Fibrodysplasia ossifacans progressiva

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Fibrodysplasia ossificans progressiva (FOP) is a rare catastrophic genetic disorder caused by the lack of regulation of the bone morphogenic protein (BMP).
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Presentation transcript:

Fibrodysplasia ossifacans progressiva By Dania blanco

What is Fibrodysplasia ossificans progressiva? Fibrodysplasia ossificans progressiva, also known as FOP, is a disorder in which muscle and connective tissue are gradually replaced by solid bone. In many cases, injuries can cause joints to fuse together and become permanently frozen in place.

The body “heals” the damaged area with bone instead of new muscle tissue.

Past History In the late 17th century, a French physician Guy Patin met a patient who was the first patient to be diagnosed with FOP. The most famous person who was diagnosed with FOP is Harry Eastlack. His limbs got locked into place once the tissue turned into bone. He was so ossified, he could only move his lips. He lived up to be 40 years old before he died of his disease.

Since he donated his body to science, his skeleton was displayed in a museum in Pennsylvania.

Signs and symptoms Tumor like swelling in the shoulders and back. Malformation of a newborns big toe. When the body starts to generate new bone, the patient usually experiences a painful flare-up.

Mode of transmission The only way to get FOP is through genetics. It is rare for an offspring to get FOP if their parents have it.

Current state of disease 1 in 2 million people are born with this disease. 1,000 people suffer from this disease worldwide. It is extremely rare to be born with this disease. Because of the lack of knowledge of FOP among doctors, the rate of misdiagnosed of the disease is estimated at 80 percent or higher. It is mostly misdiagnosed for cancer

Past treatments In the past they would attempt to remove the excess bone surgically. But that only resulted in more bone formation.

Current Treatments There is no known cure for FOP Medications are available to help ease pain and inflammation.

Future treatments and outlook for disease A drug is being developed that may help to control bone growth. There is only one doctor, M.D Frederick S. Kaplan, that is looking for a cure for this disease.