- Guillem Cebrian
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Prader-Willi syndrome (SPW) is a rare disease of genetic origin considered, however, the most common cause of genetic obesity. According to data extracted from the web portal of the Spanish Association SPW, this disease affects one in 15.000 newborns.
One was recently published scientific article on this disease in The Journal of Clinical Endocrinology & Metabolism in which several international researchers experts in this syndrome have participated. Among them we find Dra. Caixàs, from the Endocrinology and Nutrition Service and the Rare Diseases Area of the I3PT, to whom we want to ask some questions.
What are the main symptoms of a person with SPW?
(Assume Box).The main symptom is the presence of neonatal hypotonia, i.e. when they are born they have very weak muscles and the body does not maintain muscle tone, they do not have strength to suck and they may need to be fed by probe. As the months go by, they show a psychomotor retardation and from the age of one or two they show a great appetite and interest in food. If the environment is not controlled and they have access to food, they can develop very significant obesity. They also have a deficiency of hormones such as growth hormone, which is already started to be administered early before the year of life. They also have a deficiency of sex hormones, which will begin their administration in adolescence.
There was some controversy as to whether they also had cortisone deficiency (adrenal insufficiency) caused by a deficiency in the hormone that stimulates this gland (adrenocorticotropic hormone (ACTH)). These patients under stress (such as surgery) had sometimes been treated for fear that this adrenal insufficiency would manifest in the middle of the operation. It is for this reason that we proposed to do this multicenter study.
What is your study plan? What has been the result?
(AC)The study was proposed by experts from different countries and consisted of reviewing the clinical histories of 645 patients with PWS in order to obtain information on those who had undergone surgery and whether they needed cortisone administration or in case of not having administered it if they had shown signs of adrenal insufficiency. Also, stimulation tests were performed on 82 patients to find out if they had adrenal insufficiency in the face of a stressful stimulus. The results obtained were:
- Of the 645 reviewed clinical histories of 645 adult patients with SPW, 200 surgeries were detected, none of which required cortisone or showed symptoms of adrenal insufficiency.
- Of 82 patients in whom the stimulation test was performed to detect adrenal insufficiency, only in one did cortisone levels not return to normal.
The article states that central adrenal insufficiency in adults with SPW is shown to be rare. How will it affect patients?
(AC)From the results obtained it can be concluded that the presence of central adrenal insufficiency in adult patients with SPW is rare (1,2%). The impact when treating patients will be the recommendation not to prescribe cortisone at doses of stress in adult patients with this syndrome, despite being in a stressful situation such as surgery.
Going forward, what would be the recommendations for treating a patient with SPW?
General recommendations for treating an adult patient with SPW are:
- Low-calorie diet and exercise, and control of places where food is stored (padlocks) to prevent food theft.
- Assess the need for some psychotropic drugs to control the obsession with food
- Growth hormone treatment if deficiency is demonstrated.
- Treatment with sex hormones after puberty
- Calcium and vitamin D treatment if deficiency is shown
- Assess other psychoactive drugs if they appear to be psychiatric illnesses.
- Diabetes treatment, if present.
- Do not treat with cortisone under stress routinely, as central adrenal insufficiency is very rare.
Graduate in Information and Documentation (UB) and Master in Management and Direction of Libraries and Information Services (UB). At I3PT I am in charge of the Knowledge Management Unit and I am in charge of collecting and disseminating its scientific production. I am passionate about new technologies, data management and open science.All stories by: Guillem Cebrian
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