Diagnostic Value of Magnetic Resonance Imaging in Fibrodysplasia Ossificans Progressiva.

Esmée Botman,Nathalie Bravenboer,Ton Schoenmaker,Arend Bökenkamp,Dimitra Micha,Maqsood Yaqub,Adriaan A Lammertsma,J Coen Netelenbos,Elisabeth Mw Eekhoff,Pieter Raijmakers,Bernd P Teunissen,Pim Graaf,Sanne Treurniet,Gerard Pals

doi:10.1002/jbm4.10363

Esmée Botman, Nathalie Bravenboer + Show 12 more

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https://doi.org/10.1002/jbm4.10363

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Abstract

ABSTRACTUsing [18F] Sodium Fuoride (NaF) Positron Emission Tomography (PET) it is not only possible to identify the ossifying potency of a flare‐up, but also to identify an asymptomatic chronic stage of fibrodysplasia ossificans progressiva (FOP). The purpose of this study was to investigate the diagnostic role of a more widely available imaging modality, Magnetic Resonance Imaging (MRI), which is of special interest for studies in pediatric FOP patients. MRI and [18F]NaF PET/CT images at time of inclusion and subsequent follow‐up CT scans of 4 patients were analyzed retrospectively. Presence, location, and intensity of edema identified by MRI were compared with activity on [18F]NaF PET. Occurrence or progression of heterotopic ossification (HO) was examined on the follow‐up CT images. Thirteen different lesions in various muscle groups were identified: five lesions with only edema, five lesions with both edema and increased [18F]NaF uptake, one lesion with only increased [18F]NaF uptake, and two lesions with neither edema nor uptake of [18F]NaF. Mild edema, found in three lesions, was present at asymptomatic sites, which did not show increased [18F] NaF uptake or progression of HO on consecutive CT images. Moderate edema was found in three symptomatic lesions, with increased [18F]NaF on PET and progression of HO on CT. Severe edema was identified in four lesions. Interestingly, two of these lesions did not develop HO during follow‐up; one of these two even gave obvious symptoms of a flare‐up. MRI can identify whether symptoms are the result of an acute flare‐up by the presence of moderate to severe edema. The occurrence of severe edema on MRI was not always related to an ossifying lesion. The additional diagnostic value of MRI requires further investigation, but MRI does not seem to fully replace the diagnostic characteristics of [18F]NaF PET/CT in FOP. © 2020 The Authors. JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.

Highlights

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disease leading to ankyloses caused by excessive heterotopic bone formation in connective tissue.[1,2,3] This progressive autosomal dominant disorder is characterized by periodic flare-ups.[2,4,5] A flare-up is thought to start with an inflammatory process in muscles, tendons, and ligaments
The Magnetic Resonance Imaging (MRI) T2-signal was in accordance with the [18F]NaF Positron Emision Tomography (PET) signal.[16]. For human FOP patients, it is not known whether edema on MRI can distinguish between ossifying and nonossifying flare-ups, as well as between active and asymptomatic chronic FOP disease, as in the case for [18F] NaF PET/CT.[8] the aim of this study was to assess whether MRI can identify different stages of FOP
The aim of this study was to determine the diagnostic value of MRI in FOP by comparing it with the recently validated marker of disease activity: the [18F]NaF PET/CT

Summary

Introduction

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disease leading to ankyloses caused by excessive heterotopic bone formation in connective tissue.[1,2,3] This progressive autosomal dominant disorder is characterized by periodic flare-ups.[2,4,5] A flare-up is thought to start with an inflammatory process in muscles, tendons, and ligaments. Tomography (CT), it has become possible to identify which of these flare-ups will lead to HO.[6,7] Recently, it was shown that [18F]NaF PET/CT can identify asymptomatic. Once HO was formed, the signal subsided In this animal model, the MRI T2-signal was in accordance with the [18F]NaF PET signal.[16] For human FOP patients, it is not known whether edema on MRI can distinguish between ossifying and nonossifying flare-ups, as well as between active and asymptomatic chronic FOP disease, as in the case for [18F] NaF PET/CT.[8] the aim of this study was to assess whether MRI can identify different stages of FOP. Assuming that HO formation is always accompanied by edema, it should be possible to detect the chronic component of disease by MRI

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