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Hypercoagulability in Prader-Willi Syndrome: A case-control study exploring coagulation profiles and thrombotic risk
Griselda Vallès-Cardona1, Assumpta Caixàs2, Irene Berges2
1Pediatric Department, Hospital Universitari Parc Taulí, Institut d'Investigació i Innovació Parc Taulí I3PT-CERCA, Universitat Autónoma de Barcelona, Sabadell, Spain.
Summary
Individuals with Prader-Willi syndrome (PWS) exhibit a unique hypercoagulable state, independent of obesity. This finding suggests a need for tailored thrombotic risk assessment and preventative strategies in PWS patients.
Area of Science:
- Endocrinology
- Hematology
- Genetics
Background:
- Prader-Willi syndrome (PWS) is linked to severe obesity and endocrine issues, increasing cardiovascular risks.
- A higher incidence of thromboembolic events in PWS suggests a potential intrinsic hypercoagulable state.
Purpose of the Study:
- To investigate the hemostatic profile in Prader-Willi syndrome patients.
- To determine if PWS is associated with a hypercoagulable state independent of obesity.
Main Methods:
- A case-control study involving 49 PWS patients (pediatric and adult) and 85 matched controls.
- Comprehensive hemostatic assessment including coagulation tests, thrombophilia screening, factor VIII, von Willebrand factor (vWF:Ag), platelet function analysis (PFA), thrombin generation test (TGT), and thromboelastography (TEG).
Main Results:
- Standard coagulation and thrombophilia tests were mostly normal.
- Elevated D-dimer and vWF:Ag levels were observed in PWS patients, unrelated to obesity or inflammation.
- Thromboelastography revealed a hypercoagulable pattern in nearly 90% of PWS participants, irrespective of BMI or metabolic status.
Conclusions:
- PWS is associated with a distinct hypercoagulable profile, likely due to endothelial dysfunction rather than typical thrombophilia.
- This hypercoagulable state in PWS is not solely explained by obesity.
- Personalized thrombotic risk assessment and preventive strategies are warranted for PWS individuals.
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