Fibrodysplasia ossificans progressiva: a comprehensive review

Authors

  • Tamilselvan S. JKKMMRF's Annai JKK Sampoorani Ammal college of Pharmacy, Namakkal (dt), Tamil Nadu, India
  • Subhashini A. Department of Clinical pharmacy, Prashanth Hospitals, Chennai, Tamil Nadu, India
  • Raveena R. V. Department of Clinical pharmacy, Prashanth Hospitals, Chennai, Tamil Nadu, India

DOI:

https://doi.org/10.18203/issn.2455-4510.IntJResOrthop20243148

Keywords:

Fibrodysplasia ossificans progressive, Heterotopic ossification, Bone morphogenetic protein, Activin A receptor type I gene, Activin like kinase 2

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder that causes heterotopic ossification of soft tissues, leading to abnormal bone growth in muscles, tendons, and ligaments. First identified in the 17th century, FOP was classified in 1968 and is linked to a mutation in the Activin A receptor type I gene (ACVR1) which affects bone morphogenetic protein (BMP). The autosomal dominant condition FOP has the potential to lead to aberrant bone development. At birth, FOP individuals appear normal, except for characteristic malformations of the great toes. FOP patients develop painful, inflammatory soft tissue swellings during the first decade of life, often precipitated by soft tissue injury. Minor trauma can trigger new flare-ups and leads to progressive heterotopic ossification. Most FOP sufferers are wheelchair-bound by their third decade and needs lifelong assistance with daily living tasks. Bone morphogenetic proteins (BMPs) are bound by the transmembrane kinase receptor ALK2, which is encoded by the (ACVR1/ALK2 gene). FOPs induce heterotopic bone formation in skeletal muscle and can be caused by mutations in the activin A receptor type I (ACVR1) and activin-like kinase 2 (ALK2) gene. Clinical therapy focuses on preventing and controlling inflammation, with ongoing research focusing on specific therapies targeting receptor activity, aberrant pathways, or cellular components influencing bone neo-formation.

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Published

2024-10-25