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Rheumatology International

, Volume 39, Issue 3, pp 569–576 | Cite as

Challenges in the treatment of fibrodysplasia ossificans progressiva

  • Kardelen Gencer-Atalay
  • Ekim Can Ozturk
  • Ilker Yagci
  • Pinar Ata
  • Kenan Delil
  • Zerrin Ozgen
  • Gulseren AkyuzEmail author
Case Based Review

Abstract

Fibrodysplasia ossificans progressiva (FOP), is a rare autosomal dominant connective tissue disease with a prevalence of 1 in 2 million. It is characterized by congenital foot deformities and multiple heterotopic ossifications in fibrous tissue. It usually starts with painful soft tissue swellings occurring with attacks at the ages of three or four. The attacks develop spontaneously or after minor trauma, and gradually turn into heterotopic ossifications that cause joint limitations, growth defects, skeletal deformities and chronic pain. The average life expectancy is forthy, and most of the patients are lost due to pulmonary complications. FOP is often misdiagnosed as fibromatosis, desmoid tumour or cancer, bunion, myositis, arthritis and rheumatic diseases. After clinical suspicion, confirmatory genetic analysis should be used for the diagnosis. The treatment of FOP is currently supportive. An effective, proven method has not yet been established. Herein, we present an 18-year-old female patient with FOP who underwent different treatment modalities in a 5-year period. This case-based review reveals all available treatment approaches with at least 6-month follow-up for FOP in the literature.

Keywords

Fibrodysplasia ossificans progressiva Heterotopic ossification Treatment 

Notes

Author contributions

All co-authors have met all four criteria for authorship according to the International Committee of Medical Journal Editors (ICMJE).

Compliance with ethical standards

Conflict of interest

KGA declares that she has no conflict of interest. ECO declares that he has no conflict of interest. IY declares that he has no conflict of interest. PA declares that she has no conflict of interest. KD declares that he has no conflict of interest. ZO declares that she has no conflict of interest. GA declares that she has no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from the patient included in the study.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Physical Medicine and RehabilitationMarmara University School of MedicineIstanbulTurkey
  2. 2.Department of Medical GeneticsMarmara University School of MedicineIstanbulTurkey
  3. 3.Department of Radiation OncologyMarmara University School of MedicineIstanbulTurkey

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