Prader-Willi Syndrome and Uncontrolled Obesity: Fatal triad of heart failure, respiratory failure and structural damage, case report.
Prader-Willi Syndrome: Recurrent Cellulitis as a Trigger for Fatal Cardiorespiratory Failure - Case Report
DOI:
https://doi.org/10.56754/0718-9958.2025.254Keywords:
Prader-Willi syndrome, Obesity, Hyperphagia, Heart failure, Respiratory failure, HypercapniaAbstract
Prader-Willi syndrome (PWS) is a disease with high cardiopulmonary risk caused by morbid obesity, exacerbated by hyperphagia and low therapeutic adherence. A 25-year-old male patient with PWS, obesity (BMI 45.7 kg/m²), type 2 diabetes mellitus (HbA1c 10.3%) and congestive heart failure developed acute respiratory failure, cardiac decompensation (proBNP 2056 pg/mL) and congestive liver disease, evolving to refractory hypercapnia (pCO2 117 mmHg) and death despite noninvasive ventilation and intensive support. Persistent cellulitis and hypernatremia were triggers. The present case highlights the importance of early metabolic control that could prevent fatal outcomes in PWS. Echocardiography, which demonstrated type I diastolic dysfunction, as well as proBNP, are essential for the diagnosis and follow-up of heart failure with preserved ejection fraction. In addition, early detection of hypoventilation by polysomnography would be required for noninvasive ventilation to be effective and obtain better results. Hyperphagia, aggravated by neurocognitive impairment, requires multidisciplinary interventions (nutrition, behavioral therapy, supervised environments), mostly hampered by different social determinants. The interaction of metabolic and structural comorbidities would highlight the need for personalized and sustained interventions to improve prognosis in this high-risk group.
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Copyright (c) 2025 Javiera Carolina Medina Palma, Sebastián Andrés Lerzundi Diaz, Josefa Carolina Correa Castro, Francisco Ignacio Contreras Brandt
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