Poster Presentation ESA-SRB-ANZOS 2025 in conjunction with ENSA

Multisystem Sarcoidosis with Vertebral Involvement: Diagnostic and Therapeutic Challenges (128670)

Tavleen Kaur 1 2 , Zoe Yu Shiu 1 , Varun Manoharan 1 2 , Brian Tran 1 , Emily Hibbert 1 3
  1. Department of Endocrinology, Nepean Hospital,NBMLHD, Sydney, NSW, Australia
  2. Southwest Clinical School, UNSW Medicine, Sydney, NSW, Australia
  3. Charles Perkins Centre- Nepean, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia

We describe a diagnostically complex case of multisystem sarcoidosis presenting with PTH-independent hypercalcaemia, diagnosed on vertebral biopsy.

A previously well 60-year-old woman was referred with six weeks of fatigue. Initial examination revealed only dehydration. Investigations demonstrated a corrected calcium 3.44 mmol/L (2.1–2.60), iPTH 1.3 pmol/L (1.6–6.9), creatinine 116 µmol/L (45–90), urine calcium/creatinine ratio 2.64 (0.1–0.58), and 25-OH vitamin D 42 nmol/L. Myeloma screening and tumour markers were negative. CT identified bilateral mediastinal lymphadenopathy with lung nodules. Serum ACE was 138 U/L (20–70), and 1,25-dihydroxy vitamin D was >480 pmol/L (48–190).

Initial management included calcitonin, intravenous 0.9% saline, intravenous bisphosphonate and 40 mg prednisone daily. EBUS-guided lymph node sampling was non-diagnostic, possibly due to partial treatment response. FDG-PET demonstrated uptake in multiple hilar and perihilar lymph nodes, right axillary lymph node and L5 and S1 vertebrae. Right axillary node biopsy was inconclusive. Quantiferon gold was negative.

Infiltrative changes in C5, L5, and S1 vertebrae were subsequently noted on MRI spine, prompting a CT-guided L5 vertebral biopsy which confirmed non-necrotising granulomatous inflammation consistent with sarcoidosis.

Hypercalcaemia resolved (2.39 mmol/L) and ACE level normalised with corticosteroids and bisphosphonate. Given acute kidney injury, methotrexate was avoided, and she was transitioned to adalimumab following histopathological confirmation. Constitutional symptoms improved and prednisone was weaned.

Vertebral sarcoidosis is rare, with fewer than 50 published cases1,2. Diagnosis is often delayed due to nonspecific symptoms and inconclusive investigations. This case highlights the value of vertebral biopsy when FDG-PET uptake is present and conventional lymph node sampling is non-diagnostic. It also underscores the role of targeted immunosuppression. The successful use of adalimumab reinforces its emerging role as a steroid-sparing agent in extrapulmonary sarcoidosis3-5. Heightened awareness of vertebral sarcoidosis may facilitate earlier diagnosis and treatment.

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  1. Dureja A, Agarwal S, Pandey T, et al. Vertebral sarcoidosis: a report of five cases and review of literature. Clin Imaging. 2018;52:325–330.
  2. Tehranzadeh J, Fung Y, Donohue M, et al. Sarcoidosis of the spine: imaging findings. AJR Am J Roentgenol. 2007;189(6):W44–W48.
  3. Sweiss NJ, Lower EE, Korsten P, et al. Rituximab in the treatment of refractory pulmonary sarcoidosis. Eur Respir J. 2014;43(5):1525–1528.
  4. Baughman RP, Judson MA, Ingledue R, et al. Efficacy and safety of adalimumab in patients with refractory sarcoidosis. Respir Med. 2014;108(2):275–283.
  5. Adler BL, Wang CJ, Bui TL, et al. Anti–TNF therapy in sarcoidosis: a meta-analysis. Rheumatology (Oxford). 2020;59(8):1940–1950.