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A previously fit and well 43-year-old woman from West Africa presented with a 9 month history of productive cough, weight loss and unsteadiness on her feet. She denied night sweats. On examination she was apyrexial. Blood cultures were negative. Full blood count was normal, serum ACE was elevated at 194, and she was hypercalcaemic with a low parathyroid hormone level. She was HIV negative. Chest X-ray and subsequent CT chest showed bilateral hilar and mediastinal lymph node enlargement. MRI brain and spine were normal. Lumbar puncture revealed no organisms, low protein and glucose.
On further questioning she gave a several months’ history of bilateral blurred vision. She was reviewed by ophthalmology and was found to have visual acuity of 6/9 and mild anterior chamber activity with mutton-fat keratic precipitates bilaterally. Dilated funduscopy revealed bilateral multiple small, rounded, white choroidal lesions. There was no vitreous activity. There were no conjunctival lesions visible, however, a decision was made to take a conjunctival biopsy to assist with tissue diagnosis (figures 1 and 2).
What is your differential diagnosis?
What is this finding consistent of?
How should this be further managed?
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The differential diagnoses in this case were sarcoidosis, tuberculosis (TB) and lymphoma. The medical team initially managed this patient conservatively and was keen to have tissue diagnosis prior to commencing treatment. Corticosteroids are the main treatment for sarcoidosis; however this can have adverse effects due to immunosuppression in untreated TB. Guidelines1 suggest that patients with pulmonary sarcoidosis can be managed conservatively, unless there is hypercalcaemia, or neurological or ocular involvement when systemic steroids are indicated. The patient received treatment 12 days after first presenting.
Non-caseating epithelioid granulomata in the subepithelial tissue. (Photographs×2 at 200 and 400 times magnification showing the surface stratified squamous epithelium with brown basal pigmentation. The granuloma is the collection of epithelioid (ie, epithelial-like) cells beneath the surface.)
Sarcoidosis. This diagnosis is based on the above histological finding subject to the appropriate clinical and radiological findings (as in this case) together with exclusion of other causes of granuloma. Sarcoidosis is a chronic granulomatous inflammatory disease that can have multiorgan involvement. This patient had pulmonary, neurological, ocular, renal and cardiac involvement.
Guidelines2 suggest treatment with prednisolone 0.5 mg/kg/day for 4 weeks with gradual tapering of the dose. Immunosuppression with methotrexate or azathioprine may also be considered. This patient was commenced on intravenous methylprednisolone for 3 days and then on oral prednisolone (reducing course). Her neurological and ocular symptoms improved dramatically after three doses of intravenous methylprednisolone.
The clinical signs of ocular sarcoidosis are similar to those of ocular TB and masquerade syndromes (eg, intraocular lymphoma). Similarly, productive cough and weight loss can be suggestive of any of the above conditions.
Elevated serum ACE and bilateral hilar lymphadenopathy on chest X-ray in conjunction with ocular signs are suggestive of sarcoidosis, however, the International Workshop on Ocular Sarcoidosis considers biopsy supported diagnosis as definitive.3 Bronchoalveolar and lung biopsies are invasive whereas conjunctival biopsy has been highlighted as a simple and safe procedure.4
In this case a random conjunctival biopsy provided a definitive diagnosis of multiorgan sarcoidosis. Although controversial due to the possibility of a false negative result, this procedure should be considered (even if no conjunctival lesions are seen) in cases of multiorgan disease, as a positive result will be definitive and would avoid delaying treatment when a diagnosis is uncertain.
Contributors All authors were involved in the management of the patient. AS and CM drafted the case report. BH prepared the histology slides and wrote the histological aspects of the case report. SA reviewed the draft and contributed to the ophthalmology aspects within the case report.
Competing interests None.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.