Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center | Orphanet Journal of Rare Diseases | Full Text

Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center | Orphanet Journal of Rare Diseases | Full Text

Orphanet Journal of Rare Diseases

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

• Dibia Liz Pacoricona Alfaro, 
• Perrine Lemoine, 
• Virginie Ehlinger, 
• Catherine Molinas, 
• Gwénaëlle Diene, 
• Marion Valette, 
• Graziella Pinto, 
• Muriel Coupaye, 
• Christine Poitou-Bernert, 
• Denise Thuilleaux, 
• Catherine Arnaud & 
• Maithé Tauber 

Orphanet Journal of Rare Diseases volume 14, Article number: 238 (2019) Cite this article

Abstract

Background

In 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).

Methods

Our 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).

Results

One 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.

Conclusions

Patients 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.