Venous Thromboembolism in Prader–Willi Syndrome: A Questionnaire Survey

Manzardo, Ann M.; Heinemann, Janalee; McManus, Barbara; Loker, Carolyn; Loker, James; Butler, Merlin G.

doi:10.3390/genes10070550

Cited by 13 publications

(19 citation statements)

References 13 publications

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“…DVTs showed the highest percentage at 21%. Obesity was the most common finding that was associated with PE and that was identified in the previous PWS survey of blood clots reported by Manzardo et al [6].…”

Section: Have Suggested An Important Associationmentioning

confidence: 79%

“…Genes 2020, 11, 67 2 of 11 between obesity and early death in adults with PWS [4]. 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].…”

Section: Have Suggested An Important Associationmentioning

confidence: 99%

“…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 1973 and 2015 [5,9]. 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]. However, 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].…”

Section: Have Suggested An Important Associationmentioning

confidence: 99%

“…As PWS is estimated to affect over 500,000 people worldwide and risk factors including obesity are on the rise, there is no doubt that the associated, marked obesity in PWS predisposes patients to thrombosis [4]. In addition, a venous thrombosis survey reported by Manzardo et al [6] was carried out in more than 1000 individuals with PWS in the United States with an age range of 0-63 years. This survey revealed the presence of thrombosis in 3% of cases, with the incidence greater in females than males.…”

Section: Have Suggested An Important Associationmentioning

confidence: 99%

“…This survey revealed the presence of thrombosis in 3% of cases, with the incidence greater in females than males. Thirty-three of the identified 38 clotting events occurred at ages greater than 17 years [6]. The occurrence of these events was associated with a greater age and an increased weight or obesity, as determined by the body mass index (BMI).…”

Section: Have Suggested An Important Associationmentioning

confidence: 99%

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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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Section: Have Suggested An Important Associationmentioning

confidence: 79%

Section: Have Suggested An Important Associationmentioning

confidence: 99%

Section: Have Suggested An Important Associationmentioning

confidence: 99%

Section: Have Suggested An Important Associationmentioning

confidence: 99%

Section: Have Suggested An Important Associationmentioning

confidence: 99%

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

Butler

Oyetunji

Manzardo

2020

Genes

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The importance of gynecological examination in adolescent girls and adult women with Prader–Willi syndrome

Srebnik

Kalifa

Hirsch

et al. 2023

American J of Med Genetics Pt A

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Current published guidelines for routine care of women with Prader–Willi syndrome (PWS) do not include recommendations for gynecologic examinations. We describe our experience with gynecological examinations in women with PWS and offer recommendations for routine health care for these patients. Data were collected on all 41 PWS females ages ≥12 year, followed in our national Israeli multidisciplinary clinic between the years 2011 and 2022. Menstrual data and findings on external gynecological examination, including evaluation of the vulva and hymen were recorded at yearly visits. During the gynecological evaluation the topic of sexual education was discussed. Pelvic ultrasound, specifically for antral follicular count, was performed for those visiting the clinic during 2020–2022. Blood samples for luteinizing hormone (LH), follicular stimulating hormone (FSH), and estradiol were obtained routinely and DEXA scans for bone density were done when indicated. Of the 41 women, (median age at start of follow‐up 17 years, range [12.3–39], BMI 30.4 kg/m2 [IQR 23.5–37.1]), 39 women agreed to external gynecological examination. Eleven women (27%) had spontaneous menses, with menarche at the age of 14 to as late as 31 years. The hymen was intact in all except one. Poor hygiene was observed in eight women, three women with vulvovaginitis, and five with irritated vulva related to poor hygiene. Gynecological ultrasound was performed in 27 women. In 22, endometrial thickness was less than 5 mm. The median antral follicular count (AFC) was 6 (<10th percentile for age). No correlation between AFC and menstruation or BMI was found. Mean FSH level was 5.7 ± 3.6 IU, LH was 2.29 ± 2.23, and estradiol was 128 ± 76 pmol/L. Data on DEXA measurements were available in 25 women aged 16–39. Median spine T score was −1.3 (range between 0.5 and −3.7), and hip T score was −1.2 (range between 0.8 and −3.3). A negative correlation was found between endometrial thickness and the presence of osteopenia or osteoporosis (r = −0.5, p = 0.013). Despite our recommendations, only eight of 14 women agreed to hormonal treatment or contraception. One woman who received treatment had a thromboembolic event. Routine health care for women with PWS should include gynecological examinations. The gynecological evaluation should include external genital examination, assessment of hygiene, obtaining a blood sample for hormone levels, and documenting a history of sexual experience or sexual abuse. Hormonal treatment or contraception should be offered when appropriate.

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