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A patient with MEN1-associated hyperparathyroidism, responsive to cinacalcet

Nature Clinical Practice Endocrinology & Metabolism volume 4, pages 351–357 (2008)Cite this article

A Corrigendum to this article was published on 01 July 2008

Abstract

Background A 30-year-old woman with suspected multiple endocrine neoplasia type 1 (MEN1) was referred to our center in 2001 with primary hyperparathyroidism caused by a multiglandular parathyroid adenoma. The patient also had hyperprolactinemia caused by an anterior pituitary macroadenoma. The patient underwent a parathyroidectomy with autotransplantation of parathyroid fragments into the nondominant forearm, resulting in resolution of the primary hyperparathyroidism. MEN1 was confirmed by analysis of the MEN1 gene, which revealed a 1555insG frameshift mutation. In 2006 serum calcium and parathyroid hormone (PTH) levels were again found to be high.

Investigations After parathyroidectomy in 2001, the patient underwent regular measurements of PTH levels from both forearms, of serum calcium, prolactin and phosphate levels, and of urinary calcium and phosphate levels. When serum calcium and PTH levels were found to be elevated in 2006, circulating PTH levels were similar in both forearms. Ultrasound scan and technetium-99m-labeled hexakis-2-methoxyisobutylisonitrile (99mTc MIBI) scintigraphy evidenced a metabolically active parathyroid nodule in the neck.

Diagnosis Local recurrence of a parathyroid adenoma associated with MEN1.

Management Because the patient refused a further operation, we decided to initiate pharmacological treatment with cinacalcet. After 1 month of therapy, serum calcium and PTH levels returned to normal. The patient has now been closely monitored for 1 year. During this time calcium and PTH levels remained normal, morphologically the parathyroid nodular lesion remained unchanged and cinacalcet was well tolerated without the occurrence of adverse events. Cinacalcet could represent an important pharmacological intervention in MEN1-associated primary hyperparathyroidism before surgery and in postsurgical recurrences.

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Figure 1: The patient's neck ultrasound and technetium-99m-labeled hexakis-2-methoxyisobutylisonitrile (99mTc MIBI) parathyroid scintigaphy.

References

  1. Morelli A et al. (2000) MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1. Eur J Endocrinol 142: 131–137

    Article  CAS  Google Scholar 

  2. Tonelli F et al. (2007) Is total parathyroidectomy the treatment of choice for hyperparathyroidism in Multiple Endocrine Neoplasia Type 1. Ann Surg 246: 1075–1082

    Article  Google Scholar 

  3. Allo M and Thompson NW (1982) Familial hyperparathyroidism caused by solitary adenomas. World J Surg 92: 486–490

    CAS  Google Scholar 

  4. Kollars J et al. (2005) Primary hyperparathyroidism in pediatric patients. Pediatrics 115: 974–980

    Article  Google Scholar 

  5. Brandi ML et al. (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86: 5658–5671

    Article  CAS  Google Scholar 

  6. Falchetti A et al. (online 31 August 2005) Multiple Endocrine Neoplasia Type 1. [http://www.genetests.org/servlet/access?db=geneclinics&site=gt&id= 8888891&key=OGoY5yiCujWmU&gry=&fcn=y&fw=OAYb&filename=/profiles/ men1/index.html] (accessed 5/3/08)

  7. Elaraj DM et al. (2003) Results of initial operation for hyperparathyroidism in patients with multiple endocrine neoplasia type 1. Surgery 134: 858–864

    Article  Google Scholar 

  8. Carling T and Udelsman R (2005) Parathyroid surgery in familial hyperparathyroid disorders. J Intern Med 257: 27–37

    Article  CAS  Google Scholar 

  9. Nemeth EF et al. (1998) Calcimimetics with potent and selective activity on the parathyroid calcium receptor. Proc Natl Acad Sci USA 95: 4040–4045

    Article  CAS  Google Scholar 

  10. Barman Balfour JA and Scott LJ (2005) Cinacalcet hydrochloride. Drugs 65: 271–281

    Article  Google Scholar 

  11. Joy MS et al. (2004) Calcimimetics and the treatment of primary and secondary hyperparathyroidism. Ann Pharmacother 38: 1871–1880

    Article  CAS  Google Scholar 

  12. Peacock M et al. (2005) Cinacalcet hydrochloride maintains long-term normocalcemia in patients with primary hyperparathyroidism. J Clin Endocrinol Metab 90: 135–141

    Article  CAS  Google Scholar 

  13. Shoback DM et al. (2003) The calcimimetic cinacalcet normalizes serum calcium in subjects with primary hyperparathyroidism. J Clin Endocrinol Metab 88: 5644–5649

    Article  CAS  Google Scholar 

  14. Meko JB and Norton JA (1995) Management of patients with Zollinger–Ellison syndrome. Ann Rev Med 46: 395–411

    Article  CAS  Google Scholar 

  15. Brown EM et al. (1993) Cloning and characterization of an extracellular Ca2-sensing receptor from bovine parathyroid. Nature 366: 575–580

    Article  CAS  Google Scholar 

  16. Ray JM et al. (1997) Expression of the calcium-sensing receptor on human antral gastrin cells in culture. J Clin Invest 99: 2328–2333

    Article  CAS  Google Scholar 

  17. Darè E et al. (1998) Characterization of the phosphatidylinositol-specific phospholipase C isozymes present in the bovine parathyroid and in human kidney HEK293 cells stably transfected with the human parathyroid Ca2+-sensing receptor. J Mol Endocrinol 21: 7–17

    Article  Google Scholar 

  18. Burgess JR et al. (1999) Osteoporosis in multiple endocrine neoplasia type 1: severity, clinical significance, relationship to primary hyperparathyroidism, and response to parathyroidectomy. Arch Surg 134: 1119–1123

    Article  CAS  Google Scholar 

  19. Lairmore TC et al. (2004) Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1). Ann Surg 239: 637–645

    Article  Google Scholar 

Download references

Acknowledgements

ML Brandi has been supported by the Fondazione Cassa di Risparmio di Firenze for this work. The Regional Center for Hereditary Endocrine Tumors, directed by ML Brandi, is supported by the Tuscany Region.

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Authors and Affiliations

  1. A Falchetti is a Clinical Endocrinologist and a Medical Geneticist, L Vagelli is a Nuclear Physician, A Cilotti, L Masi, A Amedei and F Cioppi are Clinical Endocrinologists, F Tonelli is a Full Professor of Surgery and ML Brandi is a Full Professor of Endocrinology, all at the University Hospital of Careggi, Florence, Italy.,

    Alberto Falchetti, Antonio Cilotti, Luca Vagelli, Laura Masi, Antonietta Amedei, Federica Cioppi, Francesco Tonelli & Maria Luisa Brandi

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  1. Alberto Falchetti
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Correspondence to Maria Luisa Brandi.

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Falchetti, A., Cilotti, A., Vagelli, L. et al. A patient with MEN1-associated hyperparathyroidism, responsive to cinacalcet. Nat Rev Endocrinol 4, 351–357 (2008). https://doi.org/10.1038/ncpendmet0816

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