Prader–Willi syndrome (PWS)

What is it?

Prader-Willi syndrome (PWS) is a congenital multisystem disease with significant clinical variability. It is the most common cause of syndromic obesity, with a complex genetic basis. Clinical manifestations depend on the lack of expression of paternal genes, usually active, present in the region 11-13 of the long arm of chromosome 15 (15 q11-13).

Which are the symptoms?

The clinical picture of a patient with PWS changes over the course of the person's life; already in the fetal period a reduction in fetal movements can occur, secondary to a muscular hypotonia that will characterize the neonatal period and early childhood, determining, among others, a difficulty in sucking with initial poor growth and the delayed acquisition of the main stages of psychomotor development. Usually between the second and fourth year of life there is, alongside the improvement of hypotonia, the appearance of worsening hyperphagia, secondary to an absent sense of satiety, which leads to a rapid weight gain. In a few years, in the absence of adequate treatment, a high degree of obesity is established. In later ages, the most serious complications of excess weight occur, mainly of a cardiorespiratory, metabolic and osteoarticular nature, including obstructive sleep apneas, aggravated by the concomitant presence of central apneas, and type 2 diabetes mellitus.

How is it diagnosed?

Suggested exams

How is it treated?

There is no definitive therapy. In consideration of the different problems of patients with Prader-Willi syndrome, a multidisciplinary care and therapeutic program must be implemented from the neonatal period, which is able to involve the various professionals and specialists of the numerous medical branches concerned. GH treatment is now recognized as the cornerstone of the therapeutic approach; it is able to improve muscle tone, increase growth rate, decrease weight / height ratio and fat mass and improve patients' respiratory function.

Where do we treat it?

Within the San Donato Group, you can find Prader–Willi syndrome (PWS) specialists at these departments:

Are you interested in receiving the treatment?

Contact us and we will take care of you.