Samenvatting

Objective Major issues in children with Marfan syndrome (MFS) are pain, fatigue and joint hypermobility which might influence functional ability. We recently studied these aspects in children with Ehlers-Danlos syndrome hypermobility type (EDS-HT) and hypermobility spectrum disorders (HSD). What can be learned from this research regarding diagnostics and treatment for children with MFS and children with EDS other than EDS-HT? Methods We followed 101 children and adolescents with EDS and HSD for three years and studied the presence of pain, fatigue and functional ability as well as the presence of multi-systemic complaints (eg. dysautonomia). In 255 adolescents and adults with EDS and HSD, we studied the presence of pain, fatigue and functional ability. In 19 children and their parents with Marfan syndrome, we performed qualitative research regarding pain, fatigue and functional ability. Results Children with a high incidence of multi-systemic complaints, and significant pain and fatigue at baseline were most likely to have a deteriorating trajectory of functional impairment. Besides joint hypermobility and chronic pain, generalized hyperalgesia was also found, possibly indicating central nervous system involvement. We stated that in children and adolescents with EDS-HT and HSD, identifying risk profiles are important to clarify the pathological mechanisms involved, and to develop interdisciplinary treatment strategies. Parents perceive a large impact of MFS on daily life of children, parents and family. Adolescents with MFS perceived problems in keeping up with peers in school, work, sports, leisure and friendships/relationships and perceived to be and feel different from peers due to appearance and disabilities. Conclusion Based on lessons learned in EDS-HT and HSD, we designed a longitudinal follow-up study in 150 children and adolescents with MFS and EDS in the Netherlands and Belgium. Disease characteristics, functional ability, exercise capacity, symptoms of pain and fatigue and psycho-social wellbeing will be studied. We will identify risk profiles for functional decline and develop therapeutic rehabilitation strategies. The first results of qualitative research in MFS adolescents warrants awareness and individual tailored physical, psychosocial, educational and environmental support programs to improve physical functioning and empowerment of teenagers with MFS. Longitudinal studies have been started.