Human Statues: What is Fibrodysplasia Ossificans Progressiva?

 Fibrodysplasia Ossificans Progressiva (FOP) is a disease that is largely unknown and ignored though it can have drastic effects on the lives of the patients it affects. FOP presents a unique set of symptoms that are unlike any other disease throughout history. It causes muscles and connective tissue to be turned into bone upon impact. This can cause limbs and portions of the affected person's body to solidify and be locked into place for the rest of their life. When this solidification can spread to the wrong places, the patient can have difficulty breathing, hearing, speaking, loss of the ability to function as an independent person, and death.

FOP is genetically inherited and is autosomal dominant. This means that if a parent has this disease, their offspring has a 75% chance of inheriting it. Children are often born without symptoms early in life yet can begin to have flare ups after a minor trauma, surgery, or procedures. People with this disease have a mutation in their ACVR1 gene that can cause the overproduction of Activin-A. This causes a hypersensitivity to BMP, or Bone Morphogenic Protein, which can stimulate the production of bone in places where it should not be.

There is no current cure for FOP because it is difficult to remove bone from where it has already grown in patients. The only measurement that can be taken to treat patients is to slow its progression. This includes avoiding any potential traumas to the patient's muscles and joints as well as the administration of corticosteroids that can temporarily reduce sensitivity to flare ups.

Ethics has to be taken into consideration in the treatment of FOP due to the general lack of knowledge that there is around it. Many physicians can violate the ethical rule of beneficence because of how often FOP can go undiagnosed. Since many doctors do not know much about FOP, it can often be misdiagnosed as the development of tumors and patients do not receive treatments that are beneficial to them. FOP should be given more attention and research funding in order to give as much help as possible to the people it affects.

Connor, JM, and DA Evans. “Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients.” The Journal of Bone & Joint Surgery British Volume, vol. 64-B, no. 1, 1982, pp. 76-83., https://doi.org/10.1302/0301-620X.64B1.7068725.

Hasegawa, K., Tanaka, H., Futagawa, N., Miyahara, H., & Tsukahara, H. (2022). Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes. Case Reports in Genetics, 1–6. https://doi-org.dml.regis.edu/10.1155/2022/5021758.