Symptom and Anatomical Phenotypes Provide Insights Into Interactions of Prolapse Symptoms and Anatomy.

Importance: Women pursue treatment to relieve symptoms, while surgeons repair anatomy, underlining the importance of the relationship between symptoms and anatomy.

Objective: We hypothesized different anatomical and symptom phenotypes associated with pelvic organ prolapse (POP). Our objective was to investigate prevalence of phenotypes to explore associations of symptoms with anatomical defects.

Methods: We defined 420 anatomical phenotypes from combinations of POP Quantification parameters and 128 symptom phenotypes from symptoms described by condition-specific questionnaires (Pelvic Floor Disorders Inventory, Short Form of the Personal Experience Questionnaire). We applied these to an anonymized database of 719 subjects with symptomatic pelvic floor disorders. Bar graphs were used to illustrate the distribution of anatomical and symptom phenotypes, as well as anatomical phenotypes of patients with specific symptoms. We then used biclustering analysis with the multiple latent block model, to identify patterns of clustered groups of subjects and features.

Results: The most common symptom phenotypes have multiple (3-5) symptoms. A third of the theoretical anatomical phenotypes existed in our cohort. Bar graphs for specific symptom composites demonstrated unique distributions of anatomical phenotypes suggesting associations between anatomy and symptoms. Biclustering converged on 2 subject clusters (C1, C2) and 8 feature clusters. Cluster 1 (68%) represented a younger subpopulation with lower stage POP, more stress urinary incontinence and sexual dysfunction (P < 0.001 all). Cluster 2 had more protrusion (P < 0.001) and obstructed voiding (P = 0.001). Features that clustered together, such as stress urinary incontinence and sexual dysfunction, may represent underlying relationships.

Conclusions: We demonstrated a relationship between locations of anatomical POP and certain symptoms, which may generate new hypotheses and guide clinical decision making.