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$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.