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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.

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|August 27, 2021
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Summary

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.

Keywords:
Prader-Willi syndromeadultshyperprolactinemiahypogonadism

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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.