| Autor: |
Di Rocco M; Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Largo Gaslini 5, 16147, Genoa, Italy. majadirocco@gaslini.org., Baujat G; Service of Medical Genetics CHU Paris - Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743, Paris, France., Bertamino M; Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Largo Gaslini 5, 16147, Genoa, Italy., Brown M; Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD, 4069, Australia., De Cunto CL; Department of Pediatrics, Pediatric Rheumatology Section, Hospital Italiano de Buenos Aires, Gascón 450, 1181, Ciudad Autónoma de Buenos Aires, Argentina., Delai PLR; Orthopaedic Department of Santa Casa de Misericórdia de São Paulo, School of Medicine Faculdade de Ciências Médicas da Santa Casa de São Paulo, Rua Pedro de Toledo 129 cj 121, Vila Clementino, 04039-001, São Paulo, Brazil., Eekhoff EMW; Department of Internal Medicine/Section Endocrinology, VU Medical Center Amsterdam, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands., Haga N; Department of Rehabilitation Medicine Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan., Hsiao E; Department of Endocrinology, Faculty Practice University of California-San Francisco, 400 Parnassus Ave., San Francisco, CA, 94143-1222, USA., Keen R; University College London Hospitals, London, NW1 2PQ, UK., Morhart R; Department of Pediatrics Klinikum Garmisch-Partenkirchen GmbH, Auenstraße 6, 82467, Garmisch-Partenkirchen, Germany., Pignolo RJ; Department of Medicine, Division of Geriatric Medicine & Gerontology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN, USA., Kaplan FS; Department of Orthopaedic Surgery, Center for Research in FOP & Related Disorders, The Perelman School of Medicine, The University of Pennsylvania, 3737 Market Street, Philadelphia, PA, 19104, USA. |
| Abstrakt: |
Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also known as ALK2), a bone morphogenetic protein (BMP) type I receptor. Presently, symptomatic management is possible, but no definitive treatments are available. Although extensive guidelines for symptomatic management are widely used, regional preferences exist. In order to understand if there was worldwide consensus among clinicians treating FOP patients, an expert panel of physicians directly involved in FOP patient care was convened. Using a modified Delphi method, broad international consensus was reached on four main topics: diagnosis, prevention of flare-ups, patient and family-centered care and general clinical management issues. This study of physician preferences provides a basis for standardization of clinical management for FOP. |
