What is FOP?
FOP is an abbreviation for the disease fibrodysplasia ossificans progressiva, one of the rarest and most disabling genetic conditions known to medicine. FOP causes progressive bone formation in muscles, tendons, ligaments and other connective tissues. The muscle tissue is replaced by bone tissue. Bridges of extra bone develop across joints, progressively restricting movement and forming a second skeleton that imprisons the body in bone. Besides FOP there are no other examples in medicine of one normal organ system turning into another.
Any kind of trauma causes the disease to worsen. Bumps or falls, injections, viruses or operations cause a wrong response of the body, which sets the process of flare ups and bone formation in motion. A high amount of caution is therefore required.
At birth the only sign of the disease is usually the deviation of the big toes. These are often too short, bent and sometimes at an angle to the inside. This is a very important feature, because many patients with FOP get a wrong diagnosis in first instance. That’s because the flare ups look very similar to some forms of cancer, therefor doctors will perform one or more biopsies to make the actual diagnosis. These operations, however, cause a kind of 'explosion' of new flare ups, with all consequences and bone growth that will follow. A rapid and accurate diagnosis is essential.
The flare ups start in the course of childhood, usually before the tenth year. The initial flare ups often arise in the neck or in the shoulders, also flare ups in the face or on the head are not uncommon. During the following years flare ups spread further in a for the disease characteristic pattern, through neck and shoulders, back, chest, arms and legs. A flare up usually remains in place about 6 weeks. In many cases new bone is formed in the flare up. You can feel it when the flare up has subsided.
The disease is extremely rare. It is estimated that FOP affects 1 in 2 million people. According to this estimate there should be 2,500 patients worldwide, but there are only 800 cases known of which 9 cases are in the Netherlands.
F.O.P. is a genetic disease, a patient having FOP has a 50% chance to pass the disease on to his child. However in most patients the disease is not genetically passed on by the parents but started spontaneously, a ‘freak of nature’, so to speak. The disease is in fact so progressive that you cannot just be a carrier, it always will arise somewhere in childhood. Most patients do not forward to have children, because of the progression of the disease or because they do not want to risk passing on FOP to their children. In the whole world there are only a few multiple generation FOP families.
Research is conducted on a small scale. All hope of FOP patients is focused on the research laboratory at the Medical University of Pennsylvania in the United States. A team of experts, led by Dr. Frederick Kaplan, tries to find the "skeleton key"; the key why the body produces bone in places where it should not. The laboratory was founded in 1992 and has already managed to make great efforts. In April 2006 the research team was able to locate the gene responsible for the bone growth. Since then they have studied on how this gene works and more importantly how the devastating effect can be stopped. However, the laboratory depends for 75% on private donations, largely paid by FOP patients and their families and friends.
Of course we all hope that a cure can be developed as soon as possible in order to stop this disease. The research on FOP might also have major implications for the treatment of more common ailments such as broken bones, osteoporosis, hip operations and other forms of unwanted bone growth resulting from accidents or burns.
Any kind of trauma causes the disease to worsen. Bumps or falls, injections, viruses or operations cause a wrong response of the body, which sets the process of flare ups and bone formation in motion. A high amount of caution is therefore required.
At birth the only sign of the disease is usually the deviation of the big toes. These are often too short, bent and sometimes at an angle to the inside. This is a very important feature, because many patients with FOP get a wrong diagnosis in first instance. That’s because the flare ups look very similar to some forms of cancer, therefor doctors will perform one or more biopsies to make the actual diagnosis. These operations, however, cause a kind of 'explosion' of new flare ups, with all consequences and bone growth that will follow. A rapid and accurate diagnosis is essential.
The flare ups start in the course of childhood, usually before the tenth year. The initial flare ups often arise in the neck or in the shoulders, also flare ups in the face or on the head are not uncommon. During the following years flare ups spread further in a for the disease characteristic pattern, through neck and shoulders, back, chest, arms and legs. A flare up usually remains in place about 6 weeks. In many cases new bone is formed in the flare up. You can feel it when the flare up has subsided.
The disease is extremely rare. It is estimated that FOP affects 1 in 2 million people. According to this estimate there should be 2,500 patients worldwide, but there are only 800 cases known of which 9 cases are in the Netherlands.
F.O.P. is a genetic disease, a patient having FOP has a 50% chance to pass the disease on to his child. However in most patients the disease is not genetically passed on by the parents but started spontaneously, a ‘freak of nature’, so to speak. The disease is in fact so progressive that you cannot just be a carrier, it always will arise somewhere in childhood. Most patients do not forward to have children, because of the progression of the disease or because they do not want to risk passing on FOP to their children. In the whole world there are only a few multiple generation FOP families.
Research is conducted on a small scale. All hope of FOP patients is focused on the research laboratory at the Medical University of Pennsylvania in the United States. A team of experts, led by Dr. Frederick Kaplan, tries to find the "skeleton key"; the key why the body produces bone in places where it should not. The laboratory was founded in 1992 and has already managed to make great efforts. In April 2006 the research team was able to locate the gene responsible for the bone growth. Since then they have studied on how this gene works and more importantly how the devastating effect can be stopped. However, the laboratory depends for 75% on private donations, largely paid by FOP patients and their families and friends.
Of course we all hope that a cure can be developed as soon as possible in order to stop this disease. The research on FOP might also have major implications for the treatment of more common ailments such as broken bones, osteoporosis, hip operations and other forms of unwanted bone growth resulting from accidents or burns.
FOP forms additional bone
The X-ray clearly shows what the disease does: The muscle bundle in the neck, on the left of the cervical spine has become blunt. Between this new bone and the cervical vertebrae a "bridge" is formed that causes the neck to lock.
