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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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Persistent hoarseness of voice in a sarcoid patient: a clue to laryngeal sarcoidosis; a potential cause of upper airway obstruction
From CHEST, 10/1/05 by Vijay A. Rupanagudi

INTRODUCTION: Sarcoidosis is a multi-system disorder with lung as the prime target organ. Laryngeal involvement is seen in only 0.5% to 8.3% of patients and if unrecognized and untreated may progress to upper airway obstruction. Hoarseness is the usual early symptom. We describe a patient with sarcoidosis of 13 years duration, who complained of hoarseness for 2 years and was found to have laryngeal sarcoidosis with upper airway obstruction.

CASE PRESENTATION: A 41-year-old non smoking Hispanic female complained of hoarseness of voice for 2 years and was treated for allergic rhinitis for 9 months with no benefit. She also received multiple courses of antibiotics for presumed upper respiratory tract infection and received high dose proton pump inhibitors for 12 months with no effect on hoarseness. Sarcoidosis was diagnosed 13 years ago when chest radiograph showed bilateral hilar lymphadenopathy and transbronchial biopsy revealed non-caseating granuloma. Her disease was characterized by hypercalcemia, hypercalciuria with multiple renal calculi, high angiotensin converting enzyme levels and generalized lymphadenopathy (with non-caseating granuloma on lymph node biopsy). 8 years ago, she was treated with steroids for one year for hypercalcemia and renal calculi. Spirometry and flow, volume loops 5 years ago were normal. Examination did not reveal stridor or generalized lymphadenopathy. Spirometry was normal. Flow volume loop showed decrease in peak inspiratory and expiratory flow rates and plateauing of both expiratory and inspiratory loops suggestive of fixed upper airway obstruction. Rigid laryngoscopy under general anesthesia revealed narrowed glottic area and vocal cord rigidity suggestive of an infiltrative process. Biopsies from glottic area, anterior commisure and subglottic area showed granulomatous inflammation consistent with sarcoidosis. AFB was smear negative and bacterial, mycobacterial and fungal cultures were all negative. A diagnosis of laryngeal sarcoidosis with upper airway obstruction was made. 3 months of oral steroids treatment, resulted in marked improvement in hoarseness and flow volume loops. See figures.

DISCUSSIONS: Laryngeal involvement has been described in 0.5 to 8.3% of patients with sarcoidosis. It is usually associated with multi-system involvement and only rarely presents as isolated laryngeal disease. Supraglottic and subglottic areas are usually affected and primary vocal cord involvement is rare. The most common presenting features are hoarseness and stridor. Less common symptoms include dysphagia and cough. Laryngoscopy findings include mucosal alterations with erythema and edema, punctate nodules, and mass lesions. The epiglottis is the most frequently affected area, but any portion of the larynx may be involved. Vocal cord dysfunction by direct involvement or Vocal coroparalysis by involvement of the neural pathways, including the nucleus ambiguous, the 10th cranial nerves, and the superior and recurrent laryngeal nerves have also been described. The diagnosis is established by demonstrating granulomatous inflammation on laryngeal biopsy and excluding other causes of granulomatous laryngitis. Treatments used for laryngeal sarcoidosis have included systemic steroids, intralesional steroids, laser resection, surgical excision, low-dose radiation and tracheotomy. Improvement with use of inhaled steroids and Clofazimine (an anti-leprosy agent) has been reported.

CONCLUSION: In patients with sarcoidosis, persistent hoarseness should prompt an evaluation for laryngeal sarcoidosis by laryngoscopy. Early detection and treatment may prevent development of upper airway obstruction.

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REFERENCES:

(1) Gallivan GJ, Landis JN. Sarcoidosis of larynx: preserving and restoring airway and professional voice. J Voice 1993;7:81-94,

(2) Neel HB III, McDonald TJ. Laryngeal Sarcoidosis. Report of 13 patients. Ann Otol Rhinol Laryngol 1982;91:359-62

(3) Bower JS, Belen JE, Weg JG, Dantzker DR. Manifestations and treatment of laryngeal sarcoidosis. Am Rev Respir Dis. 1980;122(2): 325-332.

DISCLOSURE: Vijay Rupanagudi, None.

Vijay A. Rupanagudi MD * Kartikeyan Kanagarajan MD Suriya Jayawardena MD Muhammad U. Rehman MD Rashmikant Doshi MD Padmanabhan Krishnan MD Coney Island Hospital, Brooklyn, NY

COPYRIGHT 2005 American College of Chest Physicians
COPYRIGHT 2005 Gale Group

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