Definition

What is Fibrodysplasia ossificans progressiva (FOP)?

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.

How common is Fibrodysplasia ossificans progressiva (FOP)?

Fibrodysplasia ossificans progressiva (FOP) is a rare condition. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Fibrodysplasia ossificans progressiva (FOP)?

The common symptoms of Fibrodysplasia ossificans progressiva (FOP) are:

  • Abnormal vertebral morphology
  • Abnormality of the first metatarsal bone
  • Ectopic ossification in ligament tissue
  • Calcification of muscle tissue
  • Limitation of joint mobility
  • Short hallux
  • Spinal rigidity
  • Subcutaneous nodule
  • Alopecia
  • Aplasia/Hypoplasia of the phalanges of the hallux
  • Clinodactyly of the 5th finger
  • Hearing impairment
  • Respiratory insufficiency
  • Anemia
  • Failure to thrive
  • Glaucoma
  • Hallux valgus
  • Intellectual disability
  • Seizures
  • Synostosis of joints
  • Autosomal dominant inheritance
  • Broad femoral neck
  • Conductive hearing impairment
  • Ectopic ossification in tendon tissue
  • Metaphyseal widening
  • Progressive cervical vertebral spine fusion
  • Respiratory failure
  • Scoliosis
  • Sensorineural hearing impairment
  • Short 1st metacarpal
  • Small cervical vertebral bodies
  • Widely spaced teeth

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Fibrodysplasia ossificans progressiva (FOP)?

Most cases of Fibrodysplasia ossificans progressiva result from new mutations in the gene ACVR1. The mutation in this gene changes the codon-206 from arginine to histidine which in turn causes Fibrodysplasia ossificans progressiva. These cases occur in people with no history of the disorder in their family.

In only a small number of cases, an affected person has inherited the mutation from one affected parent. Fibrodysplasia ossificans progressiva is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Risk factors

What increases my risk for Fibrodysplasia ossificans progressiva (FOP)?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Fibrodysplasia ossificans progressiva (FOP) 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.

How is Fibrodysplasia ossificans progressiva (FOP) treated?

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.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Fibrodysplasia ossificans progressiva (FOP)?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

 

Sources

Review Date: January 29, 2018 | Last Modified: January 29, 2018

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