Fibrodysplasia ossificans progressiva

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Everything you should know about Fibrodysplasia ossificans progressiva (FOP)

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Human Mutants: Fibrodysplasia Ossificans Progressiva

http://www.youtube.com/watch?v=EA9Cwdtcf8E

What is Fibrodysplasia ossificans progressiva (FOP)?

Fibrodysplasia ossificans progressiva (FOP), which is also referred to as myositis ossificans progressive, Stone man syndrome, is a rare and severe disease that affects the connective tissue. It is characterized by the damage of fibrous tissue as a result of a mutation of the natural repair function in the system. This leads to the ossification of fibrous tissue including tendon, muscle, and ligament, while the joints get permanently fixed in place due to injuries. The affected part of the body can be allowed to repair with more bone by a surgical removal of these extra bone growths.

What causes Fibrodysplasia ossificans progressiva (FOP)?

FOP is caused by a mutated chromosome that is linked by an autosomal dominant allele. The allele completely penetrates and has variable expressivity. Majority of cases affected by FOP is due to the continuous mutation inside gametes. In addition, majority of the subjects with FOP cannot give rise to offspring. FOP is also caused by the genetic mutation of ACVR1 (= ALK2) gene.

What are the Clinical features of Fibrodysplasia ossificans progressiva (FOP)?

Fibrodysplasia ossificans progressiva (FOP) is one of the rarest, inherited disorders of the connective tissue. It is associated with the abnormal bone development in normal boneless parts of the body such as the tendons, ligaments, and skeletal muscles. FOP disorder causes metamorphosis of the soft connective tissues and skeletal muscles in the body thereby transforming into bone. In addition, the condition progressively locks the joints in place, thus compromising movement.

FOP results in the malformation of big toes at birth (congenital) and various other skeletal deformities of the ribs and cervical spine. It promotes an abnormal bone growth at multiple soft tissue locations thus leading to periodic stiffness in affected parts and limited movement of the joints. It finally results in the ankylosis of affected joints especially shoulders, neck, elbows, knees, hips, wrists, jaw, ankles, in a sequential order.

In addition to that, FOP condition limits joint mobility by affecting areas such as the elbows, and knees by connecting the bones. In advanced cases of FOP, the ligaments including tendons and muscles get replaced by an extra bone thus causing a movement disability.

What parts are commonly affected by the FOP disorder?

FOP basically affects certain parts of the body such as the spine, neck, chest, elbows, jaw, shoulders, wrists, knees, hips, ankles, and many parts of the body. The ossification process gradually progresses by following a typical pattern. In general, growth of extra bone occurs in the spine, neck, and shoulders before advancing to the hips, elbows, and knees. Characteristically, the muscles of the face, tongue, diaphragm, eyes, and heart are spared.

How is the Fibrodysplasia ossificans progressiva (FOP) condition diagnosed?

In majority of cases, the fibrodysplasia ossificans progressiva (FOP) can be diagnosed by a physical examination of patient. The characteristic FOP feature includes a malformed big toe, and rapidly altering swelling of the neck, head or back. The condition is usually diagnosed during a patient's neonatal period.

What is the treatment for Fibrodysplasia ossificans progressiva (FOP)?

Currently, FOP has no effective treatment and medications are available to manage the FOP associated symptoms such as inflammation, pain and soon. Fibrodysplasia ossificans progressiva (FOP) should be treated early to avoid the aggravating signs of disease, to slow down the disease progression and to improve the quality of life in children. FOP related flares can be managed with prescription corticosteroids or systemic steroids, Rituximab and bisphosphonates.

Iontophoresis with acetic acid or steroid therapy improves joint immobility. Oral pain caused by the FOP disorder may be treated with oral anesthetic and surgical procedures. A minimally invasive surgical technique may be required. In addition, Gene therapy has been proposed to effectively treat fibrodysplasia ossificans progressiva conditon.

Suggested Watching

The Battle Against FOP

http://www.youtube.com/watch?v=vCa-6sS88e4

References:

http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva

http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/...

http://www.ifopa.org/en/faq.html

http://emedicine.medscape.com/article/1112501-treatment

http://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia_ossificans...

http://www.ifopa.org/en/symptoms.html

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Author: Dr Chaitra S

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