FOP Awareness Day 2021

What is Fibrodysplasia Ossificans Progressiva (FOP)?

Fibrodysplasia Ossificans Progressiva, or FOP, is an ultra-rare genetic disorder that causes bone to form where it should not –
outside of the skeleton and in the soft and connective tissues such as in the muscles, tendons and ligaments. Learn more about
the signs, the importance of correct diagnosis and some of the available resources.

Signs of FOP

A diagnosis of FOP can be made based on some characteristic clinical signs and symptoms, such as having turned-in great toes and recurring flare-ups. There is also a genetic test for the FOP gene that can provide confirmation of a FOP diagnosis.

Accurate FOP Diagnosis is Important

Getting an accurate diagnosis of FOP is important as it can make a big difference in how your, or your loved one’s, health is managed.

Resources

To help raise awareness of Fibrodysplasia Ossificans Progressiva (FOP), we have launched Focus on FOP – a new website with resources, facts and information on FOP.

What is FOP?

Celebrating 15 Years since the Announcement of Discovering the Mutation in the ALK2/ACVR1 Gene

Each year, FOP Awareness Day is recognized across the globe on April 23 to mark the announcement of discovering the mutation of the ALK2/ACRV1 gene. First announced April 23, 2006, 2021 is the 15th anniversary of this important scientific milestone in FOP research.

Researchers discovered that FOP is caused by having an altered copy of a gene called Activin-Like Kinase 2 or ACtiVin Receptor type-1 (ALK2/ACVR1).

In people living with FOP, the altered copy of this gene leads to an overactive protein that is responsible for extra bone formation.

A person who is living with FOP would need to have either inherited a faulty copy of the ALK2/ACVR1 or ‘FOP gene’ from a parent with the condition or had a spontaneous mutation occur in the gene while developing in the womb. Most cases of FOP occur in people with no family history of the disease.

Uniting for FOP with the International FOP Association

This year, 11 FOP organizations across 15 countries, are coming together to celebrate FOP Awareness Day with a unified, global message – Uniting for FOP.

Visit their website or follow along on their social media channels to learn more about FOP, the FOP community and how you can get involved.

Visit IFOPA.org

Uniting for FOP

Check out these FOP facts

FOP is an ultra-rare disease affecting around 136 out of 100 million people in the world.

Fibrodysplasia ossificans progressiva, or FOP, is the only known disease where one body system turns into another - soft tissue becomes hard bone - forming a second skeleton which restricts movement.

Bone growth in the muscles of the face and mouth can make a person with FOP's jaws lock, making eating and dental care extremely difficult.

Just over half of all people living with FOP are wrongly diagnosed, which results in unnecessary or harmful interventions.

Recent Tweets

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Sources

Shore E, Kaplan FS. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006; 38:525–7.

Shore EM, Kaplan FS. Inherited human diseases of heterotopic bone formation. Nat Rev Rheumatol. 2010; 6(9):518–27.

Kaplan FS et al. J Bone Miner Metab. 2008;26:521-530

Baujat G et al. Orphanet J Rare Dis 2017;12:123

Kaplan FS, Al Mukaddam M, Baujat G, et al. The Medical Management of Fibrodysplasia Ossificans Progressiva: Current Treatment Considerations. Proc Intl Clin Council FOP. 2019; 1:1–111.

Di Rocco M, Baujat G, Bertamino M, et al. International physician survey on management of FOP: a modified Delphi study. Orphanet J Rare Dis. 2017;12(1):110.

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Raising Awareness on Fibrodysplasia Ossificans Progressiva Awareness Day