Fibrodysplasia Ossificans Progressiva: Causes, Symptoms, Diagnosis, Treatment

What Is Fibrodysplasia Ossificans Progressiva?

As stated, Fibrodysplasia Ossificans Progressiva is a rare genetic disorder of the connective tissues in which the fibrous tissues of the joints become hard or ossified either on its own or due to some sort of damage to the tissues transforming the tissues into bone permanently. These ossified tissues or new bone tend to grow abnormally in muscles, tendons, and ligaments and form bridges of extra bone all across the joints resulting in extremely restricted movement of the affected joints or in other words the joints become frozen. Some of the joints, which can be affected by Fibrodysplasia Ossificans Progressiva are neck, chest, shoulders, elbows, wrists, spine, hips, knees etc. In most of the cases, this disease causes the joint to be immobilized permanently. Fibrodysplasia Ossificans Progressiva is an autosomal dominant genetic disorder, thus the affected person needs to inherit gene from only one parent to get this disease; however there are only 50% chances of a parent passing on this disease to the child.

Fibrodysplasia Ossificans Progressiva

What Are The Causes Of Fibrodysplasia Ossificans Progressiva?

As stated, Fibrodysplasia Ossificans Progressiva is an autosomal dominant disorder. Majority of the cases of Fibrodysplasia Ossificans Progressiva are caused by mutation in gene ACVR1. The mutation in this gene changes the codon-206 from arginine to histidine, which in turn causes Fibrodysplasia Ossificans Progressiva.

What Are The Symptoms Of Fibrodysplasia Ossificans Progressiva?

The characteristic symptom of Fibrodysplasia Ossificans Progressiva is the presence of big toe malformation in a newborn baby. This malformation is characterized by a relatively short big toe with the toe being in a valgus position. Majority of children with Fibrodysplasia Ossificans Progressiva develop painful nodules or lumps in the neck, back and shoulders. These nodules usually develop after the child has had some sort of injury or trauma to these regions and in majority of the cases these nodules transform into bones. As the new bones are being formed, the individual may experience swelling of the tissues along with joint stiffness and pain in the joint. These periodic flares can last for up to eight weeks. Over a period of time these lesions or nodules replace the muscles with normal bone.

How Is Fibrodysplasia Ossificans Progressiva Diagnosed?

For majority of cases of Fibrodysplasia Ossificans Progressiva, a confirmatory diagnosis is made by looking at the visible deformation of the big toe with it being in a valgus position along with variable swelling in the head, neck, or back. Since the knowledge about Fibrodysplasia Ossificans Progressiva is relatively less among healthcare providers hence this disease is often misdiagnosed quite often and has led to unnecessary procedures being done resulting in permanent disability for some individuals. Some of the common misdiagnosed conditions are Cancer, Juvenile Fibromatosis, and Osseous Heteroplasia.

What Are Treatments For Fibrodysplasia Ossificans Progressiva?

As of now, there is no cure for Fibrodysplasia Ossificans Progressiva. Surgery to remove extra bone is contraindicated as it may result in more bone formation. Research is still ongoing to come up with an effective treatment for Fibrodysplasia Ossificans Progressiva. Researchers are working on a novel drug which can help control bone growth. Apart from this, medications are there to relieve other symptoms of Fibrodysplasia Ossificans Progressiva like pain and inflammation. Fibrodysplasia Ossificans Progressiva is a progressive disorder and gets worse with time but the progression of the disease is quite unpredictable.

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Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:December 22, 2018

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