Fibrodysplasia Ossificans Progressive – The Bone Disease
Without bones, your body would be a giant mass of unsupported meat with no clear way of remaining upright. You would therefore think that bones are a necessity to your existence, but as always too much of anything is a bad thing. Welcome to the Fibrodysplasia ossificans progressive, a rare disease that affects one’s muscle tissue, tendons and ligaments and ossifying them into bones. Gradually as one ages, the body’s soft tissue hardens becoming bone and limiting mobility with each newly affected are until the person is finally dead.
Fibrodysplasia ossificans progressive is a genetic disease and being a dominant gene, one needs only one parent to have it to get the disease. In some instances though, the disease has been known to pop up in patients who have no parent possessing the gene (where the ACVRI gene mutates on its own), and because of the nature of the disorder, studying of the disease is difficult and doctors know little of what else apart from genetics triggers the appearance of the disease.
Symptoms and Diagnosis
One is born with FOP, and the most obvious sign is the disfigured big toe in what is known as the hallus valgus deviation. As the child grows up, he will experience flare ups of abnormal swellings and growths in the areas of the head, neck, spine, back and shoulders. The swellings almost resemble those of tumor growth and this is a common misdiagnosis. The swellings generally are sparked off by trauma to the body like a bump, injury or fall or a viral infection such as the ‘flu’ but may also start suddenly with no cause.
The rate at which the tissue starts to form into bone is different in each person, but every new bump or form of pressure is said to trigger further bone growth at a faster speed. The swellings and distensions can be extremely painful for the patient and one may need powerful painkillers to cope with the pain. Some patients are also known to develop a fever.
Luck has it that this disease is rare (one in 2 million people) because there is no known treatment for it and it is as of now 100% fatal. The best doctors can do is to offer some pain management medication to ease the pain as new bones replace soft tissue, but any invasive procedure is likely to make the transformation even faster and so it is not an option, at least not while the patient is still alive. The best that can be done is to offer the patient a better quality life and try to make them as comfortable as possible.
Scientists are currently carrying out research on ways and medications to help reduce or stop the turning of the soft tissue into bone and so curtail the disease before the whole body turns into bone.
Informally known as the stone man syndrome, Fibrodysplasia ossificans progressive will at the end leave the patient like a statue as at the end the person loses all mobility. For those dealing with such a case, it is best to see a muscle and bone specialist and once the patient has been properly diagnosed, to find a knowledgeable caretaker, because you will be needing all the help you can get to manage the disease.
- British Journal of Anaesthesia 97 (5): 701–3 (2006) doi:10.1093/bja/ael251 Advance Access publication September 26, 2006rences (M. Tumolo*, A. Moscatelli and G. Silvestr).
- FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Case report by Andre Leite Gonçalves, Marcelo Rodrigues Masruha, Carmelinda Correia de Campos, Patricia Longo Ribeiro Delai, Luiz Celso Pereira Vilanova.
- Insights from a Rare Genetic Disorder of Extra-Skeletal Bone Formation, Fibrodysplasia Ossificans Progressiva (FOP) by Eileen M. Shorea and Frederick S. Kaplanb