Case Presentation: A 36-year-old male with no significant past medical history presented with bilateral facial swelling at the behest of his wife. Discharged home. Two weeks later he presented for follow up with continued swelling and new onset fevers, night sweats, a 12-pound unintentional weight loss, and dyspnea on exertion, specifically reporting difficulty ascending one flight of stairs. He also endorsed a tingling sensation on his right forehead. Vital signs were T 98.4 F HR 97 BP 119/76 RR 20 SpO2 98% RA. Physical exam revealed bilateral non-tender swelling of the face approximately the size of two golf balls each side, and asymmetric smile. Lungs were clear to auscultation. No hepatomegaly. No rashes or joint pain. Ophthalmologic exam was unremarkable. Of significance, labs demonstrated a leukopenia at 3.39 and elevated liver enzymes at 72 and 81. Chest X-ray demonstrated bilateral hilar adenopathy and extensive diffuse interstitial prominence. Given his extreme dyspnea, a chest CT was obtained and demonstrated extensive mediastinal and hilar lymphadenopathy, pulmonary interstitial thickening/reticulation with an upper lobe predominant distribution, and innumerable ground glass nodules. An electrocardiogram showed normal sinus rhythm with evidence of left ventricular enlargement. A cardiac MRI demonstrated mid-myocardial delayed enhancement in the inferior apical wall. The patient underwent bronchoscopy with lymph node biopsy, and pathology revealed multiple granulomas composed of spindled to epithelioid histiocytes, consistent with sarcoidosis. Other diagnoses with similar histological findings were excluded. He was started on daily prednisone, which resulted in significant improvement of his presenting symptoms.
Discussion: Sarcoidosis is a multi-system, granulomatous disease of unclear etiology, which most commonly presents with pulmonary symptoms including cough, dyspnea, chest pain, fever, and weight loss. The incidence is 5-40 cases per 100,000 people and is most often seen amongst African Americans and females. The peak incidence is between ages 20-39. Sarcoidosis can present in various ways; parotid gland enlargement, facial palsy, anterior uveitis, and fever are all characteristic of Heerfordt-Waldenstrom syndrome, a rare presentation of sarcoidosis. The diagnosis of sarcoidosis is established on the basis of compatible clinical and radiologic findings, supported by histologic evidence of noncaseating granulomas on lymph node biopsy. As there is no curative treatment for sarcoidosis., the goal of therapy is to control the disease. The mainstay of therapy is immunsuppressives, typically corticosteroids. Corticosteroids have been shown to improve respiratory symptoms but no not carry a survival benefit. Additional indications for treatment include neurological symptoms, cardiac symptoms, sight-threatening ocular involvement and hypercalcemia.
Conclusions: While the most common presenting symptoms of sarcoidosis are pulmonary in nature, clinicians should be aware of the extrapulmonary manifestations of sarcoidosis. Clinicians should also be aware of indications for starting treatment and when watchful waiting is most appropriate.