addison's Disease is a disorder characterized by chronic and insufficient functioning of the cortex (outer layer) of the adrenal gland. This malfunction results in a deficiency of the hormone aldosterone. Aldosterone is a hormone that regulates the salt and water balance in the body. Patients's with Addison's Disease show abnormally high concentrations of potassium and abnormally low concentrations of sodium in the blood. These changes in electrolyte balance produce low blood pressure and an increase of water excretion that can lead to severe dehydration. (For more information on this disorder, choose "Addison's" as your search term in the Rare Disease Database). Hypoparathyroidism is a disorder that causes lower than normal levels of calcium and phosphate in the blood due to insufficient levels of parathyroid hormones. It is characterized by weakness, muscle cramps, and abnormal sensations such as tingling, burning and numbness of the hands. Excessive nervousness, loss of memory, headaches and uncontrollable cramping muscle movements of the wrists and feet may also occur. (For more information on this disorder, choose "Hypoparathyroidism" as your search term in the Rare Disease Database). Candidaisis is a normally harmless yeast infection which occurs in the mouth, intestinal tract, skin, nails, and genitalia. It is caused by a fungus called Candida Albicans. Candida infections are rarely serious in otherwise healthy people. In rare cases it may spread through other parts of the body if the patient's immune system is not functioning properly. (For more information on this disorder, choose "Candidiasis" as your search term in the Rare Disease Database). The Ectodermal Dysplasias are a group of hereditary, non-progressive syndromes in which the affected tissue derives from the ectodermal germ layer. The skin, hair follicles, nails, teeth, and sweat glands are most commonly affected. The numerous syndromes are various combinations of defects that occur in the different areas of the body. (For more information on this disorder, choose "Ectodermal Dysplasia" as your search term in the Rare Disease Database). Therapies: Standard Treatment of APECED Syndrome is directed toward the specific diseases that are apparent in each patient. Addison's disease is treated with drugs such as hydrocortisone and fludrocortisone to replace the cortisol and aldosterone that are missing in Addison's patients. Hypoparathyroidism is treated with calcium, ergocalciferol or dihydrotachysterol (forms of Vitamin D). In Chronic Mucocutaneous Candidiasis, amphotericin B, mystatin, clotrimazole, miconizole or 5-fluorocytosine are useful drugs. There is no known cure for Ectodermal Dysplasia. Treatment is directed at symptoms. Over the counter creams may relieve skin discomfort. Dentures, hearing aids, etc., may be required. Heat and over-exercise are to be avoided due to impaired sweating. Cleft lip and palate, syndactyly, and other limb deformations are treated by surgery. Genetic counseling is important for patients with APECED and for their relatives, especially if the patient is of Finnish decent. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1991. 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 Resources section for the most current information about this disorder. Resources National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE National Foundation for Ectodermal Dysplasias 219 E. Main St. Mascoutah, IL 62258 (618) 566-2020 The National Adrenal Disease's Foundation, Inc. 505 Northern Blvd., Suite 200 Greatneck, NY 11021 (516) 487-4992 The Endocrine Society 9650 Rockville Pike Bethesda, MD 20205 (301) 530-9660 National Digestive Diseases Information Clearinghouse P.O. Box NDDIC Bethesda, MD 20892 (301) 468-6344 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1263-1264. CLINICAL VARIATION OF AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS- ECTODERMAL DYSTROPHY (APECED), P. Ahonen, et al,; N Eng J Med, (June 28, 1990, issue 322 (26)). Pp. 1829-1836. AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDOSIS-ECTODERMAL DYSTROPHY (APECED): AUTOSOMAL RECESSIVE INHERITANCE., P. Ahone, Glin Genet, (June 27, 1985, issue (6)). Pp. 535-542.