Symmetrical craniofacial hypertrophy in patients with tertiary hyperparathyroidism and high-dose cinacalcet exposure

Mehrdad Hamrahian, Karen T. Pitman, Éva Csongrádi, Justin H. Bain, Béla Kanyicska, Tibor Fülöp

Research output: Contribution to journalArticlepeer-review

Abstract

We are reporting on a series of two patients with end-stage renal disease on hemodialysis, presented for surgical parathyroidectomy secondary refractory hyperparathyroidism. Both patients had failed maximized medical managements, including higher-than-usual doses of the calcimimetic cinacalcet (270 and 180mg/day, respectively). On physical exam, both patients had marked symmetrical craniofacial hypertrophy with coarse distortion of facial features, similar in appearance to past reports of Sagliker syndrome. On X-ray and computed tomographic exam, they had peculiar areas of bone absorption on the skull, imitating the radiologic appearance of multiple myeloma. Bone biopsy of the maxilla, however, did not show the expected brown tumor, but rather described only fibrosis and reactive bone formations. This phenotype developed while being on cinacalcet, progressed despite escalation of therapy, and improved only after parathyroidectomy. Both patients developed massive "hungry bone syndrome" after parathyroidectomy necessitating prolonged IV calcium infusion. This pattern of severe facial distortion likely represented an adverse consequence of severe tertiary hyperparathyroidism, along with supraphysiologic dose of cinacalcet administration and 25-hydroxy vitamin D deficiency in sensitive individuals. The genetic base of this observation remained unexplained.

Original languageEnglish (US)
Pages (from-to)571-576
Number of pages6
JournalHemodialysis International
Volume16
Issue number4
DOIs
StatePublished - Oct 2012
Externally publishedYes

Keywords

  • Cinacalcet
  • Maxillary hypertrophy
  • Sagliker syndrome
  • Tertiary hyperparathyroidism
  • Vitamin D deficiency
  • osteitis deformans

ASJC Scopus subject areas

  • Hematology
  • Nephrology

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