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Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader
Ambika Gupta1, Puneeta Mishra1, Madhumita Roy Chowdhury1
1Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mother Child Block, Ansari Nagar, New Delhi, 110029, India.
Objectives:
To evaluate the natural history and to highlight the possible masqueraders causing diagnostic delay and iatrogenic interventions in Fibrodysplasia Ossificans Progressiva (FOP).
Methods:
Patient details with suspected FOP were retrieved from the patient registry from 2012 through 2021. Clinical records, X-rays, clinical photographs, and molecular testing results were captured. Follow-up was recorded where available.
Results:
A total of 16 patients with a clinical diagnosis of FOP were found. Twelve patients with both clinical and molecular records were included in this study. The median age of onset and diagnosis was 1.5 y and 6.5 y respectively with a median diagnostic delay of 3.5 y. The disease course was progressive in ten patients. Seven out of twelve patients were subjected to invasive procedures due to misdiagnosis, which exacerbated their disease progression.
Conclusions:
Clinical suspicion followed by molecular testing is straightforward for a confirmed diagnosis of FOP. It is not only diagnostic, cost-effective, and saves time but also avoids unnecessary interventions in these patients.
Insights
Early diagnosis of Fibrodysplasia Ossificans Progressiva (FOP) through clinical suspicion and molecular testing is crucial. This approach prevents diagnostic delays and avoids harmful interventions, improving patient outcomes.
Area of Science:
- Genetics
- Rare Diseases
- Medical Diagnostics
Background:
- Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder characterized by progressive ectopic ossification.
- Diagnostic delays in FOP can lead to misdiagnosis and unnecessary, harmful interventions.
Purpose of the Study:
- To evaluate the natural history of FOP.
- To identify factors contributing to diagnostic delays and iatrogenic interventions in FOP patients.
Main Methods:
- Retrospective review of patient registry data from 2012-2021.
- Inclusion of patients with suspected FOP, analyzing clinical records, imaging, and molecular testing.
- Follow-up data collection where available.
Main Results:
- Twelve patients with confirmed FOP were analyzed.
- Median age of onset was 1.5 years, with a median diagnostic delay of 3.5 years.
- Seven patients underwent invasive procedures due to misdiagnosis, worsening their condition.
Conclusions:
- Clinical suspicion combined with molecular testing provides a straightforward and accurate FOP diagnosis.
- Early and accurate diagnosis is cost-effective, saves time, and prevents iatrogenic harm.
- Prompt diagnosis is essential for managing FOP and improving patient prognosis.
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