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, favourited this 1 Years ago.
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CASE PRESENTATION By Dr Hilal Ahmad
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HISTORY 65years old kuwaiti female Known case of hypertension on zestril Diabetes mellitus on Glucophage and Amaryl Dyslipidemia on Zocor
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CHIEF COMPLAINTS: Bilateral Facial palsy 2 weeks No H/O headache vomiting fever cough anorexia wt loss dysphagia , dysarthia, diplopia, seizures weakness of any side
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ON EXAMINATION: conscious, oriented afebrile, hemodynamically stable SYSTEMIC EXAMINATION: chest > CVS > Unremarkable P/A > CNS> HMF normal Bilateral facial palsy (LMN) Other cranial nerves intact Tone, Power, Reflexes, sensations normal Fundus normal
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INVESTIGATIONS: CBC: Chemistry: 24 hr urinary calcium: normal Serum ACE levels: 3.7 ( WNL) ESR=15 ANA : normal Anti-dsDNA : normal Serum and urine electrophoresis : normal
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MRI brain: small vessel ischemic changes USG: normal EMG and NCV: bilateral facial nerve palsy carpel tunnel syndrome CECT Chest: multiple perivascular, pretracheal, aortopulmonary enlarged lymph nodes
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DIFFERENTIAL DIAGNOSIS: SARCOIDOSIS LYMPHOMA MULTIPLE SCLEROSIS GBS BILATERAL BELLS PALSY
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SARCOIDOSIS Multisystem disease Noncaseating granulomas. Granulomas is not specific for sarcoidosis, other conditions must be ruled out. Sarcoidosis is seen worldwide, with the highest prevalence in the Nordic population. More common in blacks than whites. More common in women than men. prevalence varies from 20–60 per 100,000.
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The lung is most commonly affected. Other organs commonly affected are the liver, skin, and eye. The clinical outcome of sarcoidosis varies, with remission occurring in over half the patients within a few years of diagnosis. however, the remaining patients develop a chronic disease that lasts for decades. often occurs in young, otherwise healthy adults between 20 40 years of age small second peak in incidence develops around age 60. most cases are sporadic, 5% are familial.
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AETIOPATHOGENESIS: The cause of sarcoidosis remains unknown. Currently, the most likely etiology is an infectious or noninfectious environmental agent that triggers an inflammatory response in a genetically susceptible host. Among the possible infectious agents are Propionibacter acne and atypical mycobacterium. Environmental exposures to insecticides and mold have been associated with an increased risk for disease.
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The presentation of sarcoidosis ranges from patients who are asymptomatic to those with organ failure. One third of sarcoidosis patients are asymptomatic. Cough and dyspnea are the most common presenting symptoms. The diagnosis of sarcoidosis is usually only suggested when a chest XRAY is performed. Symptoms related to cutaneous and ocular disease are the next two most common complaints. Nonspecific constitutional symptoms include fatigue, fever, night sweats, and weight loss.
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LUNG Lung involvement occurs in >90% of patients. The most commonly used method for detecting lung disease is still the chest roentgenogram. Usually upper lobe infiltrates. Can have both restrictive or obstructive lung disease 5% of patients develop PAH due to direct vascular involvement or the consequence of fibrotic changes.
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SKIN Skin involvement is seen in one third of patients erythema nodosum, maculopapular lesions hyper- and hypopigmentation, keloid formation subcutaneous nodules. lupus pernio is diagnostic for a chronic form of sarcoidosis
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EYE In Japan, >70% of sarcoidosis patients develop ocular disease, while in the United States only 30% have eye disease Anterior uveitis ( most common) posterior uveitis, including retinitis and pars planitis. some asymptomatic patients still have active inflammation. it is recommended that all patients with sarcoidosis receive a dedicated ophthalmologic examination.
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LIVER The most common abnormality of liver function is an elevation of the alkaline phosphatase level, consistent with an obstructive pattern. Liver biopsy reveals granuloma in 50% patients. An elevated bilirubin level is a marker for more advanced liver disease. Extensive intrahepatic cholestasis leading to portal hypertension, ascites and esophageal varices. Patients with both sarcoidosis and hepatitis C should avoid therapy with interferon because of its association with the development or worsening of granulomatous disease.
