$Unique_ID{BRK03722} $Pretitle{} $Title{Erdheim-Chester Disease} $Subject{Erdheim-Chester Disease Lipid Granulomatosis Xanthogranulomatosis Generalized Visceral Xantho-Granulomatosis Lipid Storage Disease Polyostotic Sclerosing Histiocytosis ECD Histiocytosis-X Wegener's Granulomatosis Granulomatous Disease Chronic Granulomatosis Lymphomatoid} $Volume{} $Log{} Copyright (C) 1993 National Organization for Rare Disorders, Inc. 943: Erdheim-Chester Disease ** IMPORTANT ** It is possible that the main title of the article (Erdheim-Chester Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Lipid Granulomatosis Xanthogranulomatosis, Generalized Visceral Xantho-Granulomatosis Lipid Storage Disease Polyostotic Sclerosing Histiocytosis ECD Information on the following diseases can be found in the Related Disorders section of this report: Histiocytosis-X Wegener's Granulomatosis Granulomatous Disease, Chronic Granulomatosis, Lymphomatoid 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. Erdheim-Chester Disease is an extremely rare lipid storage disorder. It is characterized by hardening of the growth areas of the long bones of the body. Fatty-like (lipid) cell deposits (histiocytes) are found in various vital organs of the body such as: heart, lungs, the lining of the abdominal cavity (peritoneum), the kidneys, and other tissues. Severity of the disease differs with each patient. Symptoms Erdheim-Chester Disease effects the growth areas of the long bones of the body. Bones harden because of the abnormal deposits of fatty-like nodular cellular material (lipid granulomatous histiocytes). The lipid may infiltrate various organs of the body causing problems in the heart, kidneys, liver, lungs, and rarely the eyes. The abnormal lipid deposits may cause the infiltrated organ to cease functioning properly resulting in very serious consequences. Abnormal deposits of granulomatous material in the heart results in abnormal heart function (cardiomyopathy). If material is deposited in the lungs, severe lung disease occurs, and in the kidneys it will cause chronic renal failure. Blindness can result if the eyes are effected. Other organs that can be effected include the liver, spleen, thyroid, skin and gums. Causes The exact cause of Erdheim-Chester Disease is unknown. Symptoms are caused by the abnormal deposits of fatty-like (lipid) granulomatous material in various body systems. The lipid material effects bone growth and organ functioning. If left untreated, the disorder can be life-threatening. Affected Population Erdheim-Chester Disease is a very rare disorder that effects males and females in equal numbers. There have been approximately thirty cases mentioned in the medical literature. Persons of all ages and nationalities are effected. Related Disorders Symptoms of the following disorders can be similar to those of Erdheim- Chester Disease. Comparisons may be useful for a differential diagnosis: Histiocytosis-X is a group of disorders characterized by the abnormal accumulation of a specific type of tissue cell (histiocytes) in various organs. The type of damage depends on the size and location of the growths. The bones, skin, liver, spleen, lungs, and brain are most commonly affected. (For more information on this disorder, choose "Histiocytosis-X" as your search term in the Rare Disease Database.) Wegener's Granulomatosis is an uncommon collagen vascular disorder that begins as a localized inflammation of the upper and lower respiratory tract and usually progresses into generalized inflammation of the blood vessels (vasculitis) and kidneys. (For more information on this disorder, choose "Wegener" as your search term in the Rare Disease Database.) Chronic Granulomatous Disease, is characterized by the widespread development of granulomatous lesions of the skin, lungs, and lymph nodes. Evidence of chronic infections may be seen in the liver, stomach, brain, and eyes. (For more information on this disorder, choose "Chronic Granulomatous Disease" as your search term in the Rare Disease Database.) Lymphomatoid Granulomatosis is a progressive disease that can lead to destruction of the veins and arteries by nodular lesions. It can effect the lungs, skin, kidneys or central nervous system. (For more information on this disorder, choose "Lymphomatoid Granulomatosis" as your search term in the Rare Disease Database.) Therapies: Standard Erdheim-Chester Disease is usually treated with corticosteroid drugs and chemotherapy (vinblastine and doxorubicin). A diagnosis is made through bone biopsy and x-ray or magnetic resonance imaging (MRI) scans. Therapies: Investigational This disease entry is based upon medical information available through May 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 Resources section for the most current information about this disorder. Resources For more information on Erdheim-Chester Disease, please contact: National Organization for Rare Disorders (NORD) P.O. ox 8923 New Fairfield, CT 06812 (203) 746-6518 National Arthritis, Musculoskeletal & Skin Diseases (NIAMS) Clearinghouse Box OX AMS Bethesda, MD 20892 (301) 468-3235 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1022-1023, 1286-1287. ERDHEIM-CHESTER DISEASE. CASE REPORT AND REVIEW OF THE LITERATURE. R.L. Miller, et al.; Am J Med, June, 1986, (issue 80 (6)). Pp. 1230-1236. ORBITAL AND EYELID INVOLVEMENT WITH ERDHEIM-CHESTER DISEASE. A REPORT OF TWO CASES. J.A. Shields, et al.; Arch Ophthalmol, June, 1991, (issue 109 (6)). Pp. 850-854. ERDHEIM-CHESTER DISEASE. CASE REPORT WITH AUTOPSY FINDINGS. M.G. Fink, et al.; Arch Pathol Lab Med, June, 1991, (issue 115 (6)). Pp. 619-623. PREMATURE ALVEOLAR BONE LOSS IN ERDHEIM-CHESTER DISEASE. I.H. Valdez, et al.; Oral Surg Oral Med Oral Pathol, September, 1990, (issue 70 (3)). Pp. 294-296.