Thursday, May 19

What is Prader-Willi syndrome?

What is Prader-Willi syndrome?

What is Prader-Willi syndrome?

Prader-Willi syndrome is a rare genetic disorder. It causes decreased muscle strength, low levels of growth hormone and sex hormones.

But also, produces a continuous feeling of hunger, which usually appears after 2 years of age. The prevalence of this syndrome is 1 case per 15,000 live births.

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As the doctor warns Assumpta Caixàs, endocrinologist at the Parc Taulí Health Corporation and member of the Obesity group of the SEEN and coordinator of the Prader-Willi Syndrome working group of the SEEDO, there is still a lot of awareness to address this syndrome.

“However, when they become adults and need to make the move to the adult team, we find that there is no knowledge or availability on the part of many Endocrinology and Nutrition services, and sometimes they are followed only by the family doctor, internists or psychiatrists if their predominant disorder is bad behavior “, explains the expert.

Signs of Prader-Willi syndrome

Within the need to address this pathology early, it is essential to know and recognize the signs and symptoms of Prader-Willi.

The signs and symptoms that may be present from birth are:

As the patient diagnosed with the Prader-Willi syndrome grows, other new signs appear and some remain:

This wide range of symptoms requires that the approach to these patients must therefore be multidisciplinary and by an expert team. The specialties that this team should cover are: Genetics, both clinical and laboratory; Pediatrics, Neuropediatrics, Endocrinology and Nutrition, Psychiatry and Psychology, Pulmonology, Gynecology, Urology, Traumatology, Ophthalmology and Dentistry.

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Obesity, a common denominator in patients with Prader-Willi syndrome

The part of the brain that controls satiety or hunger does not work as it should in people with this syndrome.

They binge eat and obesity is present in almost 100% of these patients and, in addition, the type of obesity in 80% is severe, that is, grade II with associated comorbidities or grade III.

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Dr. Caixàs explains that by Body Mass Index it would be indicated bariatric surgery, but it is not advised since the problem of these patients is in their brain And despite putting a barrier in the stomach, the brain still craves food and it can be dangerous if they binge after surgery on the stomach.

Although the life expectancy of these patients is increasing, being currently 55-60 years common, the main causes of death are respiratory, infection and respiratory failure or pulmonary thromboembolism, or asphyxia due to excessive food intake.

We are also beginning to see some deaths from cancer associated with obesity.

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