Medical guidelines for fibrodysplasia ossificans progressiva
Frederick S Kaplan1, Mona Al Mukaddam2, Genevieve Baujat3
1Departments of Orthopaedic Surgery, Medicine, and the Center for Research in FOP and Related Disorders, The Perelman School of Medicine at The University of Pennsylvania, Penn Medicine University City, Philadelphia, PA 19104, United States.
JBMR Plus
|October 27, 2025
Summary
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder. Current management focuses on early diagnosis, injury avoidance, and symptom relief to optimize function.
Area of Science:
- Genetics and rare diseases
- Orthopedics
- Rheumatology
Background:
- Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder.
- Characterized by congenital malformations of the great toes and progressive heterotopic ossification (HO).
- HO follows specific anatomical patterns, leading to significant disability.
Purpose of the Study:
- To summarize current management strategies for FOP.
- To provide guidance for early diagnosis and injury avoidance.
- To outline symptomatic treatment and functional optimization approaches.
Main Methods:
- A summary statement developed by experts from the International Clinical Council on FOP (ICC).
- Involved 21 ICC members and 7 consultants from 15 countries with FOP expertise.
- Based on clinical expertise and current understanding of FOP management.
Main Results:
- Current management emphasizes early diagnosis and meticulous avoidance of injury.
- Focus on symptomatic amelioration of painful flare-ups.
- Optimization of residual function is a key goal.
Conclusions:
- Further therapeutic advances require rigorous clinical trials for novel strategies.
- A comprehensive guide is available on the ICC website.
- Early intervention and careful management are crucial for FOP patients.
Keywords:
ACVR1BMP signaling pathwayfibrodysplasia ossificans progressivaguidelinesheterotopic ossificationMore Related Videos
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