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

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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.

About the authors

Aleksandr F. Kolondaev

N.N. Priorov Central Institute of Traumatology and Orthopedic

Email: osteopathology6@mail.ru
ORCID iD: 0000-0002-4216-8800
SPIN-code: 5388-2606

MD, Cand. Sci. (Med.)

Russian Federation, 10 Priorova str., Moscow, 115172

Svetlana S. Rodionova

N.N. Priorov Central Institute of Traumatology and Orthopedic

Author for correspondence.
Email: rod06@inbox.ru
ORCID iD: 0000-0002-2726-8758
SPIN-code: 3529-8052

MD, Dr. Sci. (Med.), professor

Russian Federation, 10 Priorova str., Moscow, 115172

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Supplementary files

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2. Fig. 1. Radiograph of the elbow joint: massive heterotopic ossification of the shoulder and forearm causing contracture of the elbow joint.

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3. Fig. 2. Radiograph of the shoulder joint: heterotopic ossificatum emanating from the humerus and restricting movement in the shoulder joint.

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4. Fig. 3. Chest radiograph: multiplanar fixed deformity of the spine, multiple heterotopic ossifications of the chest and paravertebral region, thoracic deformity.

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5. Fig. 4. CT scan of the cervical spine, sagittal view: synostosis of the bodies and posterior elements of the C2-C5 vertebrae, heterotopic ossifications of the neck muscles.

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6. Fig. 5. Three-dimensional CT reconstruction of the cervical spine, anterior view: synostosis of the C2-C5 vertebrae.

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7. Fig. 6. Radiography of hip joints: marked synovial chondromatosis of both hip joints, heterotopic ossificates in the pelvis and hip joints.

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8. Fig. 7. Three-dimensional CT reconstruction of the hip joints, anterior view: marked synovial chondromatosis.

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9. Fig. 8. Three-dimensional CT reconstruction of the hip joints, posterior view: ossificatum is identified causing synostosis between the sacrum and the proximal femur.

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