Fibrodysplasia ossificans progressiva (clinical observation with a brief review of the literature)

Abstract

BACKGROUND: Fibrodysplasia ossificans progressiva is a rare genetically determined disease of the musculoskeletal system and characterized by heterotopic ossifications in the muscles, fascia, and tendons and congenital and skeletal deformities that form during life. Owing to the lack of awareness of doctors, unresolved challenges in monitoring the disease and predicting the course and development of its complications, and the lack of generally accepted effective treatment, fibrodysplasia ossificans progressiva leads to severe disability and social disadaptation, limiting the life expectancy of patients. CLINICAL CASE DESCRIPTION: The characteristic anamnestic data of a patient with fibrodysplasia ossificans progressiva are presented. The course of the disease from the moment of detection at age 1 year and 3 months to 29 years was determined. Notably, the care and symptomatic treatment performed during this period could not prevent the regular appearance of new heterotopic ossifications, which led to severe functional disorders and loss of the patient’s ability to self-care. In a brief review, the current possibilities of pathogenetic therapy for this disease and prevention of progression and complications were considered. The risks of unjustified surgical interventions leading to increased severity of the course and functional disorders are emphasized. CONCLUSION: The scientific studies conducted in recent years to examine the etiopathogenesis of fibrodysplasia ossificans progressiva enabled the development of effective pharmacotherapy, which provides hope for the possibility of preventing the progression of the disease and improving the quality of life and social adaptation of patients with fibrodysplasia ossificans progressiva.