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Open AccessArticle

Venous Thromboembolism in Prader–Willi Syndrome: A Questionnaire Survey

Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, USA
Prader-Willi Syndrome Association (USA), Sarasota, FL 34238, USA
Department of Pediatrics, Bronson Hospital, Western Michigan University, Kalamazoo, MI 49008, USA
Author to whom correspondence should be addressed.
Genes 2019, 10(7), 550;
Received: 5 June 2019 / Revised: 12 July 2019 / Accepted: 16 July 2019 / Published: 19 July 2019
(This article belongs to the Special Issue Genetics of Prader-Willi syndrome)
Prader–Willi Syndrome Association (USA) monitors the ongoing health and welfare of individuals with Prader–Willi syndrome (PWS) through active communication with members by membership surveys and data registries. Thromboembolism and blood clots have emerged in clinical studies as significant risk factors for injury and death in PWS. A 66-item questionnaire was developed by a panel of PWS medical and scientific experts, with input from Prader–Willi Syndrome Association (USA) leadership, so as to probe their membership on the frequency, risk, and protective factors for venous thromboembolism, pulmonary embolism, and related findings. The characteristics of those with and without a reported history of blood clots and related health factors were tabulated and analyzed. Responses were obtained for 1067 individuals with PWS (554 females and 513 males), and 38 (23 females and 15 males) had a history of blood clots. The individuals with clots did not differ by gender, but were significantly older 32.8 ± 15 years vs 20.4 ± 13 years, and were more likely to have a reported history of obesity (76%), edema (59%), hypertension (24%), vasculitis (33%), and family history of blood clots (33%) than those without clots. Growth hormone treatment was more common in individuals without clots. The risk factors for thromboembolism in PWS overlap those commonly observed for the general population. View Full-Text
Keywords: Prader–Willi syndrome; thromboembolism; risk factors; vasculitis; blood clots Prader–Willi syndrome; thromboembolism; risk factors; vasculitis; blood clots
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Manzardo, A.M.; Heinemann, J.; McManus, B.; Loker, C.; Loker, J.; Butler, M.G. Venous Thromboembolism in Prader–Willi Syndrome: A Questionnaire Survey. Genes 2019, 10, 550.

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