New perspectives on rare connective tissue calcifying diseases

Curr Opin Pharmacol. 2016 Jun;28:14-23. doi: 10.1016/j.coph.2016.02.002. Epub 2016 Feb 27.


Connective tissue calcifying diseases (CTCs) are characterized by abnormal calcium deposition in connective tissues. CTCs are caused by multiple factors including chronic diseases (Type II diabetes mellitus, chronic kidney disease), the use of pharmaceuticals (e.g. warfarin, glucocorticoids) and inherited rare genetic diseases such as pseudoxanthoma elasticum (PXE), generalized arterial calcification in infancy (GACI) and Keutel syndrome (KTLS). This review explores our current knowledge of these rare inherited CTCs, and highlights the most promising avenues for pharmaceutical intervention. Advancing our understanding of rare inherited forms of CTC is not only essential for the development of therapeutic strategies for patients suffering from these diseases, but also fundamental to delineating the mechanisms underpinning acquired chronic forms of CTC.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Calcinosis / drug therapy
  • Calcinosis / etiology
  • Calcinosis / physiopathology*
  • Calcium / metabolism*
  • Chronic Disease
  • Connective Tissue / pathology
  • Connective Tissue Diseases / drug therapy
  • Connective Tissue Diseases / etiology
  • Connective Tissue Diseases / physiopathology*
  • Drug Design
  • Humans


  • Calcium