Osteogenesis Imperfecta Is More Than a Pediatric Disorder—There Is a Need for Adult Care Evidence to Guide Clinicians.

Résumé fourni par la source

The term osteogenesis imperfecta (OI) is used to describe a group of rare hereditary diseases characterized by increased bone fragility, ligament laxity, dentinogenesis imperfecta, hearing loss, and blue sclera (1). OI most commonly occurs as the result of pathogenic variants in genes involved in the synthesis, posttranslational modification, or processing of type I collagen, a major constituent of bone and many other connective tissues. While most attention has focused on skeletal involvement in OI, extra-skeletal manifestations are also common (1). Recent epidemiological studies have shown an increased prevalence of age-related diseases in adults with OI, such as osteoarthritis, glaucoma, cataract, and respiratory and cardiovascular disease (2-4). In the patient community, pain and the influence of OI on quality of life is gaining much attention. Given that the median age at death is 72.4 years in men and 77.4 years in women with OI (4), it is likely that most adults with OI will experience a reduction in quality of life associated with these nonskeletal conditions. The occurrence of these health problems also raises the possibility that OI may be accompanied by an accelerated aging phenotype in nonskeletal tissues.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.