Prevalence of pelvic floor disorders amongst individuals with Marfan and Loeys-Dietz Syndromes

Objectives: To determine the prevalence of symptoms related to pelvic floor disorders amongst biological females diagnosed with either Marfan Syndrome (MFS) or Loeys-Dietz Syndrome (LDS).

Methods: Cross-sectional data were obtained from an anonymous online survey, which included the PFDI-20. Respondents were solicited by posting the survey to The Marfan Foundation’s and The Loeys-Dietz Foundation’s websites, Twitter, and Facebook. Descriptive statistics were generated to describe the range of PFDI-20 scores, in addition its subscales [the Pelvic Organ Prolapse Distress Inventory (POPDI-6), the Colorectal-anal Distress Inventory (CRADI-8), and the Urinary Distress Inventory (UDI-6)] in this population. A previously reported PFDI-20 reference range with a median of 8.9 and an interquartile range of (IQR) of 31.3 was used to compare our findings to the general population. Simple linear regression was performed to analyze the correlation of PFDI-20 scores with established risk factors for pelvic floor disorders.

Results: A total of 65 individuals responded to the survey, 31 diagnosed with MFS and 34 diagnosed with LDS. The average age of participants was 37.1 (SD = 12.6), and the median Body Mass Index (BMI) was 23.2 (IQR = 6.35). Median PFDI-20 scores for individuals with MFS and LDS were higher than those of the general population (29.2, IQR = 51.04 and 42.7, IQR = 76.6, respectively). Of the cohort, 41.9% (n=13) of respondents with MFS and 55.9% (n=19) of respondents with LDS had PFDI-20 scores greater than 40 (representing moderate to severe distress), while only 19.3% (n=6) of those with MFS and 20.6% (n=7) of those with LDS had seen pelvic floor specialists, and 9.7% (n=3) of those with MFS and 14.7% (n=5) of those with LDS had received any type of intervention for their symptoms. Several established risk factors for pelvic floor disorders including BMI, gravidity and parity were significantly positively correlated with PFDI-20 scores for respondents with LDS (P=0.005, P=0.04. P=0.01, respectively), however these risk factors were not significantly correlated with PFDI-20 scores in respondents with MFS (P=0.65, P=0.83, P=0.56, respectively).

Conclusions: In a cross-sectional survey of individuals with MFS and LDS, the prevalence of reported pelvic floor symptoms was higher than what has been reported in the general population. However only a small percent of these individuals had been evaluated or received intervention for pelvic floor disorders, potentially suggesting an unmet need. Individuals with LDS were more likely than those with MFS to have known risk factors of pelvic floor disorders correlate with their reported symptoms.