$Unique_ID{BRK04104} $Pretitle{} $Title{Pheochromocytoma} $Subject{Pheochromocytoma Chromaffin Cell Tumor Adrenal Tumor Sipple's Syndrome Neurofibromatosis (von Recklinghausen's Disease) von Hippel-Lindau Disease} $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 533: Pheochromocytoma ** IMPORTANT ** It is possible that the main title of the article (Pheochromocytoma) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article. Synonyms Chromaffin Cell Tumor Adrenal Tumor Information on the following diseases can be found in the Related Disorders section of this report: Sipple's Syndrome Neurofibromatosis (von Recklinghausen's Disease) von Hippel-Lindau Disease 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. Pheochromocytoma is a rare disorder caused by tumors in the adrenal glands. It may or may not be a genetically-caused disorder. It is characterized by high blood pressure which does not respond to ordinary treatment. Symptoms Major symptoms of Pheochromocytoma may include high blood pressure, rapid breathing and heart beat, profuse sweating, flushed, cold and clammy skin, and severe headache. Angina (pain in the heart), palpitations of the heart, nausea, vomiting, stomach pain, visual disturbances, tingling sensations, constipation and an abnormal sense of impending doom may also occur. Causes Pheochromocytoma is caused by the development of tumors in the adrenal glands. The tumors may also develop along certain nerve pathways. This disorder may appear for no apparent reason or in some cases may be inherited through an autosomal dominant gene with incomplete penetrance. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Incomplete penetrance means that all characteristics of a particular trait may not be manifested in all those who inherit the gene). Affected Population Pheochromocytoma affects males and females in equal numbers. People of any age can be affected, but symptoms usually appear before fifty years of age. Related Disorders Symptoms of the following disorders can be similar to those of Pheochromocytoma. Comparisons may be useful for a differential diagnosis: Sipple's Syndrome is characterized by adrenal tumors associated with tumors of other endocrine glands such as thyroid and parathyroid. Neurofibromatosis (von Recklinghausen Disease) is a genetic disorder with highly variable manifestations which can affect many body systems. The disease is characterized by multiple nerve tumors under the skin which can result in disfigurement, and other complications. (For more information on this disorder, choose "Neurofibromatosis " as your search term in the Rare Disease Database). von Hippel-Lindau Disease is an hereditary disorder characterized by headache, dizziness and failure of muscular coordination. Uncontrollable high blood pressure, the presence of tumors in the adrenal glands (pheochromocytoma) and abnormalities in the blood vessels of the retina may also occur. ( For more information on this disorder, choose "von Hippel" as your search term in the Rare Disease Database.) Therapies: Standard Diagnosis of Pheochromocytoma may be confirmed through urine testing, lack of responsiveness to drug treatment of the high blood pressure, and magnetic resonance imaging (MRI). This fairly new technique has proven superior to the use of x-rays for soft tissue diagnosis. Treatment of Pheochromocytoma usually involves the surgical removal of the tumor. Other treatment is symptomatic and supportive. Genetic counseling may be indicated in some cases when Pheochromocytoma occurs in families. Therapies: Investigational This disease entry is based upon medical information available through October 1989. 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 For more information on Pheochromocytoma, 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 505 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. 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 LOCALIZATION OF ECTOPIC PHEOCHROMOCYTOMAS BY MAGNETIC RESONANCE IMAGING: J.E. Schmedt, et al.; Am J Med ( October, 1987: issue 83 (4)). Pp. 770-772. CLINICALLY UNSUSPECTED PHEOCHROMOCYTOMAS. EXPERIENCE AT HENRY FORD HOSPITAL AND A REVIEW OF THE LITERATURE: N.K. Krane; Arch Intern Med (January, 1986: (issue 146 (1)). Pp. 54-57. DIAGNOSIS AND MANAGEMENT OF PHEOCHROMOCYTOMA: G.W. Gifford, et al.; Cardiology (1985; 72 Suppl. 1). Pp. 126-130. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 557-559, 1962-1966, 2302