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BONE MARROW and SPLEEN The most common hematologic problem is lymphopenia, which is a reflection of sequestration of the lymphocytes into the areas of inflammation. Anemia occurs in 20% of patients and leukopenia is less common. Bone marrow examination will reveal granulomas in about a third of patients. Splenomegaly can be detected in 5–10% of patients, but splenic biopsy reveals granulomas in 60% of patients.
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Calcium Metabolism Hypercalcemia and/or hypercalciuria occurs in about 10% of patients. The mechanism is increased production of 1,25-dihydroxyvitamin D by the granuloma itself. Increased exogenous vitamin D from diet or sunlight exposure may exacerbate this problem. Renal Disease Direct kidney involvement occurs in <5% of patients. Hypercalcemia is the most likely cause of renal disease. 1–2% develop acute renal failure as a result of hypercalcemia.
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NERVOUS SYSTEM 5–10% develop Neurologic disease. Any part of the central or peripheral nervous system can be affected. space-occupying lesion. lymphocytic meningitis seventh nerve paralysis ,Optic neuritis , myelopathy, diabetes insipidus, Seizures and cognitive changes also occur Differentiating between neurosarcoidosis and multiple sclerosis can be difficult at times. The presence of meningeal enhancement, hypothalamic involvement and extraneurologic disease will suggests sarcoidosis.
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CARDAIC presents as either congestive heart failure or cardiac arrhythmias. infiltration of the heart muscle by granulomas. If the AV node is infiltrated, heart block can occur. Patients with significant ventricular arrhythmias should be considered for an implanted defibrillator, which reduces the rate of death in cardiac sarcoidosis. MUSCULOSKELETAL SYSTEM Direct granulomatous bone and muscle involvement is seen in about 10% of patients.
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COMPLICATIONS Sarcoidosis is usually a self-limited, non-life-threatening disease. However, organ-threatening disease can occur. These complications can include blindness, paraplegia, or renal failure. The usual causes of death related to sarcoidosis are from lung, cardiac, neurologic, or liver involvement. In respiratory failure, an elevation of the right atrial pressure is a poor prognostic finding
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DIGNOSIS: features suggesting sarcoidosis chest x-ray ( adenopathy) skin lesions Hypercalcemia, , seventh nerve palsy, , uveitis Boipsy ( affected organ) bronchoscopy Biopsy ( granuloma) Clinically consistent with sarcoidosis negative positive Serum ACE level > 2 times normal BAL lymphocytosis >2 times normal Panda/lambda sign on gallium scan sarcoidosis Possible sarcoidosis, seek other diagnosis sarcoidosis yes NO NO YES Patient referred for possible sarcoidosis
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MANAGEMENT OF SARCOIDOSIS ABNORMALIES OF NEUROLOGIC, CARDIAC, OCULAR, CALCIUM SINGLE ORGAN DISEASE NO,NO THERAPY AND OBSERVE YES, TOPICAL STEROID NO NO THERAPY MINIMAL TO NO SYMPTOMS SYMPTOMATIC MULTIPLE ORGANS SYSTENIC THERPY PREDNISOLONE YES,CONSIDER SYSTEMIC THERAPY ANTERIOR EYE, LOCALISED SKIN ACUTE DISEASE CANNOT TAPER OR GLUCOTOXICITY TAPER 10mg IN < 6 MONTHS CONSIDER METHOTREXATE, HCQ, AZOTHIOPRINE
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MANAGEMENT OF CHRONIC DIEASE GLUCOCORTICOIDS NOT TOLERATED MTX HCQ AZATHIOPRIN LEFLUNOMIDE MINOCYCLINE SEEK ALTERNATIVAGENT CHRONIC DISEASE ALTERNATIVE AGENT DOSE < 10 mg/d GLUCOCORTICOIDS NOT EFFECTIVE CONTINUE THERAPY IF EFFECTIVE, TAPER OFF STEROIDS GLUCOCORTICOIDS TOLERATED TRY ALTERNATIVE AGENTS IF NOT EFFECTIVE, CONSIDER INFLIXIMAB,CYCLOPHOSPHAMIDE, THALIDOMIDE YES NO
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PROGNOSIS The risk of death or loss of organ function remains low in sarcoidosis. majority of patients have acute, self-limiting disease which resolves within 2–5 years. chronic patients can be identified at presentation by certain risk factors such as fibrosis on chest roentgenogram presence of lupus pernio bone cysts, cardiac or neurologic disease presence of renal calculi due to hypercalciuria patients who require glucocorticoids in the first 6 months of presentation
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