An adolescent girl presents symmetrical, red, tender swellings in shin and arthralgia. X-ray reveals hilar and paratracheat lymph node. She is clinically suspected to have sarcoidosis. Next step in the diagnosis is:
Ans: A (Mediastnal lymph node biopsy) Ref: Harrisons Textbook of Internal Medicine. 17th ed, chapter 322; Fishman's textbook of Pulmonary Diseases and Disorders, 4th ed pg: 1126-1134Explanation:Patients are usually evaluated for possible sarcoidosis based on two scenarios. In the first scenario, a patient may undergo a biopsy revealing a noncaseating granuloma in either a pulmonary or an extrapulmonary organ. If the clinical presentation is consistent with sarcoidosis and there is no alternative cause for the granulomas identified, then the patient is felt to have sarcoidosis.In the second scenario, signs or symptoms suggesting sarcoidosis such as the presence of bilateral adenopathy may be present in an otherwise asymptomatic patient or a patient with uveitis or a rash consistent with sarcoidosis. At this point, a diagnostic procedure should be performed. For the patient with a compatible skin lesion, a skin biopsy should be considered. Other biopsies to consider couid include liver, extrathoracic lymph noder or muscle. In some cases, a biopsy of the affected organ may not be easy to perform (such as a brain or spinal cord lesion}. In other cases,, such as an endomyocardial biopsy, the likelihood of a positive biopsy is low. Because of the high rate of pulmonary involvement in these cases, the lung may be easier to approach by bronchoscopy During the bronchoscopy, a transbronchial biopsy, bronchial biopsy, or transbronchial needle aspirate of an enlarged mediastinal lymph node can be performed. The endobronchial ultrasonography-guided transbronchial needle aspirate may be particularly useful in the patient with stage 1 disease (i.e., adenopathy without infiltrates)." Ref; Harrison.>>For the given scenario, the best next step would be Skin biopsy. Since it is not there in the option, the next best option would be Mediastnal lymph node biopsy.SarcoidosisMultisystem disorder of unknown origin.More common in women.Noncaseating granulomatous inflammation at sites of disease.The disease can involve ANY organ.Most commonly affects lungs and irstrathoracic lymph nodes.Etiopathogenesiso Intra-alveolar and interstitial accumulation of CD4+ T cells resulting in CD4:CD8 T cell ratios from 5:1 to 15:1.o Oiigoclonal expansion of T cells,o TNF level in BAL fluid is marker of disease activity,o Anergy to common antigens like Candida and tuberculous PPD.o Polyclonal hypergammaglobenima.o Associated with HLA-A1 and HLA B8.o Flaring of disease activity by infections - Propionibacterium acnes, Mycobacteria and Rickettsia.Clinical Featureso Most common site of involvement is Lung followed by skin,o Schaumann bodies, Asteroid bodies and Residual bodies on HPE.o Skin: Erythema nodosumfMost common), Hypo- hyperpigmentation, Subcutaneous nodules and Keloido Eye: Anterior uveitis (Most common), Posterior uveitis, Sicca syndrome, Blindness.o Miculicz Syndrome: Bilateral sacroidosis of parotid, submaxillary and sublingual glands,o Lofgren's syndromeClinical variant of SarcoidosisErythema nodosumHilar adenopathy on chest roentgenogramUveitisIt also includes periarticular arthritis without erythema nodosumAssociated with a good prognosis.Diagnosis:o Diagnosis requires histological demonstration of non-caseating granulomas in biopsy.o Bronchoscopy reveals Cobble stone appearance of mucosao Elevated ACE levels,o Lymphopenia.Hypercalcemia and Hypercalciuria.CXR: Egg shell calcification, Bilateral hilar, tracheal and mediastinal lymphadenopathy.CD4^CD8 ratio > 2.5 and CD3/CD4 ratio < 0.31 in BAL fluid.HRCT: Reticule nodular opacities that follow a perilymphatic distribution centered on bronchovascufar bundles and subpfeural areas.Positive Gallium scan: Increased activity in parotids and lacrimal glands (Panda sign) or in right paratracheal and left hilar area (Lambda sign).Kveim-Siltzbath skin test: Intradermal diagnostic skin test.Radiological staging of Sarcoidosis is as follows:o Stage 0- normal chest radiogram but clinical suspicion of Sarcoidosisf usually extra pulmonary),o Stage 1-hitar adenopathy without evidence of interstitial infiltrates.o Stage 2- bilateral hilar adenopathy and pulmonary infiltrates,o Stage 3-interstitial infiltrates are seen without evidence of hilar adenopathy.o Stage 4- extensive fibrocystic changes and scarring.Histological evidence is usually obtained through biopsy of the involved organ.For pulmonary sarcoidosis a transbronchial lung biopsy or transbronchial needle aspiration of lymph node may be done.Urine calcium estimate does NOT confirm the diagnosis of Sarcoidosis.Patient Management for Sarcoidosis|--Paliene referred for possible sarcoidosis ||Biopsy showing granuloma no alternative diagramsfeatures suggesting sarcoidosis:Consistent chest roentgenogram (adencpalhy)Consistent skin lesions: lupus pemia erythema nodosum. maculopapular lesionsUveitis. optic neuritis. Hypercaicemia hypercalcania seventh paralysis. | | Clinically consistent with sarcoidosis Bopsy allected organ if possible Bronohoscopy: biopsy with granulomaNeedle aspirate: granulomas | Yes |No | || <||Negative but no evidence of alternative diagnosisYes and no alternative diagnosis-Sarcoidosis| | Features highly consistent with sarcoidosisSerum ACE level >2 limes upper limit normalBAL lymphocytosis >2 times upper limit normalPanda/lambda sign on gallium scan No|Yes||Possible sarcoidosis; other diagnosis Sarcoidosis
Mediastinal lymph node biopsy
24 hours urine calcium estimation
CT thorax
Follow up with 3 monthly CXR
Interstitial Lung Disease