Fibrodisplazi Ossifikans Progressiva: Olgu Sunumu

Yıl 2015, , 222 - 226, 01.12.2015

Enver Şimşek Çiğdem Binay , Nur Göbüt

https://doi.org/10.4274/jcp.48403

Öz

Fibrodisplazi ossifikans progressiva FOP , oldukça nadir görülen bir genetik hastalıktır. FOP olgularında az sayıda hastada otozomal dominant genetik geçiş bildirilmekle birlikte genellikle sporadik mutasyonlarla oluşmaktadır. Hastalığın önlenmesinde ve tedavisinde kesin bir yaklaşım yoktur. Erken tanı konulması, hastalığın progresyonunu hızlandıran gereksiz tanı ve tedavi prosedürlerinin engellenmesi açısından çok önemlidir. Burada, ilk semptomları 9 aylıkken yapılan aşı sonrasında sol deltoid bölgede görülen şişlik ve sertlik olarak başlayan, lezyon bölgesinden yapılan eksizyonel biyopsi ve sağ kolundan yapılan kemik biyopsisi sonrası sık oluşan alevlenmeler ile ilerleyici karakterde klinik sergileyen bir olgu sunuldu. Semptomatik tedavi ve profilaktik önlemler ile hastanın yaşam süresi ve kalitesinin arttırılması amaçlandı. Hastamızın takibinde, alevlenme dönemlerinde oral prednizolon, alendronat ve pamidronat tedavileri uygulandı

Anahtar Kelimeler

Fibrodisplazi ossifikans progressiva, alendronat, pamidronat

Fibrodysplasia Ossificans Progressiva: Case Report

Öz

Fibrodysplasia ossificans progressiva FOP is a very rare genetic disorder. Most cases of FOP arise as a result of spontaneous mutation. A few patients with an autosomal dominant genetic transmission are reported. There is no definitive approach to the prevention and treatment of disease. Early diagnosis prevents unnecessary diagnostic and therapeutic procedures which lead to the progression of the disease. Here, we present a case whose first symptoms began at 9 months of age with swelling and stiffness at the vaccinated region and progressed with exacerbations after the excisional biopsy of the lesion and the bone biopsy of the right arm. Symptomatic treatment and prophylactic measures aimed to improve the quality of life. Exacerbations during follow up were treated with oral prednisolone, alendronate and pamidronate

Anahtar Kelimeler

Fibrodysplasia ossificans progressiva, alendronate, pamidronate

Kaynakça

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