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Osteoporosis International
Published in: Osteoporosis International 9/2018

01-09-2018 | Review

Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature

Authors: M. Chakhtoura, M.S. Ramnitz, N. Khoury, G. Nemer, N. Shabb, A. Abchee, A. Berberi, M. Hourani, M. Collins, S. Ichikawa, G. El Hajj Fuleihan

Published in: Osteoporosis International | Issue 9/2018

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Abstract

Hyperphosphatemic familial tumoral calcinosis (HFTC), secondary to fibroblast growth factor 23 (FGF23) gene mutation, is a rare genetic disorder characterized by recurrent calcified masses. We describe young Lebanese cousins presenting with HFTC, based on a retrospective chart review and a prospective case study. In addition, we present a comprehensive review on the topic, based on a literature search conducted in PubMed and Google Scholar, in 2014 and updated in December 2017. While the patients had the same previously reported FGF23 gene mutation (homozygous c.G367T variant in exon 3 leading to a missense mutation), they presented with variable severity and age of disease onset (at 4 years in patient 1 and at 23 years in patient 2). A review of the literature revealed several potential patho-physiologic pathways of HFTC clinical manifestations, some of which may be independent of hyperphosphatemia. Most available treatment options aim at reducing serum phosphate level, by stimulating renal excretion or by inhibiting intestinal absorption. HFTC is a challenging disease. While the available medical treatment has a limited and inconsistent effect on disease symptomatology, surgical resection of calcified masses remains the last resort. Research is needed to determine the safety and efficacy of FGF23 replacement or molecular therapy, targeting the specific genetic aberration. Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder characterized by recurrent calcified masses, in addition to other visceral, skeletal, and vascular manifestations. It remains a very challenging disease.
Appendix
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Footnotes
1
25(OH)D: 25-hydroxyvitamin D; 1;25(OH)2D: 1,25-dihydroxyviatmin D; AUB-MC: American University of Beirut–Medical Center; BMD: bone mineral density; CFGF23: C-terminal FGF23; CV: coefficient of variation; DXA: dual X-ray absorptiometry; FGF23: fibroblast growth factor 23; GFR: glomerular filtration rate; HFTC: hyperphosphatemic familial tumoral calcinosis; IL-1: interleukin–1; iFGF23: intact FGF23; NaPi2: type II sodium-dependent phosphate co-transporters; MMP: metalloproteinases; ppGalNacT3: polypeptide N-acetyl-galactosaminyl-transferase 3; RIA: radio-immunoassay; SD: standard deviation; TRP: tubular reabsorption of phosphate; TmP: tubular maximum reabsorption of phosphate; TRPV5: transient receptor potential vanilloid type 5 channel
 
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Metadata
Title
Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature
Authors
M. Chakhtoura
M.S. Ramnitz
N. Khoury
G. Nemer
N. Shabb
A. Abchee
A. Berberi
M. Hourani
M. Collins
S. Ichikawa
G. El Hajj Fuleihan
Publication date
01-09-2018
Publisher
Springer London
Published in
Osteoporosis International / Issue 9/2018
Print ISSN: 0937-941X
Electronic ISSN: 1433-2965
DOI
https://doi.org/10.1007/s00198-018-4574-x

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