Sporadic and MEN1-related primary hyperparathyroidism: Differences in clinical expression and severity

Cristina Eller-Vainicher, Iacopo Chiodini, Claudia Battista, Raffaella Viti, Maria Lucia Mascia, Sara Massironi, Maddalena Peracchi, Leonardo D'Agruma, Salvatore Minisola, Sabrina Corbetta, David E C Cole, Anna Spada, Alfredo Scillitani

Research output: Contribution to journalArticlepeer-review

Abstract

Primary hyperparathyroidism (PHPT) is a common endocrine disease that is associated with multiple endocrine neoplasia type 1 (MEN1) in ∼2% of PHPT cases. Lack of a family history and other specific expressions may lead to underestimated MEN1 prevalence in PHPT. The aim of this study was to identify clinical or biochemical features predictive of MEN1 and to compare the severity of the disease in MEN1-related versus sporadic PHPT (sPHPT). We performed a 36-mo cross-sectional observational study in three tertiary referral centers on an outpatient basis on 469 consecutive patients with sporadic PHPT and 64 with MEN1-related PHPT. Serum calcium, phosphate, PTH, 25(OH)D3, and creatinine clearance were measured, and ultrasound examination of the urinary tract/urography was performed in all patients. In 432 patients, BMD was measured at the lumbar spine (LS) and femoral neck (FN). MEN1 patients showed lower BMD Z-scores at the LS (-1.33 ± 1.23 versus -0.74 ± 1.4, p = 0.008) and FN (-1.13 ± 0.96 versus -0.6 ± 1.07, p = 0.002) and lower phosphate (2.38 ± 0.52 versus 2.56 ± 0.45 mg/dl, p = 0.003) and PTH (113.8 ± 69.5 versus 173.7 ± 135 pg/ml, p = 0.001) levels than sPHPT patients. Considering probands only, the presence of MEN1 was more frequently associated with PTH values in the normal range (OR, 3.01; 95% CI, 1.07-8.50; p = 0.037) and younger age (OR, 1.61; 95% CI, 1.28-2.02; p = 0.0001). A combination of PTH values in the normal range plus age

Original languageEnglish
Pages (from-to)1404-1410
Number of pages7
JournalJournal of Bone and Mineral Research
Volume24
Issue number8
DOIs
Publication statusPublished - Aug 2009

Keywords

  • Familial hyperparathyroidism
  • Hypercalcemia
  • Multiple endocrine neoplasia type 1
  • Parathyroid
  • PTH

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Endocrinology, Diabetes and Metabolism

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