Fibrodysplasia ossificans progressive is a dominant genetic pathology, due to the mutation of a gene that is transmitted by at least one of the parents.

Fibrodysplasia ossificans progressive is a serious and disabling disorder of connective tissue. It is due to congenital malformations of the first toe of both feet and a progressive ossification of soft tissues: skeletal muscles, tendons, fasciae and ligaments.

Fibrodysplasia ossificans progressive is a rare disease, as its worldwide prevalence is approximately 2 / 1,000,000. It does not present racial, geographic or gender variations.

Clinical features

The ossification of extra-skeletal tissues is due to outbreaks since childhood. At birth, children suffering from this disease have congenital malformations in the big toes of both feet.

During the first decade of life, soft tissues become bone, generating progressive loss of mobility.

The first outbreaks usually occur in areas near the spine (neck and shoulders) and spread to other joints and muscle groups (hip, elbows and knees). Often, what triggers them are lesions in the tissue in question, intramuscular injections or viral infections.

The progress of the pathology is progressive and does not affect the smooth tissue, therefore, the facial muscles, the diaphragm and the heart are not compromised their functions.

Symptoms of fibrodysplasia ossificans progressive

Symptoms of progressive ossifying fibrodysplasia usually begin between four and six years. The evolution of the disease is variable and there are periods of latency and aggravation. Patients suffering from this pathology report the following symptoms:

  • Outbreaks of pain and muscle inflammation that end in a tissue ossification.
  • Loss of mobility, partial or complete.
  • Development of deafness and baldness in a third of cases.

Some patients have these characteristic features, along with more symptoms generally not associated with this disease, such as:

  • Intercurrent aplastic anemia.
  • Childhood glaucoma.
  • Stunted growth.
  • Craniopharyngioma.

Outbreaks of fibrodysplasia ossificans progressive

Outbreaks occur when soft tissue ossification begins. During these periods, patients may present with a low fever and general malaise, as well as acute pain and swelling.

The duration varies depending on the amount of tissue that is being transformed into bone, although, generally, they last from seven to nine weeks.

The majority of those affected report relief once the outbreak is over, which leads them to think that the pain is caused by bone formation and not the new tissue formed.

Diagnosis

Doctors make clinical evaluation to diagnose of fibrodysplasia ossificans progressive. Radiographic techniques can confirm more subtle anomalies of specific areas, but it is genetic tests that confirm the diagnosis.

It is important to make a correct differential diagnosis so as not to confuse this pathology with another of similar characteristics, such as: progressive bone heteroplasia, lymphedema, osteosarcoma, soft tissue sarcoma or acquired hetertopic ossification.

Treatment

Currently, no definitive treatment for this disease exists. However, affected patients must follow a series of preventive guidelines and adequate pharmacological treatment to alleviate pain.

In the presence of outbreaks, doctors usually administer high doses of corticosteroid drugs, in periods of 4 days, starting 24 hours after the onset of the outbreak, to reduce the inflammation and tissue edema characteristic of these phases.

Doctors recommend to avoid any trauma to the muscle by applying preventive measures against falls and bumps: improving home safety, using special protection for physical activities.

Physiotherapy can help reduce the patient’s pain, but it must be gentle and always directed by a health professional. Also, to soften outbreak pain doctors usually use cryotherapy.

Doctors should perform surgical interventions and intramuscular injections only in cases of maximum need.

Current situation

The average life expectancy is approximately 50 years. Most patients lose mobility during the second decade of their life and die from complications of thoracic insufficiency syndrome.

Currently, the investigation of treatments for progressive ossifying fibrodysplasia aims to delay tissue ossification. Clinical trials with drugs that, used in infusion at the onset of outbreaks, could inhibit calcification of soft tissues are being carried out.

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