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Prader Willi syndrome: what it is and how to recognize it

prader willi syndrome

Prader Willi syndrome is a rare disease that can affect both sexes and usually occurs once in 25,000. Let’s find out what the symptoms are and what it can lead to.

Prader Willi syndrome, also known as PWS , is a rare disease and is caused by a genetic abnormality that leads to a lack of active paternal genes in the arm region of chromosome 15. To date, it is recognized as a major cause of syndromic obesity and can affect both sexes, manifesting itself from birth and leading to characteristics that can vary from person to person over the years.

Prader Willi syndrome: the main symptoms

This syndrome, which seems to affect the hypothalamus in particular, can lead to various symptoms , some of which are recognizable from early childhood.

prader willi syndrome
prader willi syndrome

Among these, the most important are:

– Poor growth
– Increased appetite
– Lack of satiety
– Hypotonia
– Hormonal dysfunctions
– Dysmorphisms
– Poor sensitivity to pain
– Scoliosis and kyphosis
– Intellectual disability
– Strabismus and / or myopia
– Behavioral disorders
– Anxiety

If not taken early, it can lead to disproportionate weight gain due to resistance to diets and difficulty managing both appetite and weight loss . For this reason it is very important to recognize it in time and to take appropriate care as soon as possible. Generally, in case of suspicion, a blood sample is enough to confirm it.

Prader Willi syndrome: life expectancy and possible treatments

Those who suffer from this syndrome has to control food intake and various disorders that contribute to limit the quality of life. However, in some cases and if well treated it is a disease with which it is possible to live while carrying on a social and working life.

Among the treatments available today there is hormone therapy with which a growth hormone is administered.
Then there are other drugs currently under study but which seem to be able to greatly improve life expectancies which are usually around middle age but which have been significantly improving in recent years. In England, for example, a patient suffering from it died at the age of 71. What matters, from this point of view, is to take care, first of all, of nutrition and maintenance of a weight that does not become dangerous for health.

It is good to remember that there is a Prader Willi association from which it is possible to obtain information and that, in Italy, there are several centers that deal with it, taking care of those who suffer from it and thus helping in the management of the disease and its symptoms.

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