TITLE

Early Mortality and Cardiorespiratory Failure in Patients with Fibrodysplasia Ossificans Progressiva

AUTHOR(S)
Kaplan, Frederick S.; Zasloff, Michael A.; Kitterman, Joseph A.; Shore, Eileen M.; Hong, Charles C.; Rocke, David M.
PUB. DATE
March 2010
SOURCE
Journal of Bone & Joint Surgery, American Volume;Mar2010, Vol. 92-A Issue 3, p686
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
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.
ACCESSION #
48681471

 

Related Articles

  • Developmental biology: Blood-vessel cells turn to bone.  // Nature;11/25/2010, Vol. 468 Issue 7323, p479 

    The article focuses on research regarding the mutation in the Alk2 gene of patients with fibrodysplasia ossificans progressiva (FOP), which results to the formation of bone in soft tissues and the endothelial cells.

  • Building bone from blood vessels. Horwitz, Edwin M. // Nature Medicine;Dec2010, Vol. 16 Issue 12, p1373 

    In this article the author discusses the study conducted by D. Medici and colleagues concerning the mesenchymal stem cells (MSCs) source on people with fibrodysplasia ossificans progressiva (FOP). He says that the study provided cues that could be used in cell therapy for treating people who...

  • Functional Modeling of the ACVR1 (R206H) Mutation in FOP. Jay Groppe // Clinical Orthopaedics & Related Research;Sep2007, Vol. 462 Issue 1, p87 

    Individuals with fibrodysplasia ossificans progressiva are born with malformations of the great toes and develop a heterotopic skeleton during childhood because of an identical heterozygous mutation in the glycine-serine activation domain of ACVR1, a bone morphogenetic protein type I receptor....

  • Proximal Tibial Osteochondromas in Patients with Fibrodysplasia Ossificans Progressiva. Deirmengian, Gregory K.; Hebela, Nader M.; O'Connell, Michael; Glaser, David L.; Shore, Eileen M.; Kaplan, Frederick S. // Journal of Bone & Joint Surgery, American Volume;Feb2008, Vol. 90-A Issue 2, p366 

    Background: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of skeletal muscle and soft connective tissues. The disorder is caused by a recurrent missense mutation...

  • Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review. LAKKIREDDY, MAHESHWAR; CHILAKAMARRI, VIJAYKRISHNA; RANGANATH, PRAJNYA; ARORA, ABHISHEK JAGDISHCHANDER; VANAJA, MARIA CELESTINA // Journal of Clinical & Diagnostic Research;Aug2015, Vol. 9 Issue 8, p1 

    Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by congenital malformation of the great toes and disabling heterotopic ossification in specific anatomic locations with a world wide prevalence of 1 in 2 million population. Nearly 90% of patients with FOP are...

  • Identification of Progenitor Cells That Contribute to Heterotopic Skeletogenesis. Lounev, Vitali Y.; Ramachandran, Rageshree; Wosczyna, Michael N.; Yamamoto, Masakazu; Maidment, Andrew D. A.; Shore, Eileen M.; Glaser, David L.; Goldhamer, David J.; Kaplan, Frederick S. // Journal of Bone & Joint Surgery, American Volume;Mar2009, Vol. 91-A Issue 3, p652 

    Background: Individuals who have fibrodysplasia ossificans progressiva develop an ectopic skeleton because of genetic dysregulation of bone morphogenetic protein (BMP) signaling in the presence of inflammatory triggers. The identity of progenitor cells that contribute to various stages of...

  • THE MYSTERY OF THE SECOND SKELETON. ZIMMER, CARL // Atlantic;Jun2013, Vol. 311 Issue 5, p72 

    The article discusses genetic research on fibrodysplasia ossificans progressiva (FOP), and describes the contributions of the research to more common bone diseases such as osteoporosis. FOP patient Jeannie Peeper's founding of FOP societies and efforts to seek FOP research funding are discussed,...

  • Fibrodysplasia ossificans progressiva: a case report. Önal, Merih; Bajin, M. Demir; Yılmaz, Taner // Turkish Journal of Pediatrics;Sep/Oct2014, Vol. 56 Issue 5, p561 

    Fibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling, autosomal dominant disease characterized by recurrent painful episodes of soft tissue swelling and the development of heterotopic ossification. The main target is the axial musculature, but eventually ectopic bone...

  • Air Pollution and Retained Particles in the Lung. Brauer, Michael; vila-Casado, Carmen A; Fortoul, Teresa I. // Environmental Health Perspectives;Oct2001, Vol. 109 Issue 10, p1039 

    Epidemiologic evidence associates particulate air pollution with cardiopulmonary morbidity and mortality. The biological mechanisms underlying these associations and the relationship between ambient levels and retained particles in the lung remain uncertain. We examined the parenchymal particle...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics