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Hyperprolactinemia in Adults with Prader-Willi Syndrome
Anna Sjöström1,2, Karlijn Pellikaan3,4,5,6, Henrik Sjöström7,8
1Department of Clinical Chemistry, Karolinska University Hospital, 171 76 Stockholm, Sweden.
Insights
Hyperprolactinemia is common in Prader-Willi syndrome (PWS), often linked to antipsychotic use. Severe cases are rare, but monitoring prolactin levels is recommended for PWS patients, especially those on antipsychotics.
Area of Science:
- Endocrinology
- Genetics
- Neuroscience
Background:
- Prader-Willi syndrome (PWS) is a rare genetic disorder with diverse symptoms, including neurodevelopmental and endocrine issues.
- Hyperprolactinemia, elevated prolactin levels, is a known side effect of antipsychotic medications, frequently used in PWS patients with psychotic illness.
- Limited data exists on hyperprolactinemia prevalence and consequences in adults with PWS.
Purpose of the Study:
- To investigate the prevalence and potential causes of hyperprolactinemia in adults with PWS.
- To explore the clinical characteristics and potential consequences of hyperprolactinemia in this population.
- To provide recommendations for monitoring and management of hyperprolactinemia in PWS.
Main Methods:
- An international, observational study involving 45 adults with PWS and hyperprolactinemia.
- Data collection included prolactin levels, medication history (especially antipsychotics), clinical characteristics, and endocrine function tests.
- Prevalence was estimated from available data in participating centers.
Main Results:
- Hyperprolactinemia was estimated in 22% of a PWS subset, with medication (66%) and antipsychotics (55%) as primary causes.
- Prolactin levels were higher in women and those with maternal uniparental disomy (mUPD).
- Severe hyperprolactinemia was rare (3 patients); no significant clinical consequences were definitively determined, though potential long-term effects are noted.
Conclusions:
- Antipsychotic medication is the most common cause of hyperprolactinemia in adults with PWS.
- While severe hyperprolactinemia is uncommon, monitoring prolactin levels is advisable for PWS patients.
- Regular prolactin monitoring is particularly important for PWS individuals treated with antipsychotic medications to mitigate potential risks.
Abstract:
Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder typically characterized by body composition abnormalities, hyperphagia, behavioural challenges, cognitive dysfunction, and hypogonadism. Psychotic illness is common, particularly in patients with maternal uniparental disomy (mUPD), and antipsychotic medications can result in hyperprolactinemia. Information about hyperprolactinemia and its potential clinical consequences in PWS is sparse. Here, we present data from an international, observational study of 45 adults with PWS and hyperprolactinemia. Estimated prevalence of hyperprolactinemia in a subset of centres with available data was 22%, with 66% of those related to medication and 55% due to antipsychotics. Thirty-three patients were men, 12 women. Median age was 29 years, median BMI 29.8 kg/m2, 13 had mUPD. Median prolactin was 680 mIU/L (range 329-5702). Prolactin levels were higher in women and patients with mUPD, with only 3 patients having severe hyperprolactinemia. Thyroid function tests were normal, 24 were treated with growth hormone, 29 with sex steroids, and 20 with antipsychotic medications. One patient had kidney insufficiency, and one a microprolactinoma. In conclusion, severe hyperprolactinemia was rare, and the most common aetiology of hyperprolactinemia was treatment with antipsychotic medications. Although significant clinical consequences could not be determined, potential negative long-term effects of moderate or severe hyperprolactinemia cannot be excluded. Our results suggest including measurements of prolactin in the follow-up of adults with PWS, especially in those on treatment with antipsychotics.
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