Fibrodysplasia Ossificans Progressiva
This is rare, severely disabling and an autosomal dominant disease. Patients suffering from this disease have recurrent painful episodes of soft tissue swelling and even development of tumors in muscle tissues. It is also a connective tissue disease and is caused by a mutation of the body`s repair process. This condition causes the fibrous tissues such as muscle, ligament, and tendon to be modified. Some cases have reported that injuries caused to joints can result in joints to become frozen in place. It is considered to be a genetic disorder. Due to this, the restriction of Fibrodysplasia ossificans progressiva patients is very restricted and even impossible at times.
It has been noted that children born with this condition have deformed big toes and may even miss a joint or a notable lump at a minor joint. The first instances of Ossification happen before the age of 10. The growth of the bone happens from the top downwards. Children suffering from Fibrodysplasia ossificans progressiva or FOP usually develop bone in the neck, shoulders, arms, chest, and the feet. The tumor-like lumps may develop immediately and can cause loss of mobility to the affected joints. It can also cause the affected person to lose the ability to fully open their mouth and limiting speech and eating. In case, the bone formation happens in the ribs, it prevents the lungs from functioning properly, causing breathing complications. This disease is so rare that most of the times the symptom is misunderstood as that of cancer, desmoid tumors, progressive osseous heteroplasia, and fibrosis. Due to this, the doctor can order biopsies, which will only further intensify the growth of these lumps. The usual life expectancy for such patients is 40 years if they are properly handled, however, in case, of complications the life expectancy can decrease even further.
It is mostly caused due to genetic disorders. The diagnosis of this condition will require you to contact the doctor immediately. For most patients, the malformation of the toe usually gives in. Also, there can be rapidly changing swellings on the neck, back, and the head. It should also be noted that many doctors are either not aware or they lack the knowledge about Fibrodysplasia ossificans progressiva. This leads to an incorrect diagnosis of this condition. It also leads to certain invasive procedures which only complicate the matter further or can even result in loss of mobility in the affected joints.
Currently, there is no effective treatment for Fibrodysplasia ossificans progressiva (FOP). Most patients opt for surgery to remove the excess bone, however, surgery only results in more bone formation, since the body automatically repairs itself post an operation. Researchers have been actively working on this condition trying to get more information and new treatments for the same. There are certain medications being developed which are believed to control the bone growth. Apart from that, certain other medicines can help provide relief from pain and inflammation of the joints. The condition gets worse over time, hence making it quite unpredictable.
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