Current Osteoporosis Reports

, Volume 15, Issue 4, pp 255–270 | Cite as

Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts

  • Yvonne Nitschke
  • Frank RutschEmail author
Pediatrics (L Ward and E Imel, Section Editors)
Part of the following topical collections:
  1. Topical Collection on Pediatrics


Purpose of Review

We give an update on the etiology and potential treatment options of rare inherited monogenic disorders associated with arterial calcification and calcific cardiac valve disease.

Recent Findings

Genetic studies of rare inherited syndromes have identified key regulators of ectopic calcification. Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and Gaucher disease type IIIC.


Although some of the identified causative mechanisms are not easy to target for treatment, it has become clear that a disturbed serum phosphate/pyrophosphate ratio is a major force triggering arterial and cardiac valve calcification. Further studies will focus on targeting the phosphate/pyrophosphate ratio to effectively prevent and treat these calcific disease phenotypes.


ENPP1 ABCC6 GACI PXE Arterial calcification Phosphate Pyrophosphate 



F.R. and Y.N. were supported by a grant by the Deutsche Forschungsgemeinschaft. Both individuals listed as authors have contributed substantially to the design and writing of this review.

Compliance with Ethical Standards

Conflict of Interest

Yvonne Nitschke and Frank Rutsch declare no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  1. 1.Department of General PediatricsMünster University Children’s HospitalMünsterGermany

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