Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.15.1 (ACE)
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Sarcoidosis is a multisystem granulomatous disease with an unknown etiology, characterized by the presence of noncaseating granulomas in involved organs. It has a worldwide prevalence, but variable incidence among different geographical regions. The disease affects adults between 20 and 40 years of age, and it is slightly more common in women than men. Sarcoidosis is 3 to 4 times more prevalent in US blacks than whites. It usually presents with bilateral hilar adenopathy, pulmonary infiltrates and skin or eye involvement. The eye or adnexa are affected in 25 to 80% of the sarcoidosis patients. The disease can involve the orbit, lacrimal gland, anterior and posterior segments of the eye. Typical sarcoid uveitis presents with bilateral mutton-fat keratic precipitates, cells, flare, iris nodules, anterior and posterior synechia, and increased ocular pressure. Posterior involvement includes vitreitis, vasculitis, choroidal lesions, and optic neuropathy. Long term complications are common, and cystoid macular edema is the most important and sight-threatening consequence. Laboratory tests for the diagnosis of sarcoidosis include chest radiography or CT scan, bronchoscopy with bronchoalveolar lavage, angiotensin converting enzyme (ACE), Lysozyme, serum and urinary calcium, gallium scintigraphy, and biopsy. The only confirmatory test is biopsy showing classic noncaseating granulomas. Oral corticosteroids are the mainstay of treatment of sarcoidosis. Systemic cytotoxic agents like methrotrexate, azathioprine, and chlorambucil may be used in refractory cases. The visual prognosis of sarcoidosis is usually good.
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PMID:Sarcoidosis. 1628 52

Uveitis is a common (20-50%) and early manifestation of sarcoidosis. Typical sarcoid uveitis presents with bilateral mutton fat keratic precipitates, iris nodules, and anterior and posterior synechia. Posterior involvement includes vitreitis, vasculitis and choroidal lesions. Long-term complications are common, and cystoid macular edema is the most important and sight-threatening consequence. Diagnostic work-up of sarcoidosis usually includes chest radiography or computed tomography scan, bronchoscopy with bronchoalveolar lavage, angiotensin converting enzyme, lysozyme, gallium scintigraphy and biopsy. The gold standard for the diagnosis of sarcoidosis should be obtained with histologic examination. However, an international workshop has recently established diagnostic criteria of "intraocular sarcoidosis" (sarcoidosis uveitis) on the basis of a combination of suggestive ophthalmological findings and laboratory tests, when biopsy is not performed or is negative. More recent techniques such as PET-scan and endoscopic ultrasound-guided fine-needle biopsy of intrathoracic nodes should be assessed in future prospective studies. Corticosteroids are the mainstay of treatment. Anterior and unilateral intermediate or posterior uveitis are usually treated with topical corticosteroids. Systemic corticosteroids are indicated in uveitis not responding to topical corticosteroids or in the presence of bilateral posterior involvement, especially with macular edema and occlusive vasculitis. In 5 to 20% of the patients who are corticosteroids resistant or require an unacceptable dose to maintain remission, additional immunosuppression is used, including methotrexate, leflunomide and mycophenolate mofetil. As in systemic sarcoidosis, infliximab has been recently suggested for refractory or sight threatening disease.
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PMID:[Sarcoid uveitis: Diagnostic and therapeutic update]. 2097 Feb 26