Alexander W. Pastuszak

Background Peyronie's disease (PD) has previously been observed to co‐aggregate in a small number of first‐degree relative pairs (e.g., father–son). However, the familial aggregation of PD in more distant relatives, as well as the aggregation of Dupuytren's disease (DD) in probands and relatives, has not been thoroughly investigated. Objective This study explored the evidence for familial clustering of PD and DD in close and distant relatives. Materials and methods The Utah Population Database, which includes genealogy information linked to electronic medical records (available since 1995), was used to identify men and their relatives with PD and DD based on ICD9/10 codes. All cases were required to have high‐quality genealogy data. We estimated relative risk (RR) of PD and DD in first‐ through fifth‐degree relatives compared to matched population rates of disease. We also investigated the average relatedness of cases compared to the average relatedness of sets of matched controls. Outcome measures include estimation of relative risk and excessive relatedness as measured by a Genealogical Index of Familiality (GIF) analysis. Results We analyzed 307 individuals with PD, and their first‐ through fifth‐degree relatives. Approximately 0.12% of the population had PD, 95% of these were diagnosed over the age of 30 years (age range: 10–92 years), and 1.3% of PD probands had a comorbid diagnosis of DD. RR estimates for PD were significant for first‐ and fifth‐degree relatives. RR estimates for DD were significant only for probands. The average relatedness of cases was significantly greater than matched controls, even after removing first‐ and second‐degree relatives. We also found that 74.9% of identified PD probands belonged to pedigrees with a statistical excess of PD. Conclusion Despite the low prevalence of PD in our healthcare records, the results provide evidence that support a genetic contribution to at least a subset of PD cases.