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Predictors of low bone density and fracture risk in Loeys-Dietz syndrome

  1. Author:
    Guerrerio, Anthony L
    Mateja,Allyson
    Rasooly, Marjohn
    Levin, Samara
    Magnani, Alaina
    Dempsey, Caeden
    MacCarrick, Gretchen
    Dietz, Harry C
    Brittain, Erica
    Boyce, Alison M
    Frischmeyer-Guerrerio, Pamela A

  2. Author Address

    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD., Clinical Monitoring Research Program Directorate, Frederick National Laboratory, Leidos Biomedical Research, Inc, Frederick, MD., The Laboratory of Allergic Diseases, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD., McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD; Howard Hughes Medical Institute, Chevy Chase, MD., Biostatistics Research Branch (BRB), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Metabolic Bone Disorders Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD. Electronic address: alison.boyce@nih.gov., The Laboratory of Allergic Diseases, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD. Electronic address: pamela.guerrerio@nih.gov.,
    1. Year: 2021
    2. Date: Nov 16
  2. Journal: Genetics in Medicine : Official Journal of the American College of Medical Genetics
  4. Type of Article: Article
  1. Abstract:

    Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting multiple organ systems, including bone. We defined the bone phenotype and clinical predictors of low bone density and fracture risk in 77 patients with LDS type 1 to type 5. Patients with LDS had dual-energy x-ray absorptiometry (DXA) Z-scores significantly < 0, and 50% of children and 9% of adults had Z-scores < -2. Sixty percent of patients had =1 fracture, and 24% of patients with spinal x-rays scans showed spinal compression fractures. Lower body mass index, asthma, male sex and eosinophilic gastrointestinal disease were correlated with lower DXA Z-scores. The count of 5 LDS-associated skeletal features (scoliosis, pes planus, arachnodactyly, spondylolisthesis, and camptodactyly) in patients with LDS was correlated with DXA Z-score. Adults with =1 skeletal features had DXA Z-scores significantly < 0, and children with >2 features had DXA Z-score significantly < -2. Bone turnover markers suggest accelerated bone resorption. Data from 5 patients treated with bisphosphonates suggest a beneficial effect. All LDS types are associated with reduced bone density and increased risk of fracture, which may be due to increased bone resorption. Clinical features can predict a subgroup of patients at highest risk of low bone density and fracture risk. Copyright © 2021. Published by Elsevier Inc.

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External Sources

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  2. DOI: 10.1016/j.gim.2021.10.002
  3. PMID: 34906513
  4. PII : S1098-3600(21)05352-1

Library Notes

  1. Fiscal Year: FY2021-2022
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