Abstract
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.
Highlights
Prader–Willi syndrome (PWS) is a neurodevelopmental genomic imprinting disorder that results from the absence of paternally expressed imprinted genes at the 15q11.2–q13 chromosome region due to a paternal deletion of this region (60% of cases), maternal uniparental disomy 15 (36%), or an imprinting defect (4%) [1]
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)
1315 patients with PWS had a second form of insurance selected to represent the average age and distribution with gender ratio seen in the PWS population coverage (e.g., Medicaid), of which 54% were males and 46% were females
Summary
Prader–Willi syndrome (PWS) is a neurodevelopmental genomic imprinting disorder that results from the absence of paternally expressed imprinted genes at the 15q11.2–q13 chromosome region due to a paternal deletion of this region (60% of cases), maternal uniparental disomy 15 (36%), or an imprinting defect (4%) [1]. Comorbidities that are commonly associated with obesity in PWS include respiratory problems (pulmonary embolism, respiratory failure, and pulmonary hypertension) and deep venous thrombosis [5,6,7,8,9]. An increased risk of venous thromboembolisms (VTEs) was recently reported in PWS patients by using Prader–Willi syndrome Association (USA) syndrome-specific database of deaths between. Seven percent of all deaths in the reported PWS survey commonly found in adulthood were attributable to pulmonary embolism, which represented only a quarter of the most common causes of death that were related to respiratory failure [5,6]. The reported deaths that resulted from respiratory failure could be secondary to undiagnosed pulmonary embolism and may vary by gender and/or age of patient [5]. Venous thrombosis, and/or pulmonary are recognized as contributors to morbidity and mortality in PWS in the United States
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