Fibrodysplasia ossificans progressiva

The fibrodysplasia ossificans progressiva ( FOP short ), also known as fibrodysplasia ossificans progressiva multiplex, myositis ossificans progressiva or münchmeyer syndrome, describes the pathological, progressive ossification of the connective and supporting tissue of the human body.

Frequency

The disease was first mentioned in 1692. FOP is an autosomal dominant hereditary, but it hardly occurs that FOP patients had children. This also leads to the low propagation. Worldwide medicine are currently about 600 known cases. However, it is assumed that several thousand cases worldwide. According to a statistics, only one among 2 million is concerned, this would correspond to currently about 3250 people. Since FOP is one of the rarest diseases in the world, it has long been unexplored. U.S. scientists did not begin until the late 20th century to investigate the circumstances especially with the help of genetic research. Much credit to the previous research of the disease have the pediatrician Dr. Michael Zasloff and orthopedic surgeon Dr. Fred Kaplan. 1997 preliminary results of research on the cause could be published.

Cause of illness

The disease is caused by the lack of a Abschaltsignales for a gene which controls the growth of skeleton during the development of a fetus. This develop the fibrocytes in wound healing bone instead of normal scar tissue, which leads even the smallest of injuries that the body goes slowly.

Detection / symptoms

Already after birth are signs of this disease, which shortened and twisted big toe of the feet, lockable. At the outbreak of the disease areas of the body are bloated and get very hot. The blood vessels are then clearly seen. After a few days the tissue forms back. However, can now be seen on radiographs that here new bone arise.

Course

Due to the circumstances of their creation this disease usually runs from top to bottom. So first the muscles and the connective and supporting tissue in the neck and shoulders are affected, then in arms, chest, abdomen, pelvis to the legs and feet. In addition, injuries can cause (for example, bruises, tears, cuts and punctures ) extra bone growth on muscle tissue. For this reason is absolutely not advisable to administer or even to remove the affected tissue intramuscular injection. With advancing age there occurs a reduction in lung function due to the decreased chest movement in most patients.

Therapy / treatment opportunities

Currently there is no therapy for the treatment, and no way for the Prevention of FOP.

Currently, research is being conducted on drugs that prevent new FOP flare-ups, or at least its effect to reduce. Important findings in this way are:

• Isolation of the gene, the formation of the bone-forming substance controls ( bone morphogenetic protein ( BMP) )
• Scientific proof of the cause of disease by a similar fly gene: After the mutation of this gene, the gene-mutated flies the FOP showed similar symptoms.
• Discovery of a gene ( Noggin ) in mice that can stop the deposition of bone
• Lymphocytes of FOP patients attack the body's own muscle injuries, they transport the osteogenic BMP to the wound.
• Discovery of a substance in sharks, which prevents the formation of bone from cartilage. The substance is regarded as the greatest hope for the treatment of FOP.