TY - JOUR T1 - <strong>The Role of 18F-NaF PET/CT imaging in diagnosis and management of familial tumoral calcinosis – A pictorial review</strong> JF - Journal of Nuclear Medicine JO - J Nucl Med SP - 2675 LP - 2675 VL - 63 IS - supplement 2 AU - Natalia Wojnowski AU - Moozhan Nikpanah AU - Faraz Farhadi AU - Elizabeth Theng AU - Navid Hasani AU - Michael Morris AU - Rachel Gafni AU - Michael Collins AU - Babak Saboury Y1 - 2022/06/01 UR - http://jnm.snmjournals.org/content/63/supplement_2/2675.abstract N2 - 2675 Introduction: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare and disabling cause of hyperphosphatemia and ectopic calcifications. The aim of this educational exhibit is to familiarize clinicians with 18F-sodium fluoride (18F-NaF) PET/CT imaging manifestations of familial tumoral calcinosis (FTC). Given the rarity of the disease, it is important for clinicians to be familiar with the presentation in order to be able to diagnose FTC in clinical practice. Background: FTC is a rare disease resulting from deficiency or resistance to fibroblast growth factor 23 (FGF23), a phosphate-regulating hormone. Patients usually present with hyperphosphatemia, ectopic calcifications in periarticular soft tissues and hyperostosis (cortical hypermineralization and patchy medullary cavity sclerosis) over the diaphyseal regions of the long bones. Additionally, it may present with systemic inflammation, ocular manifestations and dental pathology. Diagnosis of FTC is based on characteristic clinical presentation, laboratory findings, histopathology and imaging. Radiographs of lesions can show heterogeneous calcified masses while CT can be used to qualitatively monitor changes in size of ectopic calcifications and identify vascular calcifications. 18F-NaF PET/CT provides a novel avenue for superior detection and temporal quantification of ectopic calcifications and vascular involvement earlier in the disease course.Methods: A scoping review of the literature was performed. Images from patients diagnosed with FTC and enrolled in a natural history study at our institution were utilized for the pictorial review to demonstrate the breadth of clinical presentations among a cohort consisting of 17 patients, which is among the largest available, as well as select instructive cases from the literature to present the most comprehensive pictorial of this rare disease.Results: This review of the literature will provide:An overview of FTC diagnosis and managementPathogenesis of FTCClinical phenotypeLaboratory findings and current state of diagnosis Differential diagnosis for Hyperphosphatemic Familial Tumoral CalcinosisManagement strategiesRole of 18F-NaF PET/CT imaging in diagnosis and prognostication of FTCImaging presentation of FTCX-ray findings Tumoral calcinosis, hyperostosis and dental x-rays CT findings Tumoral calcinosis Vascular calcification 18F-NaF PET/CT features of FTCConclusions: It is important for nuclear medicine physicians and radiologists to be aware of this rare disease in order to enable earlier diagnosis and avoid missed diagnosis. The combination of clinical history, laboratory findings and imaging can aid in the diagnosis and management of familial tumoral calcinosis. 18F-NaF PET/CT imaging provides a novel tool for disease monitoring in FTC, and this review will serve as a resource for clinicians to identify key features of this disease on imaging. ER -