Long-term noninvasive ventilation in children with fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant rare disease characterized by progressive episodic multi-focal heterotopic ossification of skeletal muscle, ligaments, tendons, and fascia, associated with congenital malformation of the great toes. Progressive thoracic deformity with scoliosis is present in approximately 65% of patients, causing restrictive lung disease, respiratory failure, and premature death. We report 3 children who developed severe scoliosis and sleep-disordered breathing with nocturnal hypoventilation, and were treated with long-term noninvasive ventilation (NIV) at home. Despite a non-optimal correction of nocturnal alveolar hypoventilation due to the severity of the disease, tolerance and compliance with NIV were excellent, with an improvement in sleep quality, a reduction in acute respiratory exacerbations requiring hospitalization, the maintenance of a good quality of life, and long-term survival. In conclusion, patients with FOP should be screened for nocturnal hypoventilation and recurrent or severe respiratory exacerbations, in order to propose long-term NIV, which may be associated with a better quality of life, and may eventually prolong life expectancy, even in case of uncomplete correction of nocturnal gas exchange.