Assessing hip joint-related structure and patient-reported outcomes in people with Marfan syndrome

People with Marfan syndrome (MFS) have clinical symptoms of hip pain, but to date, there is limited knowledge about hip-related structural abnormalities in these patients. Therefore, the purpose of this cross-sectional study was to assess hip-related structural abnormalities and patient-reported outcomes (PRO) in a cohort of patients with MFS compared to healthy controls. Nineteen individuals with MFS (17 females, 39.8±11.5 years) and 19 age, sex, and body mass index-matched healthy, asymptomatic individuals (17 females, 36.2±12.5 years) underwent radiographic imaging and unilateral hip MRI. The Scoring Osteoarthritis with MRI (SHOMRI) technique was used to assess hip-related morphological abnormalities between the MFS and control groups. All participants completed the Hip disability and Osteoarthritis Outcome Score (HOOS) to assess hip-related symptoms, pain, and function during activities of daily living (ADL) and quality of life (QOL). The MFS group exhibited higher lateral center edge angles (p < .001). Despite similar severity of femoral cartilage damage (p = 1.0), the MFS group exhibited a higher severity (p = 0.046) of acetabular cartilage degeneration (1.21±1.08) compared to the controls (0.53±1.02). There were no between-group differences in severity of labral pathology, subchondral cysts, or edema. Individuals with MFS also self-reported significantly lower HOOS symptoms (p = 0.003), pain (p = 0.014), ADL (p = 0.028), and QOL (p = 0.014) sub-scores, indicating worse hip-related PRO in MFS. Our study results suggest that individuals with MFS exhibit early signs of acetabular cartilage degeneration and poor hip-related clinical outcomes compared to healthy individuals. Future work should investigate the underlying biomechanical mechanisms associated with hip joint degeneration in the MFS population.