Radiation therapy in treatment of fibrodysplasia ossificans progressiva: a case report and review of the literature [Radioterapija u liječenju progresivne osificirajuće fibrodisplazije: prikaz slučaja i pregled literature]

Soldić, Željko and Murgić, Jure and Radić, Jasna and Dabelić, Nina and Jazvić, Marijana and Marić Brozić, Jasmina and Kusić, Zvonko (2011) Radiation therapy in treatment of fibrodysplasia ossificans progressiva: a case report and review of the literature [Radioterapija u liječenju progresivne osificirajuće fibrodisplazije: prikaz slučaja i pregled literature]. Collegium Antropologicum, 35 (2). pp. 611-614. ISSN 0350-6134

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Abstract

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disorder with diffuse extra-skeletal bone formation. The genetic mutation responsible for FOP has recently been discovered and is connected with excessive activation of bone morphogenetic protein receptor. This disease usually begins with typical ossification pattern in early childhood, causing increasing disability and making patients totally disabled by the age of 30. Ectopic ossification develops spontaneously and can be triggered by any trauma and even intramuscular injections. The symptoms of FOP are often misdiagnosed as cancer, causing unnecessary biopsies, which can precipitate further progressive heterotopic ossification. There is no effective treatment for this severe condition. Radiotherapy can be helpful in impeding ossification, although the strict evidence for that is lacking. There are only two reports in the literature referring to the use of radiotherapy in treatment of FOP. Herein, we present a 35-year-old patient successfully treated with small doses of fractionated radiotherapy in several courses. This case indicates that radiotherapy can be useful in treating patients with FOP.

Abstract in Croatian

Fibrodysplasia ossificans progressiva (FOP) vrlo je rijetki genetski poremećaj kojeg karakterizira difuzno ekstraskeletalno stvaranje kosti. Genetska mutacija odgovorna za nastanak FOP-a je nedavno otkrivena i povezana je s prekomjernom aktivnosti receptora za koštani morfogenetski protein. Ta bolest obično počinje u ranom djetinjstvu tipičnim načinom okoštavanja, uzrokujući progresivnu onemoćalost, tako da bolesnici postaju potpuni invalidi do dobi od 30 godina. Ektopično okoštavanje se razvija spontano i može biti uzrokovano bilo kakvom vrstom traume, čak i intramuskularnim injekcijama. Simptomi FOP-a se često krivo dijagnosticiraju kao rak, uzrokujući nepotrebne biopsije, što precipitira daljnje opsežno ektopično okoštavanje. Nema učinkovitog liječenja za ovo teško stanje. Radioterapija može biti korisna u usporavanju okoštavanja, iako nema čvrstih dokaza za to. Postoje samo dva literaturna izvještaja koji se odnose na korištenje radioterapije u liječenju FOP-a. U ovom radu prikazuje se slučaj 35-godišnje bolesnice koja je uspješno liječena malim dozama frakcionirane radioterapije. Ovaj slučaj upućuje na činjenicu da radioterapija može biti korisna u liječenju bolesnika sa FOP-om.

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