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Scientific Articles   |    
Early Mortality and Cardiorespiratory Failure in Patients with Fibrodysplasia Ossificans Progressiva
Frederick S. Kaplan, MD1; Michael A. Zasloff, MD, PhD2; Joseph A. Kitterman, MD3; Eileen M. Shore, PhD4; Charles C. Hong, MD, PhD5; David M. Rocke, PhD6
1 Department of Orthopaedic Surgery, Hospital of the University of Pennsylvania, Silverstein-2, 3400 Spruce Street, Philadelphia, PA 19104. E-mail address for F.S. Kaplan: Frederick.Kaplan@uphs.upenn.edu
2 Department of Translational Sciences, Georgetown University Medical Center, Washington, DC 20057
3 Department of Pediatrics and Cardiovascular Research Institute, U-503; Box-0734, the University of California at San Francisco, San Francisco, CA 94143-0734
4 Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, 424 Stemmler Hall, 36th and Hamilton Walk, Philadelphia, PA 19104
5 Departments of Medicine and Pharmacology and Center for Inherited Heart Disease, Vanderbilt University School of Medicine, 2220 Pierce Avenue, 383 Preston Research Building, Nashville, TN 37232
6 Department of Public Health Sciences, University of California at Davis, One Shields Avenue, Davis, CA 95616
View Disclosures and Other Information
Disclosure: In support of their research for or preparation of this work, one or more of the authors received, in any one year, outside funding or grants in excess of $10,000 from the Center for Research in Fibrodysplasia Ossificans Progressiva and Related Disorders, the Ian Cali Endowment, the Weldon Family Endowment, the Isaac and Rose Nassau Professorship of Orthopaedic Molecular Medicine, the International Fibrodysplasia Ossificans Progressiva Association, the Rita Allen Foundation, and the National Institutes of Health (R01-AR40196 and R01-HG003352). Neither they nor a member of their immediate families received payments or other benefits or a commitment or agreement to provide such benefits from a commercial entity.

Investigation performed at the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania

Copyright ©2010 American Society for Journal of Bone and Joint Surgery, Inc.
J Bone Joint Surg Am, 2010 Mar 01;92(3):686-691. doi: 10.2106/JBJS.I.00705
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Abstract

Background: 

Fibrodysplasia ossificans progressiva, a rare genetic disorder of progressive extraskeletal ossification, is the most disabling form of heterotopic ossification in humans. However, little is known about the lifespan or causes of mortality in these patients. We undertook this study to determine the lifespan and causes of mortality in individuals who had fibrodysplasia ossificans progressiva.

Methods: 

We reviewed comprehensive mortality reports from two large registries of patients with fibrodysplasia ossificans progressiva. Together, these registries comprise >90% of all known patients with this condition in the world. We noted the sex, dates of birth and death, and the cause of death for each individual. We verified the cause of death with extensive medical records, when available. We also collected date of birth, current age, and sex information for each living patient member of the International Fibrodysplasia Ossificans Progressiva Association.

Results: 

Sixty deaths (thirty male and thirty female patients) were reported in the fibrodysplasia ossificans progressiva community during a thirty-three-year-period. For all sixty patients, the median age at the time of death was forty years (range, three to seventy-seven years). Data were sufficient to establish the cause of death in forty-eight (80%) of the sixty individuals. The median age at the time of death for the forty-eight patients (twenty-four male and twenty-four female patients) with an established cause of death was also forty years. The median lifespan estimated from the 371 individuals in the international fibrodysplasia ossificans progressiva community who were alive and the sixty who had died was fifty-six years (95% confidence interval, fifty-one to sixty years). The most common causes of death in patients with fibrodysplasia ossificans progressiva were cardiorespiratory failure from thoracic insufficiency syndrome (54%; median age, forty-two years) and pneumonia (15%; median age, forty years).

Conclusions: 

Fibrodysplasia ossificans progressiva is not only an extremely disabling disease but also a condition of considerably shortened lifespan. The most common cause of death in patients with fibrodysplasia ossificans progressiva is cardiorespiratory failure from thoracic insufficiency syndrome.

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    These activities have been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the American Academy of Orthopaedic Surgeons and The Journal of Bone and Joint Surgery, Inc. The American Academy of Orthopaedic Surgeons is accredited by the ACCME to provide continuing medical education for physicians.
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