Abstract
Pain in Marfan syndrome is common, although frequently under diagnosed and undertreated. Few studies have investigated the treatment of pain symptoms in Marfan syndrome and no study has reported on the use of opioid therapy in this patient population. This study aims to characterize the use of pain treatment interventions, including opioid use in individuals with Marfan syndrome. We hypothesize that opioid use would be associated with worse pain and greater psychological burden, and that pain-related disability would moderate opioid use.
Highlights
Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the gene encoding Fibrillin-1 (FBN1)
This study aims to characterize the use of pain treatment interventions, including opioid use in individuals with Marfan syndrome
Consistent with other pain conditions, individuals with MFS who use opioids report more severe and frequent pain compared to non-opioid users and perceive greater pain-related disability and psychological burden
Summary
Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the gene encoding Fibrillin-1 (FBN1). MFS is a common Mendelian syndrome with a prevalence of 1 in 5000, no predilection for gender or ethnicity, and wide phenotypic variability [2]. The syndrome involves multiple organs affecting cardiovascular, pulmonary, ocular, nervous, and musculoskeletal systems. Pain symptoms are common and numerous in MFS and may arise from various sources. Musculoskeletal involvement is characterized by bony overgrowth, reduced bone mass, reduced muscle mass, and joint laxity [3,4]. But are not limited to, degenerative arthritis, chest deformities, kyphosis, ligament injuries, and dislocations. While the pathophysiology of pain in MFS is unknown, such clinical manifestations may play a role in its onset and persistence [5]
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