Georgiana Constantinescu1, Martin Bidlingmaier2, Matthias Gruber1, Mirko Peitzsch3, David M Poitz3, Antonius E van Herwaarden4, Katharina Langton1, Carola Kunath1, Martin Reincke2, Jaap Deinum4, Jacques W M Lenders5, Thomas Hofmockel6, Stefan R Bornstein1, Graeme Eisenhofer7. 1. Department of Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. 2. Medizinische Klinik und Poliklinik IV, Klinikum der Ludwig-Maximilians-Universität München, Munich, Germany. 3. Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. 4. Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands. 5. Department of Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands. 6. Department of Radiology and Interventional Radiology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. 7. Department of Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. Electronic address: Grame.Eisenhofer@uniklinikum-dresden.de.
Abstract
BACKGROUND: Diagnosis of primary aldosteronism (PA) involves a multistep process reliant on the accuracy of aldosterone measurements at each step. We report on immunoassay interference leading to a wrongful diagnosis and indication for surgical intervention. CASE: A 38-year old hypertensive male with a 1.4 cm left adrenal mass was diagnosed with PA based on an elevated aldosterone:renin ratio and a positive saline infusion test. Adrenal venous sampling (AVS) indicated left-sided aldosterone hypersecretion, supporting a decision to remove the left adrenal. The patient was also enrolled in a study to evaluate mass spectrometry-based steroid profiling, which indicated plasma aldosterone concentrations measured in five different peripheral samples averaging only 11% those of the immunoassay. Mass spectrometric measurements did not support left-sided adrenal aldosterone hypersecretion. Two independent laboratories confirmed differences in measurements by immunoassay and mass spectrometry. Lowered concentrations measured by the immunoassay that matched those by mass spectrometry were achieved after sample purification to remove macromolecules, confirming immunoassay interference. CONCLUSIONS: Although our patient may represent an isolated case of immunoassay interference leading to misdiagnosis of PA, unnecessary AVS and potentially wrongful removal of an adrenal, it is also possible that such inaccuracies may impact the diagnostic process and treatment for other patients.
BACKGROUND: Diagnosis of primary aldosteronism (PA) involves a multistep process reliant on the accuracy of aldosterone measurements at each step. We report on immunoassay interference leading to a wrongful diagnosis and indication for surgical intervention. CASE: A 38-year old hypertensive male with a 1.4 cm left adrenal mass was diagnosed with PA based on an elevated aldosterone:renin ratio and a positive saline infusion test. Adrenal venous sampling (AVS) indicated left-sided aldosterone hypersecretion, supporting a decision to remove the left adrenal. The patient was also enrolled in a study to evaluate mass spectrometry-based steroid profiling, which indicated plasma aldosterone concentrations measured in five different peripheral samples averaging only 11% those of the immunoassay. Mass spectrometric measurements did not support left-sided adrenal aldosterone hypersecretion. Two independent laboratories confirmed differences in measurements by immunoassay and mass spectrometry. Lowered concentrations measured by the immunoassay that matched those by mass spectrometry were achieved after sample purification to remove macromolecules, confirming immunoassay interference. CONCLUSIONS: Although our patient may represent an isolated case of immunoassay interference leading to misdiagnosis of PA, unnecessary AVS and potentially wrongful removal of an adrenal, it is also possible that such inaccuracies may impact the diagnostic process and treatment for other patients.
Authors: Graeme Eisenhofer; Max Kurlbaum; Mirko Peitzsch; Georgiana Constantinescu; Hanna Remde; Manuel Schulze; Denise Kaden; Lisa Marie Müller; Carmina T Fuss; Sonja Kunz; Sylwia Kołodziejczyk-Kruk; Sven Gruber; Aleksander Prejbisz; Felix Beuschlein; Tracy Ann Williams; Martin Reincke; Jacques W M Lenders; Martin Bidlingmaier Journal: J Clin Endocrinol Metab Date: 2022-04-19 Impact factor: 6.134