Number№82 (4) 2020

Rare diseases: two cases of fibrodysplasia ossificans progressiva in the practice of a pediatric rheumatologist

Ошлянська О.А., Арцимович А.Г., Самоненко Н.В.

Summary. Fibrodysplasia ossificans progressiva is a rare (1 out of 2 million) genetic disease with an autosomal dominant type of inheritance, which causes fibrous tissue to be gradually ossified and leads to disability and then death of the patient. The path to the diagnosis often takes se­veral years, due to the low prevalence of pathology and clinical similarity to orthopedic and oncological diseases. Today, this disease is incurable, but there are ongoing clinical trials of drugs in the world that will suspend the process of ossification. Objective: to draw attention to the features of the course and difficulties of diagnosis of fibrodysplasia ossificans progressiva. Object: pediatric patients with fibrodysplasia ossificans progressiva. Methods: analysis of data of medical documentation. Results: two cases of fibrodysplasia ossificans progressiva in children undergoing treatment at the SI «IPOG named after O.M. Lukyanova of NAMS of Ukraine» are described. Conclusions. The caution of pediatric rheumatologists and doctors of related specialties in detecting cases of fibrodysplasia ossificans progressiva will allow as early as possible to provide all possible assistance to patients with this dia­gnosis and improve their quality of life.

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