Fibrodysplasia ossificans progressiva

diagnosis, management, and therapeutic horizons.

Robert Pignolo, Eileen M. Shore, Frederick S. Kaplan

Research output: Contribution to journalReview article

65 Citations (Scopus)

Abstract

Fibrodysplasia ossificans progressiva (FOP), a rare and disabling genetic condition characterized by congenital malformations of the great toes and progressive heterotopic endochondral ossification (HEO) which is the most catastrophic of HEO disorders in humans. Flare-ups of FOP are episodic; immobility is cumulative. Heterozygous activating mutations in activin receptor IA/activin-like kinase-2 (ACVRI/ ALK2), a bone morphogenetic protein (BMP) type I receptor, exist in all sporadic and familial cases of FOP. The discovery of the FOP gene established a critical milestone in our understanding of FOP, and revealed a highly conserved therapeutic target in the BMP signaling pathway. This discovery has advanced efforts to develop novel therapies for this disabling disorder of tissue metamorphosis. While effective treatment of FOP will likely be based on interventions that modulate overactive ACVR1/ALK2 signaling, or that specifically block postnatal HEO, current management is focused on early diagnosis, assiduous avoidance of injury or iatrogenic harm, symptomatic amelioration of painful flare-ups, and optimization of residual function.

Original languageEnglish (US)
Pages (from-to)437-448
Number of pages12
JournalPediatric endocrinology reviews : PER
Volume10 Suppl 2
StatePublished - Jun 1 2013
Externally publishedYes

Fingerprint

Myositis Ossificans
Heterotopic Ossification
Osteogenesis
Type I Bone Morphogenetic Protein Receptors
Therapeutics
Activin Receptors
Hallux
Activins
Bone Morphogenetic Proteins
Early Diagnosis
Phosphotransferases
Mutation
Wounds and Injuries
Genes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism

Cite this

Fibrodysplasia ossificans progressiva : diagnosis, management, and therapeutic horizons. / Pignolo, Robert; Shore, Eileen M.; Kaplan, Frederick S.

In: Pediatric endocrinology reviews : PER, Vol. 10 Suppl 2, 01.06.2013, p. 437-448.

Research output: Contribution to journalReview article

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