What endocrinologists can do to prevent cardiovascular complications in adults with Prader-Willi syndrome: Lessons from a case series.

Autor:	Pellikaan K; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.; Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, Rotterdam, Netherlands.; Academic Centre for Growth Disorders, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., van Weijen PMH; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., Rosenberg AGW; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.; Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, Rotterdam, Netherlands.; Academic Centre for Growth Disorders, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., Hoekstra FME; Department of Internal Medicine, Reinier de Graaf Hospital, Delft, Netherlands., Vermaak M; Novicare, Best, Netherlands., Oomen PHN; Department of Internal Medicine, Medical Center Leeuwarden, Leeuwarden, Netherlands., van der Lely AJ; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., Cuypers JAAE; Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., de Graaff LCG; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.; Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, Rotterdam, Netherlands.; Academic Centre for Growth Disorders, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.
Jazyk:	angličtina
Zdroj:	Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Mar 24; Vol. 14, pp. 1145066. Date of Electronic Publication: 2023 Mar 24 (Print Publication: 2023).
DOI:	10.3389/fendo.2023.1145066
Abstrakt:	Context: Prader-Willi syndrome (PWS) is a complex rare genetic syndrome. Mortality in patients with PWS is 3% per year. In nearly half of the patients, the cause of death is of cardiopulmonary origin. Prevention, diagnosis and treatment of cardiovascular (CV) disease in PWS adults is complicated by the behavioral phenotype, reduced ability to express physical complaints, high pain threshold and obesity. Objective: To describe the challenges in prevention, diagnosis and treatment of CV disease in PWS adults, in order to increase awareness and improve medical care. Methods: Retrospective study of medical records of adults visiting the Dutch PWS reference center. Results: We describe the challenges encountered during diagnosis and treatment of four PWS adults with heart failure. All had pre-existent peripheral edema. CV risk factors in these patients were obesity (n=4), type 2 diabetes mellitus (n=2), hypertension (n=2), hypogonadism (n=3) and sleep apnea (n=2). Remarkably, all patients were younger than 40 years during their first cardiac decompensation. All patients presented with progressive shortness of breath and/or orthopnea and progressive pitting edema. In 117 controls with PWS without CV problems, 31% had leg edema. Conclusion: Diagnosing CV problems in PWS adults is challenging. Peripheral edema is common in PWS adults without CV morbidity, which makes edema in general a poor marker for heart failure. However, when edema is of the pitting kind and progressive, this is a strong predictor of cardiac decompensation. We provide practical recommendations for diagnosing and treating CV problems in this vulnerable patient population. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Pellikaan, van Weijen, Rosenberg, Hoekstra, Vermaak, Oomen, van der Lely, Cuypers and de Graaff.)
Databáze:	MEDLINE
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