Introduction: The increased incidence of venous thromboembolism (VTE) in Klinefelter Syndrome (KS or 47,XXY), a chromosomal disorder affecting up to 1 in 500 men, has been well documented in clinical literature. Despite studies reporting 5-20 times higher incidence of VTE versus the general population, the aetiology behind this phenomenon in KS is unknown. Meanwhile, testosterone therapy (TT), a treatment of primary hypogonadism in KS, has come under scrutiny regarding is association with VTE. Accordingly, does the use of TT in KS further increase the risk of VTE in an already susceptible population, and if so, are the patients aware? This study aims to assess the level of awareness amongst KS patients regarding their increased risk of VTE, as well as the potential further risk imposed on them by undergoing TT.
Methods: From March 2020- March 2021 members of the Klinefelter Syndrome Association (KSA), and patients at the National Klinefelter clinic at Guys’ and St Thomas’ hospital trust were invited to complete an online questionnaire. The questionnaire collected data regarding VTE incidence, details of TT and knowledge of increased VTE risk, including the methods by which they were made aware (i.e., specialist clinician, KSA or other KS patients).
Results: 281 KS patients responded to the survey. Of the 281 respondents, 188 (67%) reported having no awareness of the increased risk of VTE associated with KS or potential risk with TT, 27 (10%) were aware of the risk associated with both, 14 (5%) were aware of the risk of VTE associated with the condition only, and 7 (2%) respondents were aware of only the potential VTE risk that TT carries. Of those who included the source of their information (n=16), 9 (56%) had been made aware by clinicians, 4 (25%) found the information themselves, and 1(6%) made aware by the KSA.
Conclusions: This study demonstrates poor awareness of the known VTE risks in KS and the potential VTE risks of TT within this cohort. Patients not informed of the inherent risks associated with their condition may be less vigilant to complications, unaware of lifestyle decisions affecting risks, and not able to make informed decisions about medical care. Further studies are needed to understand the mechanisms leading to the increased VTE rate in KS. Moreover, investigation into the relationship between TT and VTE is warranted to weigh the benefits of TT in VTE-prone patient groups like KS. Educational materials, such a patient information pamphlet distributed in clinic and via associations like the UK’s KSA, are also needed to enhance awareness amongst KS patients of their VTE risk and potentially increased risk with TT.