Education and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome in Norway, a questionnaire based study

OBJECTIVES: To describe education level and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome, and explore factors related to work participation. MATERIALS AND METHODS: Cross-sectional postal survey in 2018. Individuals with molecularly verified diagnosis were recruited through a National Resource Centre for Rare Disorders. A study specific questionnaire included topics on disease burden and validated instruments regarding education level, employment, pain, fatigue, psychological distress, and satisfaction with life. RESULTS: Fifty persons (56% women) aged 18–67 years, participated. Almost 60% reported education level ≤13 years. Two thirds (66%) received disability benefits, 21 (42%) had full-time disability pension. The median age at ending work was 41 years. Full-time employed and students were younger (p = 0.014), less fatigued (p = 0.035), had less sleep problems (p = 0.028) and higher satisfaction with life (p<0.001) than those who received disability pension. A third (32%) were currently or used to be in sedentary work, and 68% currently had or used to be in practical work requiring much standing and walking (23%), much walking and lifting (34%) or heavy manual work (11%). CONCLUSIONS: There is a potential that more adults with these diagnoses can sustain employment for more years. Health and social service follow-up routines and future studies should include details on employment perspectives to reveal those at risk of poor employment and to identify modifiable factors for work participation.