Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center

Abstract

BackgroundIn the last 20 years, substantial improvements have been made in the diagnosis, treatment and management of patients with Prader-Willi syndrome (PWS). Few data on causes of death are available since those improvements were made. Our study assessed the causes of death among French patients with PWS over the first 11 years of experience of the nationwide French Reference Center for PWS (FRC-PWS).MethodsOur study relied on two sources of mortality information at national level between 2004 and 2014: The French Epidemiological Centre for the Medical Causes of Death (CépiDc) Registry and the FRC-PWS database. Causes of death were classified into seven categories: respiratory, cardiovascular, gastrointestinal, severe infection, sudden death, other causes, and unknown. Descriptive statistics were calculated separately for children (< 18 years-old) and adults (≥18 years-old).ResultsOne hundred and four deaths were identified in France from 2004 to 2014. The median age at death was 30 years, ranging from less than 1 month to 58 years. Seventeen deaths occurred in patients under 18 years, with 70% of them in children under 2 years. Respiratory causes accounted for more than 50% of the deaths in patients with PWS in both children and adults. Both cause and age of death did not significantly differ according to gender or genetic subtype.ConclusionsPatients with PWS die prematurely due to a respiratory cause in most cases at all ages. In those adult patients with data on obesity, 98% were reported to be obese.

MECHANISMS IN ENDOCRINOLOGY: Update on treatments for patients with genetic obesity

“…Mortality from respiratory causes was predominant in children and adults. Here, the causes and age of death were independent of the type of the genetic abnormality (48).…”

Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment

“…Annual mortality in adults with PWS is high (3%) ( 7 , 8 ) compared with 1.3% annual mortality in non-PWS adults with an intellectual disability ( 9 ). More than half of these deaths are caused by cardiopulmonary pathology ( 8 , 10 ) and another 7% of deaths are directly related to obesity ( 8 ). Seventy-eight percent of deaths in patients with PWS are unexpected ( 11 ).…”

Clinical Observations and Treatment Approaches for Scoliosis in Prader–Willi Syndrome

“…The decreased respiratory status of children and adults is the more important issue, with elements of sleep apnea (both obstructive and central), weak respiratory musculature, and nocturnal hypoventilation [15][16][17][18]. Scoliosis and/or kyphosis are often indicated as significant co-morbidities for respiratory compromise, by virtue of associated chest deformities, although conclusive proof is still lacking [10,[19][20][21][22][23]. People with PWS have a decreased life expectancy, with survivorship analysis varying from 87% at 35 years to 71% at 40 years of age, and a mortality rate of 99% by 60 years [24][25][26].…”