Challenges in the treatment of fibrodysplasia ossificans progressiva
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.
KeywordsFibrodysplasia ossificans progressiva Heterotopic ossification Treatment
All co-authors have met all four criteria for authorship according to the International Committee of Medical Journal Editors (ICMJE).
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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.
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 was obtained from the patient included in the study.
- 5.Pignolo RJ, Shore EM, Kaplan FS (2013) Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic Horizons. Pediatr Endocrinol Rev 10(0 2):437–448Google Scholar
- 6.Kaplan FS, Shore EM, Glaser DL, Emerson S (2003) The medical management of fibrodysplasia ossificans progressiva: Current treatment considerations. Clin Proc Intl Clin Consort FOP 1(2):1–72Google Scholar
- 7.Soldic Z, Murgic J, Radic J, Dabelic N, Jazvic M, Brozic JM el al (2011) Radiation therapy in treatment of fibrodysplasia ossificans progressiva: a case report and review of the literature. Coll Antropol 35(2):611–614Google Scholar
- 10.Rogoveanu O, Traistrau R, Streba CT, Stoica Z, Popescu R (2013) Clinical, evolution and therapeutical considerations upon a case of fibrodysplasia ossificans progressiva (FOP). J Med Life 6(4):454–458Google Scholar
- 11.Bouvard B, Masson C, Legrand E, Audran M (2016) Fibrodyspalsia ossificans progressiva. A case report and focus on the BMP signaling pathway. Morpho 271:6Google Scholar
- 13.Gatti D, Viapiana O, Rossini M, Silvano A (2010) Rosiglitazone therapy is assosiated with major clinical improvements in a patient with fibrodysplasia ossificans progressiva. J Bone Miner Res 25(6):1460–1462Google Scholar
- 18.Ozkan S, Alp E, Demirag F, Yazici U, Karaoglanoglu N (2014) Intrathoracic Fibrodysplasia Ossificans Progressiva. Thorac Cardiovasc Surg 62:192–195Google Scholar
- 20.Jayasundara JASB, Punchihewa GL, Alwis DS (2012) An unusual case of adult onset progressive heterotopic ossification suggesting a variant form of fibrodysplasia ossificans progressiva. Singap Med J 53(4):e83–e86Google Scholar
- 24.Soldic Z, Murgic J, Radic J, Dabelic N, Jazvic M, Brozic JM et al (2011) Radiation therapy in treatment of fibrodysplasia ossificans progressiva: a case report and review of the literature. Coll Antropol 35(2):611–614Google Scholar