Abstract Sarcoidosis is a multisystem, inflammatory disorder with an estimated prevalence in the United States of 60 per 100,000 individuals. A diagnosis of sarcoidosis is made by confirming granulomatous inflammation in a compatible clinical scenario and excluding other causes, such as infection. Here, we present a case of a patient with longstanding hypercalcemia and nephrolithiasis ultimately determined to be due to sarcoidosis. A 63-year-old male with stage 3b chronic kidney disease secondary to hypercalcemia and recurrent nephrolithiasis, suspected connective tissue disease-interstitial lung disease (CTD-ILD), squamous and basal cell carcinoma, and historical use of exogenous testosterone and anabolic steroids was referred to our institution in 2025 due to an autoimmune disorder favored to represent sarcoidosis but without a definitive diagnosis. In 2021, he was found to have severe hypercalcemia, nephrolithiasis, and renal insufficiency. Angiotensin converting enzyme and 1,25-dihydroxyvitamin D were both elevated suggesting granulomatous inflammation. Kidney biopsy in 2022 was unremarkable. Lung biopsy in 2023 showed no granulomas and AFB and fungal cultures were negative. ANA was positive, but myeloperoxidase and proteinase 3 antibodies were negative. Positron emission tomography (PET) scan showed increased activity within arms and proximal thighs. Given prior injection of flaxseed oil and testosterone, local granulomatous inflammation was suspected; however, muscle biopsy in 2024 showed only fat necrosis. He was treated with mycophenolate mofetil, prednisone, and briefly infliximab with suboptimal control of hypercalcemia prior to referral to our facility. Repeat PET imaging showed persistent hypermetabolism in the musculature with a new focus of hypermetabolism in the right middle lobe. Robotic lung biopsy showed non-necrotizing granulomatous inflammation, again with negative AFB and fungal stains. A diagnosis of systemic sarcoidosis was made, so he was placed on methotrexate with continuation of prednisone and plans to re-try tumor necrosis factor inhibitor therapy if hypercalcemia persisted. This case details a unique presentation of systemic sarcoidosis characterized by localized granulomatous inflammation of the lung associated with skeletal muscle fat necrosis and refractory hypercalcemia in the setting of prior flaxseed oil and testosterone injections. While musculoskeletal involvement in sarcoidosis is well-described, this typically presents as progressive proximal muscle weakness which was not consistent with our patient’s symptoms and his muscle biopsy did not reveal non-caseating granulomas. Literature review was without a previously described similar case, highlighting the widely variable presentation of systemic sarcoidosis and the importance of a high degree of suspicion to guide further workup. This abstract is funded by: None
Dismukes et al. (Fri,) studied this question.