fibrodysplasia ossificans progressiva: case report of a terminal patient

What is fibrodysplasia ossificans progressiva?

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder, characterized by painful swelling of muscles and connective tissue in the early years of life, consequently leading to ossification at a mean age of 4-5 years.

How many cases of fibrodysplasia ossificans progressiva have been diagnosed in Sudan?

Four cases were diagnosed with fibrodysplasia ossificans progressiva within a period of two years (2014-2016) at Omdurman Military Hospital, Khartoum, Sudan. A 10-year-old male was referred to our orthopaedic department for limited shoulder range of movement and truncal swelling noticed over a period of one year.

What is the rate of progression of fibromuscular osteoporosis (FOP)?

The rate of progression of FOP widely varies with the heterotopic ossification found to first affect the neck, shoulder, upper back, and chest. FOP tends to progress in a centrifugal pattern from the axial skeleton to the extremities, with the lower extremity affected last.

What are the treatment options for fibrocartilage osteoporosis (FOP)?

Almost always, FOP needs to be treated conservatively with non-steroidal anti-inflammatory drugs (NSAIDs) and gentle physiotherapy. Aside from anesthetic complications, surgical interventions provoke more bone formation, hence the recurrent joint restriction. Therefore, surgery should only be reserved for severely disabling deformities.

What is the life expectancy of someone with FOP?

The median estimated lifespan of individuals with FOP is approximately 56 years of age.

What happens to the person suffering from ossificans progressiva?

Extra-skeletal bone formation causes progressive loss of mobility as the joints become affected. Inability to fully open the mouth may cause difficulty in speaking and eating. Over time, people with this disorder may experience malnutrition due to their eating problems.

When was the first case of fibrodysplasia ossificans progressiva?

Fibrodysplasia ossificans progressiva (FOP), once called myositis ossificans progressiva, is a rare autosomal disorder that involves connective tissue. FOP is hall-marked by progressive heterotopic ossification and distinctive skeletal malformation. It was first reported by Patin (1692) and Freke (1739).

How many confirmed cases of FOP are there?

FOP is a very rare inherited connective tissue disorder that was first identified in the 18th century. Of an estimated 4000 affected individuals worldwide, there are approximately 900 known patients.

Can fibrodysplasia ossificans progressiva be passed down?

FOP is a rare condition, occurring at a population frequency of about one per 2 million, and can be inherited by autosomal dominant inheritance, although most cases are sporadic new mutations in the affected person. A child carrying the FOP-causing mutation is usually born following an uneventful pregnancy.

Is fibrodysplasia ossificans progressiva fatal?

Treatment and prognosis. This is a progressive, fatal disease with the median survival being 45 years.

Can you grow extra bones?

What is osteochondroma? Osteochondroma is an overgrowth of cartilage and bone that happens at the end of the bone near the growth plate. Most often, it affects the long bones in the leg, the pelvis, or the shoulder blade. Osteochondroma is the most common noncancerous bone growth.

Is there any cure for FOP?

Currently, there is no cure for FOP. Courses of high-dose corticosteroids at the start of a flare-up can reduce some of the symptoms of the condition.

Who found FOP?

The FOP gen was discovered in 2006 by Shore et al. (6). This disease can lead to complete ossification of the muscular system and was first described in 1648 by Guy Patin as "stone man"(6, 7). Trauma to a region of the body may precede the development of a painful inflammatory mass which eventually calcifies.

Are you born with FOP disease?

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.

Is FOP more common in males or females?

In FOP, the prevalence of neuropathic pain diagnosed by a physician was markedly greater than that reported for the general population [9], and in this study of those with FOP, this symptom was reported almost exclusively by females (Table 1).

How does FOP progress?

A - The extra bone in FOP forms by a progressive transformation of soft tissue into cartilage and bone. This is the same process by which bone regenerates (heals) after a fracture (break) occurs and is nearly identical to the process by which bone forms normally in an embryo.