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Sarcoidosis

Sarcoidosis is an immune system disorder characterised by non-necrotising granulomas (small inflammatory nodules). Virtually any organ can be affected, however, granulomas most often appear in the lungs (D860) or the lymph nodes (D861). more...

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Symptoms can occasionally appear suddenly but more often than not appear gradually. When viewing X-rays of the lungs, sarcoidosis can have the appearance of tuberculosis or lymphoma.

Epidemiology

Sarcoidosis occurs throughout the world in any race. It is more commonly seen in blacks than whites, primarily people of northern European descent in the latter case. Pulmonary involvement is the most common presentation of sarcoidosis.

Signs and symptoms

Sarcoidosis is a systemic disease that can affect any organ. Common symptoms are vague, such as fatigue unchanged by sleep, lack of energy, aches and pains, dry eyes, blurry vision, shortness of breath, a dry hacking cough or skin lesions. The cutaneous symptoms are protean, and range from rashes and noduli (small bumps) to erythema nodosum or lupus pernio.

The combination of erythema nodosum, bilateral hilar lymphadenopathy and arthralgia is called Lofgren syndrome. This syndrome has a relatively good prognosis.

Renal, liver, heart or brain involvement may cause further symptoms and altered functioning. Manifestations in the eye include uveitis and retinal inflammation, which may result in loss of visual acuity or blindness. Sarcoidosis affecting the brain or nerves is known as neurosarcoidosis.

The combination of anterior uveitis, parotitis and fever is called Heerfordt-Waldenstrom syndrome. (D868)

Hypercalcemia (high calcium levels) and its symptoms may be the result of excessive vitamin D production.

Sarcoidosis most often manifests as a restrictive disease of the lungs, causing a decrease in lung volume and decreased compliance (the ability to stretch). The vital capacity (full breath in, to full breath out) is decreased, and most of this air can be blown out in the first second. This means the FEV1/FVC ratio is increased from the normal of about 80%, to 90%.

Causes and pathophysiology

No direct cause of sarcoidosis has been identified, although there have been reports of cell wall deficient bacteria that may be possible pathogens. These bacteria are not identified in standard laboratory analysis. It has been thought that there may be a hereditary factor because some families have multiple members with sarcoidosis. To date, no reliable genetic markers have been identified, and an alternate hypotheses is that family members share similar exposures to environmental pathogens. There have also been reports of transmission of sarcoidosis via organ transplants.

Sarcoidosis frequently causes a dysregulation of vitamin D production; extrarenal (outside the kidney) production can be marked. Production of vitamin D goes on outside the kidneys. This results in elevated levels of the hormone 1,25-dihydroxyvitamin D and symptoms of hypervitaminosis D that may include fatigue, lack of strength or energy, irritability, metallic taste, temporary memory loss or cognitive problems. Physiological compensatory responses (e.g. suppression of the parathyroid hormone levels) may mean the patient does not develop frank hypercalcemia.

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CT-guided transthoracic needle biopsy of sarcoidosis
From CHEST, 10/1/05 by Alisa Johnson

PURPOSE: To determine the utility, sensitivity and complication rate of CT-guided transthoracic needle aspiration and core biopsy for sampling enlarged hilar and mediastinal lymph nodes in patients with presumptive sarcoidosis.

METHODS: A retrospective review of all transthoracic needle biopsies performed at one institution from 1995-present for diagnosis of enlarged hilar or mediastinal lymph nodes thought to reflect sarcoidosis and either 1) symptoms requiring definitive diagnosis for treatment or 2) a history of malignancy where metastatic disease was a differential diagnostic consideration.

RESULTS: 28 patients, age range 34-74, males = 13, females = 15, underwent CT-guided aspiration (n=28) and core (n=19) biopsy using an extrapleural approach when possible. 9 patients had a history of prior or concurrent malignancy. Using a combination or cytologic and histologic material, a diagnosis of sarcoidosis and exclusion of malignancy was possible in all patients (sensitivity = 100%). 8/28 patients (28%) developed a postbiopsy pneumothorax, with 2 (7%) requiring small bore catheter drainage and one patient with self-limited hemoptysis.

CONCLUSION: CT-guided transthoracic needle biopsy, using a combination of aspiration and core biopsy techniques, has a high yield and acceptable complication rate for the diagnosis of sarcoidosis presenting with enlarged mediastinal and hilar lymph nodes.

CLINICAL IMPLICATIONS: This minimally-invasive technique can provide definitive pathologic diagnosis of sarcoidosis in patients with enlarged mediastinal and hilar lymph nodes, confidently excluding malignancy and obviating the need for further invasive diagnostic procedures.

DISCLOSURE: Alisa Johnson, None.

Alisa Johnson BA * Jeffrey S. Klein MD Santiago Miro MD University of Vermont College of Medicine, Burlington, VT

COPYRIGHT 2005 American College of Chest Physicians
COPYRIGHT 2005 Gale Group

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