1. FIBRODYSPLASIA OSSIFICANS PROGRESSIVA- A MAN INTO STONE SYNDROME
RAPCS2017
Tanwar Rohit*, Virmani Tarun, Virmani Reshu and Gupta Jyoti
DCM Edutech
Affiliation: School of Pharmaceutical Sciences, MVN University, Palwal, Haryana , INDIA
Abstract- Fibrodysplasia ossificans Progressiva (FOP) is rare genetic Connective Tissue Disorder in which soft tissue of the body got damage and transformed into bone.The first case of Fibrodysplasia Ossificans Progressiva was documented by Guy Putin in Till 2017, approximately 800 cases of FOP have been noted worldwide.FOP is characterised by malformation of great toes and progressive heterotropic ossification. the joints of body become immovable. It usually begins in the neck and shoulders and progresses along the back, trunk, and limbs of the body. FOP is caused by mutation in gene known as ACVR1 ( also known as ALK2) as a result structure and activity of Bone Morphogenic Protein (BMP) type change. Currently ,there are no effective medical treatment of FOP is available. However, research being going on for the treatment and prevention is looking in several directions including the disruption of related inductive signaling, suppression of immunological and inflammatory triggers, alteration of the osteoprogenitor cells in target tissues, and the modification of the environment that causes it to proliferate.
Key words- FOP, heterotropic ossificans,ACVR1,BMP,osteoprogenitor
Mechanism-
Introduction- FOP is a rare genetic disorder in which soft tissue of body got damaged and transformed into bone. The first case of Fibrodysplasia Ossificans Progressiva was documented by Guy Putin in Till 2017, approximately 800 cases of FOP have been noted worldwide.
Misdiagnosis-
Sign and Symptoms-
Many physicians are unknown with indications of FOP, resulting in 90% of FOP patients being misdiagnosed before finally receiving the correct diagnosis. Such misdiagnosis are
Myositis ossificans traumatica (MOT)
Rheumatoid Spondylitis
lymphedema, soft tissue sarcomas, or any kind of tumors
Treatment-
There is no effective treatment is available for FOP. But guidelines for symptom management are available.
Glucocorticoids are used to manage symptoms of flare-ups affecting major joints of the appendicular skeleton, particularly when used immediately after the beginning of a flare-up.
NSAIDS, cyclooxygenase-2 inhibitors, mast cell stabilizers and leukotriene inhibitors are reported by patients to manage chronic pain and ongoing disease progression.
Conclusion-
We should make physician and people aware about FOP so that it can early diagnosed.
Blocking activity of the mutant FOP receptor with soluble BMP antagonists, Inhibitory RNA technology, monoclonal antibodies directed against ACVR1, or small-molecule selective signal transduction inhibitors of ACVR1 receptor activity
References-
Kalpan.,F.S., Chhakalakal.,S.A. and Shore.,M.E.,The Company Of Biologist Ltd 2012,5,
Duffhue.,G.S., et.al., Annals of Translational Medicine 2016,4,1-5
Pignolo.,R.J., et.al., Orphanet Journal of Rare Diseases 2011,6,1-6
Presented at- RAPCS 2017,Sona Enclave, Modinagar (Delhi NCR) ,INDIA
On 4th-5th October,2017