Fibrodysplasia Ossificans Progressiva: When the Body Turns to Bone

With early documented cases dating clear back into the 17th century, fibrodysplasia ossificans progressiva (otherwise known as FOP) is a frightening and rare disease in which the patient's muscle and other soft tissues, such as tendons and ligaments, progressively turn into bone. Over time, this disabling condition causes bridges of extra bone to form over the joints, eventually imprisoning the body within a second skeleton.

What is Fibrodysplasia Ossificans Progressiva?

Fibrodysplasia ossificans progressiva is a rare genetic condition which causes bone to form in soft connective tissues, as well as the muscles, tendons and ligaments. Originally called myositis ossificans progressiva, meaning "muscle turns into bone," the name was modified in the 1970's, when Dr. Victor McKusick determined this condition not only affected the muscles, but other soft connective tissue as well. While known to be genetic, to date, there is no known cause for this disease.

In children, one of the first clues that can be tied to FOP are malformed large toes. Instead of a normal big toe, infants with fibrodysplasia ossificans progressiva have a malformed toe that is either abnormally short, bent or that is curved dramatically inward. While these malformed toes rarely cause any pain or discomfort for the child, they are often a key sign that a child may suffer from this condition.

Most people who are affected with this congenital disease find out that they have it before the age of 10. Prior to this age, they often encounter inflamed areas and painful swellings in their shoulder and back. When the swelling goes back down, it leaves behind a new piece of bone. Most children who suffer from FOP do not go through a crawling stage due to neck and joint problems. This can be another clue that the child may be suffering from fibrodysplasia ossificans progressiva.

Who is at Risk?

FOP is estimated to affect roughly 3,300 people, worldwide - that's roughly 1 in every 2 million people who suffer from this unusual genetic disease. Currently, there are less than 300 confirmed cases in the United States and 700 confirmed cases around the globe (the estimated number is considerably higher, due to many cases being misdiagnosed as cancer). Despite extensive testing, there appears to be no ethnic or racial patterns to this disease at this time.

What Causes FOP?

FOP is a genetic disease and is known to be congenital, meaning that it is present before a child's birth. In April, 2006, Researchers at the University of Pennsylvania School of Medicine announced that they had discovered the gene that was responsible for fibrodysplasia ossificans progressiva. Research is now underway, attempting to find a way of not only treating, but curing this painful condition.

Treating Fibrodysplasia Ossificans Progressiva

Many people ask if FOP can be treated with surgery, to which the answer is yes - New bone growth can be removed from the body. However, it's also been discovered that surgery usually makes the condition even worse, often causing an increase in flare-ups and additional bone growing in the inflamed areas. Any kind of body trauma can increase the likelihood of FOP flare-ups, including a fall, a bump or an intramuscular injection.

Currently, there is no cure for fibrodysplasia ossificans progressiva. As the word "progressiva" suggests, the condition is progressive, meaning that it steadily continues to get worse as the person ages. At this time, the best form of treatment is to simply keep the person as comfortable as possible, providing medication to help with inflammation, swelling and fever during flare-ups. When the person is not experiencing a flare up, one should try to minimize activities that may aggravate the condition.

Sources:

http://www.ifopa.org/ - Information on the disease

http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva - More information on FOP