Prader-Willi Syndrome Survival Rates Have Increased, 40-year Survey Shows

A new study found that patients more recently diagnosed with Prader-Willi syndrome (PWS) have higher survival rates than those diagnosed decades ago. This decrease in mortality likely is the result of earlier diagnosis and proactive treatment intervention, researchers said.

The data were published in the journal Genetics in Medicine in a study titled “Survival Trends from the Prader-Willi Syndrome Association (USA) 40-Year Mortality Survey.” 

PWS is a genetic disorder that results in multiple cognitive, behavioral, and hormonal abnormalities. It is the most common genetic cause of life-threatening obesity and is associated with a shortened life expectancy.

To assess the impact of modern interventions on mortality risk among PWS patients, researchers used 40-year survival data from the Prader-Willi Syndrome Association (PWSA).

The PWSA is a nonprofit organization that provides information and support for families and others caring for those affected by PWS. Through a supportive bereavement program, the PWSA since 2001 has collected information regarding causes of death in patients with PWS.

After analyzing different causes of death in 224 men and 199 women with the disease, researchers found that the risk of death due to respiratory failure was greater than all other causes of death. This increase in risk was more pronounced in women.

Recent deaths were classified as occurring between 2000 and 2015. Deaths occurring before 2000 were considered “early” deaths. Researchers found significantly lower survival in the “early” category when looking at all causes of death. The risk of death was 1.5 times higher in the early group compared to the more recent one.

Within the early group, women were more likely than men to die from cardiac arrest, while men were more likely to die due to accidental death.

Patients in the early group also had an increased risk of death due to pulmonary embolism or gastrointestinal (GI) complications, regardless of gender. Between the early group and more recent cohorts, the risk of death from respiratory failure was unchanged.

“We report measurable increases in survival effecting cardiovascular and GI-related causes in PWS most likely attributable to earlier diagnosis and proactive interventions to prevent morbid obesity,” the researchers wrote.

The team also emphasized the need for more research to better understand why survival is not improved in patients suffering from respiratory failure, a major problem affecting PWS patients.