How does Léri‐Weill Dyschondrosteosis Affect Adults’ Health‐Related Quality of Life? – A Norwegian Cross‐Sectional Study Exploring the Physical and Mental Burden

This cross-sectional study investigated mental health conditions, physical functioning, and health-related quality of life (HRQOL) in adults with Léri-Weill dyschondrosteosis (LWD) in Norway. Questionnaires were sent to 61 adults registered at the Norwegian Centre for Rare Diseases. The questionnaires included demographics, medical history, depression (PHQ-8), anxiety (GAD-7), pain catastrophizing, activities of daily living (HAQ), and HRQOL (RAND-36 and PROMIS-29). Results were compared with other skeletal dysplasias (SD) and Norwegian general population norms. Twenty-six participants responded. Mean age was 44 years (range 18-72). A prior psychiatric diagnosis was reported by 42%. Clinically significant symptoms of depression (PHQ-8 ≥ 10) and anxiety (GAD-7 ≥ 10) were reported by 27% and 15%, respectively. Almost all participants reported current pain, most commonly back pain (69%) and pain in the upper extremities (62%). Mental health was lower compared to adults with other SDs and general population norms. Physical functioning was the most affected HRQOL domain and was considerably lower than in the general population. This study highlights both psychological and physical burdens in LWD and underscores the importance of assessing mental health, physical function, pain and HRQOL as part of regular medical follow-up across the lifespan in patients with this condition.