Risk factors in Prader-Willi Syndrome

Serious illness or injury may be masked in people with Prader-Willi syndrome because of atypical biological responses:

Pain: A high pain threshold means people may not complain of pain even in serious injuries and illness. Complaints of pain should be taken seriously.

Temperature: In infections individuals may not develop a high temperature or may have a very low temperature. 

Failure to vomit: Many children and adults with PWS do not vomit which means that the presence / absence of vomiting is not a good guide to illness. However, some individuals with PWS do vomit.

Gastric Dilatation: There are a few case reports of severe gastric dilatation in people with PWS. In PWS, the stomach may empty more slowly than normal, so food and gas can build up. In rare cases, the stomach can become dangerously stretched.

This can cause people to go into shock and be life-threatening. This requires urgent medical attention.

Failure to vomit: Many children and adults with PWS do not vomit which means that the presence / absence of vomiting is not a good guide to illness. However, some individuals with PWS do vomit.

Gastric rupture:  A tear in the stomach is rare but there is an increased risk of this in PWS. It is life threatening and requires emergency medical treatment. Symptoms may or may not include vomiting, which is otherwise uncommon in PWS, and of blood, abdominal pain or no pain, sudden pallor and collapse or shock.

This may or may not be a consequence of a binge-eating episode.

Binge-eating episodes: If carers suspect that a binge-eating episode has occurred, they should be vigilant in their immediate supervision because of the risks of choking, gastric dilatation or gastric rupture, and seek emergency medical care if in doubt. They need to inform the emergency services about the association of these risks with PWS because professionals may be unfamiliar with PWS.

Choking : This is an increased risk in PWS (due to factors including rapid eating, thick saliva, not enough drink with food, weakness of pharyngeal muscles, and gastroesophageal reflux (GOR)). Families and carers need to be aware of emergency care for choking: What to do when someone is choking Choking first aid advice | British Red Cross.

Skin picking and sepsis:  Skin picking is a very common and difficult behaviour in PWS that is not fully understood. Carers and clinicians need to know or be informed that this can lead to local infection and to scarring and that occasionally it has resulted in sepsis with devastating outcomes. Skin picking risks must therefore be recognised and actively managed by clinicians in primary and secondary care.

Emergency information for healthcare staff

Take this document with you if you have to seek emergency care. It details the risk factors and features of PWS at a glance for medical staff to refer to. 

• Information for hospital staff (PDF)