Health care in PWS

People with PWS are generally as healthy as the general population, and may also be prone to the same illnesses and diseases. However there are some unusual features of PWS which require special attention and may not always be evident to those who have little experience of the syndrome. The following is a list of those features. Please note that they vary in degree between individuals with PWS and not all people with PWS will necessarily have all the features.

High pain threshold

Individuals with PWS frequently have decreased sensitivity to pain. Therefore, known injuries must be assessed for more serious problems, and signs of unreported injuries should be sought. In the absence of a verbal complaint of pain, other symptoms of specific injuries should be evaluated.

Bone fractures

Due to the high pain threshold, it is not unusual for a person with PWS to have an undetected broken bone. Following a fall or other injury, a person with PWS should be closely monitored for a change in walking or arm movement. Observe for deformities, swelling or bruising.

Bruising

Many individuals with PWS bruise easily but, because of the high pain threshold, are often unable to say how they came by the bruise.

Vomiting/abdominal pain

Individuals with PWS do not commonly exhibit a vomiting reflex. If a person with PWS suddenly reports abdominal pain or bloating, is vomiting, or has abdominal distention, there may be life-threatening bowel inflammation or necrosis, and emergency surgery may be needed. It also may be a warning that the person has ingested a large amount of food. In either case, death can occur in hours. These abdominal conditions are more prevalent in a teenager or adult with PWS. Recent reports have highlighted deaths due to "binge-eating", especially when the person with PWS usually has their food intake well-controlled and does not have a significant weight problem (see below).

Food foraging

If left unsupervised, an individual with PWS may consume life-threatening amounts of food. A dramatic weight increase within a day - especially if coupled with reports of stomach distress or vomiting - may be a sign that the person is severely ill. Loss of appetite can also be a sign of illness. Stomach rupture is possible. Diarrhoea or significant fluid retention are also reasons for concern. People with PWS can be quite indiscriminate in what they eat, eg poisonous berries, out-of-date food, frozen food, food from waste bins or off the ground. There are reports of people with PWS eating large quantities of items like salt or shampoo, though this is not thought to be very common. The lack of vomiting reflex (see above) may not alert the observer to the fact that the person has ingested items such as these.

Excessive fluid intake

There have been a few reports of people with PWS drinking excessive amounts of fluid, leading to potentially fatal low sodium and potassium levels.

Temperature

An individual with PWS may not be pyrexial even when seriously ill and may run dramatically below-normal temperatures at times. Even slight temperature elevations should be considered a warning sign.

Obesity-related problems

High blood pressure, diabetes, congestive heart failure and respiratory failure are the most common problems for the child/adult who is significantly overweight.

Risk of choking

There is a risk of choking arising from people with PWS trying to eat food quickly, either because they habitually do this, or because they are trying to disguise the fact that they have taken food to eat which they should not have done. 

Respiratory problems/Obstructive sleep apnoea

Excessive weight in addition to the hypotonia of PWS can lead to serious respiratory problems. Sleep apnoea is common and but may also occur in those who are not seriously overweight.

Skin lesions/cellulitis

A common feature of PWS is skin-picking. A person with PWS should be carefully monitored for open, raw sores and infection. If there are open sores, staff should be alert for signs of acute infection. A propensity to cellulitis in those who are overweight may be exacerbated by these skin-picking behaviours.

Anaesthesia

There is nothing inherent in PWS which gives cause for concern with the administration of anaesthesia. However, individual health problems related to PWS should be taken into account. These include:

• obesity (complications caused by obstructive apnoea, pulmonary hypertension, altered blood oxygen or blood carbon dioxide levels, significant oedema).
• high pain threshold (see above)
• temperature instability - parent or carer should be asked for information about patient's usual temperature
• thick saliva - may complicate airway management
• food seeking behaviours - the person may have eaten food even if they say they have not. Unless carer or parent can verify this, the person should be assumed to have food in their stomach.
• hypotonia (especial in infants) may cause difficulties in ability to cough and clear airways
• excessive post-operative drowsiness in some individuals.

Infant-specific issues

Hyptonia makes sucking difficult and failure to thrive is the major problem of the infant with PWS. Most infants also have a very weak cry and are very sleepy. Respiratory problems are common in infants and assistance with clearing secretions may be needed. Insufficient fluid intake, due to feeding difficulties, can occur. An infant being fed by NG tube may need close monitoring, due to risk of reflux and aspiration.

Mental health problems

Some teenagers and adults with PWS may also experience mental health problems. These can include: depression, lethargy, hallucinations and hearing voices, and acute psychotic episodes. Professional psychiatric help should be sought in these cases.

Cortisol hormone insufficiency

There has been a suggestion that some people with PWS may be at increased risk of stress hormone (cortisol) deficiency due to hypothalamic problems but this has not been found in all studies and probably occurs only rarely. If there is a clinical suspicion of cortisol deficiency during an acute illness such as an infection (e.g. low blood sugar, low and variable blood pressure), then consideration should be made to urgently measure cortisol levels and if there is concern hydrocortisone could be administered until the results are available. 

 
© PWSA UK 

 

Thank you

 

We are most grateful to the M&G Staff Charity Fund for their support for the revision and production of this document. 

 

 

For a larger downloadable pdf document,  "Prader-Willi Syndrome: Medical Alerts" written by international experts on PWS and produced by the International PWS Organisation, click here.

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