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Alterations in Bone Mineral Density in Marfan Syndrome and Homocystinuria

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Abstract

Homocystinuria and Marfan syndrome represent distinct genetic conditions that share phenotypically similar skeletal features. An overview of the current understanding of genetic and physiologic contributing to the etiology of these conditions is summarized. The focus of this review is to explore the present understanding of the pathophysiology of Marfan syndrome and homocystinuria relative to the occurrence of osteoporosis in both conditions. Osteoporosis has been reported in association with homocystinuria. However, evidence supporting an association of osteoporosis with Marfan syndrome is equivocal and sources of ambiguity are critically reviewed. Advisability and approaches to bone mineral density monitoring in patients with Marfan syndrome or homocystinuria to inform clinical management are discussed. Finally, future research foci are proposed which will improve understanding of association of osteoporosis with Marfan syndrome or homocystinuria.

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Acknowledgments

The authors would like to acknowledge the assistance of the staff of the Office of Scientific Writing Publication for their assistance in the preparation of this manuscript, with special thanks to Michelle Wellsandt and Marie Fleisner for their help with formatting of the figures and tables.

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Authors and Affiliations

  1. Department of Genetic Services, Marshfield Clinic, 1000 N Oak Avenue, Marshfield, WI, 54449, USA

    Philip F. Giampietro

  2. Hospital for Special Surgery, 535 East 70th Street, New York, NY, 10021, USA

    Margaret Peterson

  3. Department of Pediatric Orthopedics, Hospital for Special Surgery, 535 East 70th Street, New York, NY, 10021, USA

    Cathy L. Raggio

Authors
  1. Philip F. Giampietro
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  2. Margaret Peterson
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  3. Cathy L. Raggio
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Correspondence to Philip F. Giampietro.

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Giampietro, P.F., Peterson, M. & Raggio, C.L. Alterations in Bone Mineral Density in Marfan Syndrome and Homocystinuria. Clinic Rev Bone Miner Metab 6, 46–52 (2008). https://doi.org/10.1007/s12018-008-9018-2

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