$Unique_ID{BRK04206} $Pretitle{} $Title{Sarcoidosis} $Subject{Sarcoidosis Besnier-Boeck Schaumann Disease Boeck Sarcoid Hutchinson-Boeck Syndrome Benign Lymphogranulamatosis Schaumann Syndrome Lupus Pernio Uveoparotid Fever } $Volume{} $Log{} Copyright (C) 1986, 1992, 1993 National Organization for Rare Disorders, Inc. 215: Sarcoidosis ** IMPORTANT ** It is possible the main title of the article (Sarcoidosis) is not the name you expected. Please check the SYNONYMS listing on the following page to find the alternate names and disorder subdivisions covered by this article. Synonyms Besnier-Boeck Schaumann Disease Boeck Sarcoid Hutchinson-Boeck Syndrome Benign Lymphogranulamatosis Schaumann Syndrome Lupus Pernio Including Uveoparotid Fever 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. Sarcoidosis is a disorder which affects many body systems. It is characterized by small round lesions (tubercles) of granulation tissue. Symptoms may vary depending on the severity of the disease and how much of the body is affected. Symptoms Symptoms of Sarcoidosis depend on the site of involvement and may be absent, slight, or severe. Function may be impaired by the active granulomatous disease or by secondary fibrosis. Fever, weight loss, and arthralgias (joint pain) may be initial manifestations. Persistent fever is especially common with liver (hepatic) involvement. Peripheral lymphadenopathy (enlarged lymph glands) is common and usually asymptomatic. Both enlarged and normal-sized lymph nodes may contain the characteristic sarcoid tubercles. The lymph glands between the two lungs are often affected and may be seen during routine chest x-rays. Disease of the right lymph nodes next to the trachea is common in this disorder. Lymph gland involvement is occasionally unilateral. Diffuse lung infiltration may accompany or follow lymph gland involvement; this infiltration may have a diffuse fine ground-glass appearance on the x-ray, and may occur as reticular (resembling a net) or miliary (resembling a millet seed) lesions. They may also resemble metastatic tumors. Pulmonary involvement is usually characterized by cough and difficulty in breathing (dyspnea), but these symptoms may be minimal or even absent. Pulmonary fibrosis, cystic changes, and cor pulmonale (heart disease due to pulmonary hypertension) may occur as a result of long-standing progressive disease. Skin lesions (i.e., plaques, papules, subcutaneous nodules) frequently are present in patients with severe chronic Sarcoidosis. Granulomas of the nasal mucous membranes and the conjunctiva may occur. An acute inflammatory skin disease marked by tender red nodules (erythema nodosum) with fever and pain in the joints (arthralgias) is a frequent manifestation of Sarcoidosis. Liver (hepatic) granulomas are found in 70% of patients examined by liver biopsy, even if they are asymptomatic and have normal liver function tests. An enlarged liver (hepatomegaly) is noted in fewer than 20% of patients. Progressive and severe hepatic dysfunction with enlarged or tortuous veins (esophageal varices and portal vein hypertension) is rare. Granulomatous inflammation of the vascular middle layer of the eye occurs in 15% of cases; it is usually bilateral, and may result in severe loss of vision from secondary glaucoma if untreated. Inflammation of the tissues around the veins in the retina (retinal periphlebitis), tear gland enlargement, conjunctival infiltrations, and dry inflammation of the cornea (keratitis sicca) occasionally are present. Myocardial involvement may cause angina, congestive heart failure, or severe conduction abnormalities. Acute polyarthritis may be prominent. Central nervous system (CNS) involvement can be of almost any type, but cranial nerve palsies, especially facial paralysis, are most common. Diabetes insipidus may also occur. An excess of calcium in the blood (hypercalcemia) and an excess of calcium in the urine (hypercalciuria) may cause kidney stones or precipitated calcium phosphate in kidney tubules (nephrocalcinosis) with consequential renal failure. Prednisone therapy has reduced the frequency and adverse effects of disordered calcium metabolism in patients with Sarcoidosis. Laboratory findings include the following characteristics. A decrease in white blood cells (leukopenia) frequently is present. An abnormally high globulin content of the blood (hyperglobulinemia) is common among black people with Sarcoidosis. Elevated serum uric acid is not uncommon, but gout is rare. Serum alkaline phosphatase may be elevated as a result of liver involvement. Depression of delayed hypersensitivity is characteristic, but a negative second-strength tuberculin reaction is useful in excluding a complicating tuberculosis. Pulmonary function tests show restriction, decreased compliance (yielding to pressure or force without disruption), and impaired diffusing capacity of the lungs. Carbon dioxide retention is uncommon since ventilation rarely is obstructed except in patients with endobronchial disease or severe pulmonary fibrosis. Serial measurements of pulmonary function are a guide to treatment and to the course of the disease. Causes The cause of Sarcoidosis is not known. A single provoking agent such as a slow virus, or disordered defense reactions triggered by a variety of agents may be responsible. Genetic factors may be important. Recent studies indicate that M. tuberculosis may be involved in the development of Sarcoidosis. It is felt that the disease may be caused by a form of M. tuberculosis that has no cell wall and as a result is not susceptible to the usual TB therapy. Affected Population Sarcoidosis occurs predominantly between the ages and 20 and 40 years. It is most common among people of northern European ancestry and American Blacks. Therapies: Standard Treatment of Sarcoidosis is symptomatic and supportive. Corticosteroids often relieve symptoms, improve physiologic disturbances and reduce x-ray changes. Corticosteroid therapy should be given to suppress troublesome or disabling symptoms such as difficulty breathing (dyspnea), severe pain in the joints (arthralgia), and fever; it should be begun promptly if active eye disease, respiratory failure, liver insufficiency, cardiac arrhythmia, central nervous system involvement, or hypercalcemia is present. Prednisone therapy is required by 1/2 of white patients and 2/3 of black patients with this disorder. Prednisone is given orally, and the treatment may be necessary for weeks, years, or, in some cases, indefinitely. Low maintenance doses are surprisingly effective in controlling symptoms. Clinical examinations, x-rays, and pulmonary function studies should be made at frequent intervals when dosage is being reduced or medication is terminated. Serious complications of corticosteroid therapy are infrequent when low doses are used for treatment of Sarcoidosis. A tuberculostatic antibacterial agent (isoniazid) therapy is indicated only for the few patients given corticosteroids who have positive tuberculin skin tests. Methotrexate (a folic acid antagonist) and chlorambucil (a cytotoxic alkylating agent) occasionally are effective in treatment of Sarcoidosis, but dramatic improvement with these medications is rare. They should be tried only when corticosteroids fail to improve the condition or are contraindicated. Therapies: Investigational Clinical trials are underway to study bronchoalveolar lavage in Interstitial Lung Disease. Interested persons may wish to contact: Gary W. Hunninghake, M.D. Dept. of Internal Medicine University of Iowa Iowa City, IA 52242 (319) 356-4187 to see if further patients are needed for this research. 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 Sarcoidosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Sarcoidosis Resource Center P.O. Box 1593 Piscataway, NJ 08855-1593 (908) 699-0733 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 252. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 360-1, 451-7.