Abstract

LITERATURE REVIEW ON FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (FOP) OR MUNCHMEYER DISEASE

Maha George Manapurthu*, Deepashree C., Roopali Pradeep and Maria Nivedha

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Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare and debilitating genetic disorder characterized by progressive heterotopic ossification (HO) of soft tissues, leading to severe skeletal malformations and immobility. This review synthesizes current research findings on FOP, highlighting its epidemiology, pathophysiology, clinical presentation, diagnosis, and management strategies. Epidemiological studies suggest that FOP affects approximately 1 in 2 million individuals worldwide, with no gender or ethnic predilection. The condition arises from mutations in the ACVR1 gene, encoding the activin receptor type I/activin-like kinase 2 (ALK2), leading to dysregulated bone morphogenetic protein (BMP) signalling and aberrant HO. Clinically, FOP manifests with characteristic congenital malformations of the great toes and progressive HO in predictable patterns, often triggered by trauma or inflammation. Early diagnosis is paramount, requiring a high index of suspicion and confirmation through genetic testing. However, misdiagnosis remains common due to the rarity and complexity of FOP, necessitating awareness among healthcare providers. Management strategies focus on preventing HO formation through meticulous avoidance of invasive procedures, including biopsy and surgery, which can exacerbate disease progression. Symptomatic treatment targets inflammatory flares with corticosteroids or nonsteroidal anti-inflammatory drugs (NSAIDs) and utilizes physiotherapy to maintain joint mobility and function. Although curative therapies are lacking, emerging treatments targeting the BMP signalling pathway hold promise for disease modification. In conclusion, FOP poses significant challenges in diagnosis and management, emphasizing the importance of multidisciplinary care and ongoing research efforts to improve patient outcomes.

Keywords: Fibrodysplasia ossificans progressiva, heterotopic ossification, ACVR1 gene, bone morphogenetic protein.