Atypical Presentation of Prader-Willi Syndrome with Cerebral Venous Thrombosis: Association or Fortuity?

Beretta, Luigi; Hauschild, Michael Zwicky; J, Py; Mc, Addor; Maeder, Philippe; Ac, Truttmann

doi:10.1055/s-2007-991149

Cited by 3 publications

(2 citation statements)

References 9 publications

(13 reference statements)

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“…This knowledge could also apply to obesity-related genetic disorders such as PWS, possibly at a young age. For example, a newborn female with PWS has been reported in the literature, with neonatal cerebral venous thrombosis [12].…”

Section: Introductionmentioning

confidence: 99%

Venous Thromboembolism in Prader–Willi Syndrome: A Questionnaire Survey

Manzardo

Heinemann

McManus

et al. 2019

Genes

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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.

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Section: Introductionmentioning

confidence: 99%

Venous Thromboembolism in Prader–Willi Syndrome: A Questionnaire Survey

Manzardo

Heinemann

McManus

et al. 2019

Genes

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“…The increase in the occurrence rates of thrombotic events in the PWS population in our study showed an increasing rate over all age cohorts, with the highest occurrence in the 65+ years age cohort. However, thrombosis has been reported as a risk factor in PWS newborns with cerebral venous thrombosis [20]. Additionally, a study by Butler et al [21] suggested that mean C-reactive protein values, indicators of inflammation, were higher in PWS subjects but similar to those seen in the non-PWS obese individuals with cardiovascular disease.…”

Section: Discussionmentioning

confidence: 96%

Age Distribution, Comorbidities and Risk Factors for Thrombosis in Prader–Willi Syndrome

Butler

Oyetunji

Manzardo

2020

Genes

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Prader–Willi syndrome (PWS) is an imprinting disorder caused by lack of expression of the paternally inherited 15q11.2–q13 chromosome region. The risk of death from obesity-related complications can worsen with age, but survival trends are improving. Comorbidities and their complications such as thrombosis or blood clots and venous thromboembolism (VTE) are uncommon but reported in PWS. Two phases of analyses were conducted in our study: unadjusted and adjusted frequency with odds ratios and a regression analysis of risk factors. Individuals with PWS or non-PWS controls with exogenous obesity were identified by specific International Classification of Diseases (ICD)-9 diagnostic codes reported on more than one occasion to confirm the diagnosis of PWS or exogenous obesity in available national health claims insurance datasets. The overall average age or average age per age interval (0–17 year, 18–64 year, and 65 year+) and gender distribution in each population were similar in 3136 patients with PWS and 3945 non-PWS controls for comparison purposes, with exogenous obesity identified from two insurance health claims dataset sources (i.e., commercial and Medicare advantage or Medicaid). For example, 65.1% of the 3136 patients with PWS were less than 18 years old (subadults), 33.2% were 18–64 years old (adults), and 1.7% were 65 years or older. After adjusting for comorbidities that were identified with diagnostic codes, we found that commercially insured PWS individuals across all age cohorts were 2.55 times more likely to experience pulmonary embolism (PE) or deep vein thrombosis (DVT) than for obese controls (p-value: 0.013; confidence interval (CI): 1.22–5.32). Medicaid-insured individuals across all age cohorts with PWS were 0.85 times more likely to experience PE or DVT than obese controls (p-value: 0.60; CI: 0.46–1.56), with no indicated age difference. Age and gender were statistically significant predictors of VTEs, and they were independent of insurance coverage. There was an increase in occurrence of thrombotic events across all age cohorts within the PWS patient population when compared with their obese counterparts, regardless of insurance type.

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