31 Chapter 2 Introduction Osteogenesis imperfecta (OI) is an inherited connective tissue disorder primarily characterized by susceptibility to fractures. The prevalence of OI has been reported to be 6 to 7 individuals per 100,000 population 1. OI is a clinically and genetic heterogeneous disorder. Clinically, OI is classified in five types (OI types 1 to 5) 2. According to the clinical severity and characteristics, OI is further classified into five subtypes: nondeforming OI with blue sclerae (type 1), perinatally lethal OI (type 2), progressively deforming OI (type 3), common variable OI (type 4), and finally OI with calcification in the interosseous membranes (type 5) 2. Patients can have blue sclerae, dentinogenesis imperfecta, hearing loss, joint hypermobility, and short stature as secondary features 3. Symptoms such as hearing loss, physical restrictions caused by pain, bone deformation as a result of (recurrent) fractures can increase in severity with age and can affect the health-related quality of life (QoL) in patients with OI. No cure for OI exists; treatment focuses on management of symptoms. Orthopedic and fracture treatment, physical therapy, special dental care, treatment for hearing loss, and medical treatment for low BMD are common therapies. However, there has been less attention paid to the psychosocial impact of living with OI in adults. Today, it is commonly recognized that measuring the QoL in people with OI can provide new information to improve treatment and subsequently the QoL of patients. Here, we report on the QoL of 322 patients with a diagnosis of OI type 1, 3, and 4 in the Netherlands compared with the general Dutch population. We suspected that the QoL in patients with OI would be decreased compared with controls. To measure the QoL in a patient cohort with OI, we decided to use the validated self-reported health assessment tool, the SF-36 questionnaire 5,6, which is frequently used in international studies. The SF-36 measures QoL across eight different subscales. We compared the SF-36 subscales against the different OI-type groups and with the QoL data of two Dutch control groups, including different age categories. Patients and Methods Study design and population A cross-sectional cohort study was undertaken in the National Expert Center for Adults with Osteogenesis Imperfecta, Isala Hospital, Zwolle, the Netherlands. In this center, patients with a clinical and usually confirmed molecular diagnosis of OI are assessed by the multidisciplinary OI team.
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