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My Thoughts / My Surgical Practice| Volume 224, ISSUE 3, P1017-1018, September 2022

Multiple endocrine neoplasia type 4 & primary hyperparathyroidism: What the surgeon needs to know

  • Akie Watanabe
    Affiliations
    Department of Surgery, St. Paul's Hospital, University of British Columbia, 1081 Burrard Street, Vancouver, British Columbia, V6Z 1Y6, Canada
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  • Sam M. Wiseman
    Correspondence
    Corresponding author. Department of Surgery, St. Paul's Hospital. C303-1081 Burrard Street, Vancouver, British Columbia, Canada.
    Affiliations
    Department of Surgery, St. Paul's Hospital, University of British Columbia, 1081 Burrard Street, Vancouver, British Columbia, V6Z 1Y6, Canada
    Search for articles by this author
Published:April 23, 2022DOI:https://doi.org/10.1016/j.amjsurg.2022.04.025
Multiple endocrine neoplasia type 4 & primary hyperparathyroidism: What the surgeon needs to know
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      Primary hyperparathyroidism (PHPT) is a common cause of hypercalcemia with increasing incidence and prevalence.
      • Wilhelm S.M.
      • Wang T.S.
      • Ruan D.T.
      • et al.
      The American association of endocrine surgeons guidelines for definitive management of primary hyperparathyroidism.
      JAMA Surg. 2016; 151: 959https://doi.org/10.1001/jamasurg.2016.2310
      Approximately 2–5% of PHPT cases are caused by familial multiple endocrine neoplasia (MEN) syndromes.
      • Cristina E.-V.
      • Alberto F.
      Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism.
      Best Pract Res Clin Endocrinol Metabol. 2018; 32: 861-875https://doi.org/10.1016/j.beem.2018.09.010
      MEN encompasses a group of autosomal dominant genetic disorders with a variety of clinical presentations primarily affecting endocrine organs.
      • McDonnell J.E.
      • Gild M.L.
      • Clifton‐Bligh R.J.
      • Robinson B.G.
      Multiple endocrine neoplasia: an update.
      Intern Med J. 2019; 49: 954-961https://doi.org/10.1111/imj.14394
      Familial PHPT is diagnosed in 95% of MEN1 patients (mutation in menin gene) and 20% of MEN2a patients (mutation in RET gene).
      • Medina J.E.
      • Randolph G.W.
      • Angelos P.
      • et al.
      Primary hyperparathyroidism: disease of diverse genetic, symptomatic, and biochemical phenotypes.
      Head Neck. 2021; 43: 3996-4009https://doi.org/10.1002/hed.26861
      Surgery is the mainstay for definitive treatment of PHPT,
      • Wilhelm S.M.
      • Wang T.S.
      • Ruan D.T.
      • et al.
      The American association of endocrine surgeons guidelines for definitive management of primary hyperparathyroidism.
      JAMA Surg. 2016; 151: 959https://doi.org/10.1001/jamasurg.2016.2310
      of which both syndromes have well-established guidelines.
      • Cristina E.-V.
      • Alberto F.
      Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism.
      Best Pract Res Clin Endocrinol Metabol. 2018; 32: 861-875https://doi.org/10.1016/j.beem.2018.09.010
      ,
      • McDonnell J.E.
      • Gild M.L.
      • Clifton‐Bligh R.J.
      • Robinson B.G.
      Multiple endocrine neoplasia: an update.
      Intern Med J. 2019; 49: 954-961https://doi.org/10.1111/imj.14394
      In recent years, a new MEN syndrome, MEN4, has been characterized, where >80% of patients present with PHPT.
      • Medina J.E.
      • Randolph G.W.
      • Angelos P.
      • et al.
      Primary hyperparathyroidism: disease of diverse genetic, symptomatic, and biochemical phenotypes.
      Head Neck. 2021; 43: 3996-4009https://doi.org/10.1002/hed.26861
      ,
      • Frederiksen A.
      • Rossing M.
      • Hermann P.
      • Ejersted C.
      • Thakker R.V.
      • Frost M.
      Clinical features of multiple endocrine neoplasia type 4: novel pathogenic variant and review of published cases.
      J Clin Endocrinol Metab. 2019; 104: 3637-3646https://doi.org/10.1210/jc.2019-00082
      Its overall incidence, however, is rare, and concrete management guidelines are not established. A recent case of MEN4 diagnosed in a patient with persistent PHPT following a focused parathyroidectomy at our institution has prompted a review of current literature, with the aim to increase surgeon awareness and to help guide management of this uncommon familial PHPT associated syndrome.
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      References

        • Wilhelm S.M.
        • Wang T.S.
        • Ruan D.T.
        • et al.
        The American association of endocrine surgeons guidelines for definitive management of primary hyperparathyroidism.
        JAMA Surg. 2016; 151: 959https://doi.org/10.1001/jamasurg.2016.2310
        View in Article
        • Cristina E.-V.
        • Alberto F.
        Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism.
        Best Pract Res Clin Endocrinol Metabol. 2018; 32: 861-875https://doi.org/10.1016/j.beem.2018.09.010
        View in Article
        • McDonnell J.E.
        • Gild M.L.
        • Clifton‐Bligh R.J.
        • Robinson B.G.
        Multiple endocrine neoplasia: an update.
        Intern Med J. 2019; 49: 954-961https://doi.org/10.1111/imj.14394
        View in Article
        • Medina J.E.
        • Randolph G.W.
        • Angelos P.
        • et al.
        Primary hyperparathyroidism: disease of diverse genetic, symptomatic, and biochemical phenotypes.
        Head Neck. 2021; 43: 3996-4009https://doi.org/10.1002/hed.26861
        View in Article
        • Frederiksen A.
        • Rossing M.
        • Hermann P.
        • Ejersted C.
        • Thakker R.V.
        • Frost M.
        Clinical features of multiple endocrine neoplasia type 4: novel pathogenic variant and review of published cases.
        J Clin Endocrinol Metab. 2019; 104: 3637-3646https://doi.org/10.1210/jc.2019-00082
        View in Article
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        View in Article

      Article info

      Publication history

      Published online: April 23, 2022
      Accepted: April 20, 2022
      Received in revised form: April 11, 2022
      Received: January 27, 2022

      Identification

      DOI: https://doi.org/10.1016/j.amjsurg.2022.04.025

      Copyright

      © 2022 Elsevier Inc. All rights reserved.

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