Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling genetic condition characterized by progressive ossification of soft tissues, leading to the formation of an extra-skeletal bone. This condition is caused by a mutation in the ACVR1 gene.

Symptoms

The first symptoms of FOP usually appear in early childhood, with the most common being malformed big toes. Other early symptoms include painful, soft tissue swellings or lumps that may be mistaken for tumors. Over time, these lumps gradually turn into bone, a process known as ossification. This ossification often starts in the neck and shoulders, then progresses down the body and into the limbs.

Causes

FOP is caused by a mutation in the ACVR1 gene. This gene provides instructions for making a protein that is involved in the growth and development of bones and muscles. The mutation causes the protein to be overactive, leading to the abnormal bone growth seen in people with FOP.

Diagnosis

Diagnosis of FOP is often challenging due to its rarity and the similarity of its symptoms to other conditions. It is usually based on the characteristic physical features, such as malformed big toes and progressive ossification of soft tissues. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for FOP. Treatment is focused on managing symptoms and improving quality of life. This may include medications to reduce pain and inflammation, physical therapy to maintain mobility, and surgery to remove extra bone growth. However, surgery is often avoided as it can trigger further ossification.

Prognosis

The prognosis for individuals with FOP varies. The condition is progressive, meaning it gets worse over time. Most people with FOP become immobilized by extra bone growth by their third decade of life. However, with appropriate management, individuals with FOP can lead fulfilling lives.

See also

• Genetic disorders
• Bone disorders
• Rare diseases

References

Fibrodysplasia ossificans progressiva Resources
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