Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.

Abstract

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.

• Authors: Yvonne Nitschke, Frank Rutsch
• Journal: Current osteoporosis reports (Curr Osteoporos Rep) Vol. 15 Issue 4 Pg. 255-270 (08 2017) ISSN: 1544-2241 [Electronic] United States
• PMID: 28585220 (Publication Type: Journal Article, Review, Research Support, Non-U.S. Gov't)

Chemical References

• Diphosphates
• Phosphates
• Interferons

Topics

• Abnormalities, Multiple (drug therapy, genetics, metabolism)
• Aortic Diseases (drug therapy, genetics, metabolism)
• Basal Ganglia Diseases (drug therapy, genetics, metabolism)
• Calcinosis (drug therapy, genetics, metabolism)
• Cartilage Diseases (drug therapy, genetics, metabolism)
• Dental Enamel Hypoplasia (drug therapy, genetics, metabolism)
• Diphosphates (metabolism)
• Enzyme Replacement Therapy
• Gaucher Disease (drug therapy, genetics, metabolism)
• Hand Deformities, Congenital (drug therapy, genetics, metabolism)
• Humans
• Hyperostosis, Cortical, Congenital (drug therapy, genetics, metabolism)
• Hyperphosphatemia (drug therapy, genetics, metabolism)
• Interferons (metabolism)
• Metacarpus (abnormalities, metabolism)
• Muscular Diseases (drug therapy, genetics, metabolism)
• Odontodysplasia (drug therapy, genetics, metabolism)
• Osteoporosis (drug therapy, genetics, metabolism)
• Phosphates (metabolism)
• Progeria (drug therapy, genetics, metabolism)
• Pseudoxanthoma Elasticum (drug therapy, genetics, metabolism)
• Pulmonary Valve Stenosis (drug therapy, genetics, metabolism)
• Vascular Calcification (drug therapy, genetics, metabolism)