Early mortality and cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva

Frederick S. Kaplan, Michael A. Zasloff, Joseph A. Kitterman, Eileen M. Shore, Charles C. Hong, David M Rocke

Research output: Contribution to journalArticle

64 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)686-691
Number of pages6
JournalJournal of Bone and Joint Surgery - Series A
Volume92
Issue number3
DOIs
StatePublished - Mar 1 2010

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Myositis Ossificans
Mortality
Cause of Death
Registries
Thorax
Parturition
Heterotopic Ossification
Inborn Genetic Diseases
Osteogenesis
Medical Records
Pneumonia
Confidence Intervals

ASJC Scopus subject areas

  • Surgery
  • Orthopedics and Sports Medicine
  • Medicine(all)

Cite this

Early mortality and cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva. / Kaplan, Frederick S.; Zasloff, Michael A.; Kitterman, Joseph A.; Shore, Eileen M.; Hong, Charles C.; Rocke, David M.

In: Journal of Bone and Joint Surgery - Series A, Vol. 92, No. 3, 01.03.2010, p. 686-691.

Research output: Contribution to journalArticle

Kaplan, Frederick S. ; Zasloff, Michael A. ; Kitterman, Joseph A. ; Shore, Eileen M. ; Hong, Charles C. ; Rocke, David M. / Early mortality and cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva. In: Journal of Bone and Joint Surgery - Series A. 2010 ; Vol. 92, No. 3. pp. 686-691.
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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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T1 - Early mortality and cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva

AU - Kaplan, Frederick S.

AU - Zasloff, Michael A.

AU - Kitterman, Joseph A.

AU - Shore, Eileen M.

AU - Hong, Charles C.

AU - Rocke, David M

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N2 - 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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