Fibrodysplasia ossificans progressiva: muscles-turning-to-bones disease

What is Fibrodysplasia ossificans progressiva (FOP)?

 It is a disorder in which the muscles, tendons, ligaments and other connective tissue to turn gradually into bones, forming bones outside the skeletal system and replacing muscles which causes progressive loss of mobility as the joints become affected. It will enable one to fully open your mouth that causes malnutrition and allow patient to have hard breathing because of extra bone formation in the rib cage.

Signs/Symptoms

Very first symptom is the malformation of the big toe and it occurs at birth. It also forms a painful fibrous nodules, or tumor-like swellings, over the neck, back and shoulders, which occurs after the body has experienced a trauma like bump or fall. When the patient forms new bone, a 'flare-up' or a painful attack usually happens as early as the age of 10. Tissue swelling, joint stiffness and serious discomfort can occur. Some may have a low-grade fever. Although a person is born with FOP, extra bone may not appear at birth and he or she may go months or years without experiencing a flare-up, which signals the development of new bone.

 A person with a FOP throughout his lifetime.

Etiology

FOP or fibrodysplasia ossificans progressiva (fibro-dis-play-sha os-sih-fih-cans pro-gress-ev-a) means "soft connective tissue that progressively turns to bone."
The earliest documented cases date back to the 17th and 18th centuries. This disease became known as myositis ossificans progressiva, which means "muscle turns progressively to bone." The name was officially fibrodysplasia ossificans progressiva in the 1970s named by Dr. Victor McKusick of Johns Hopkins University School of Medicine, who is considered the father of Mdical Genetics.

Occurrence

This is a one of the rarest, genetic disabling disorder, occurring in approximately 1 in 2 million worldwide. There are almost 200 cases in US and UK. It mostly occurs in white people and more in females than males because the transmission has been observed to exclude X-linked inheritance. No age group is specifically attacked because this disease is present at birth.

 Mode of transmission

This disease is hereditary, that's why it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. If a parent has this, 50% the chance the child will have it.

Diagnosis

This disease has been commonly misdiagnosed as cancer, Fibrous Dysplasia and Aggressive Juvenile Fibromatosis. An accurate diagnosis of this disease is best based on patient's characteristics and malformation of the toes in addition on the swelling of the neck, head or back. 

Treatment

 There is no cure for this disease but early treatment can avoid factors of aggravation, slows the progression of the disease and provides a better quality of life. Surgicals of attempting to remove the extra bones can just worsen the disease. Bisphosphonates and corticosteroids are just effective for the flares. Although Gene therapy can somehow hold a promise in the disease's treatment.

Management/Prevention

For children, activities of less physically interactive play may be helpful to reduce falls. Activities that avoid passive range of motion which could lead to disease flare-ups. The use of ambulatory devices and head gears can all prevent falls and minimize injury when falls occur. Great and preventive oral and dental care are essentials particularly in overstretching of the jaw and intramuscular injections of local anesthetic.

Nursing Intervention

This patient needs a full time nursing care. A brief 4 day course of high-dose corticosteroids, within the 24 hours of a flare-up, may help reduce the intense swelling. Be careful on how to guide the patient, because a nurse should prevent the patient from a bump or fall, side-rails must always be up.