Imaging assessment of fibrodysplasia ossificans progressiva: Qualitative, quantitative and questionable (2023)

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare autosomal dominant genetic disorder of heterotopic ossification (HO) characterized by skeletal anomalies and episodic soft tissue swelling (flare-ups) that can transform into heterotopic bone. The progressive development of heterotopic bone and progressive arthropathy leads to significant limitation of mobility. This paper will review various imaging modalities used in evaluating episodic soft tissue swelling (flare-ups), heterotopic bone and skeletal anomalies. Different imaging modalities are required at different stages of the disease. Ultrasound and MRI can be useful for evaluating edema in early stages of a flare-up; MRI being superior to ultrasonography. Plain radiographs and computed tomography (CT) can evaluate heterotopic bone in later stages of HO, but CT scan is better at evaluating presence and the volume of heterotopic bone. Functional imaging demonstrates increased activity at sites of flare-ups, their utility in determining disease progression need to be further evaluated. Cost, radiation exposure, availability of various imaging modalities and the ability of FOP patients to fit in the scanner are all considerations when requesting radiographic tests in a patient with FOP. Future studies are required to determine if early radiographic findings can determine disease progression and response to treatment in this disorder.

Original languageEnglish (US)
Pages (from-to)147-152
Number of pages6
JournalBone
Volume109
DOIs
StatePublished - Apr 2018

Keywords

  • ACVR1
  • Bone morphogenetic protein
  • Computed tomography
  • Fibrodysplasia ossificans progressiva (FOP)
  • Heterotopic ossification
  • Magnetic resonance imaging
  • Soft tissue edema

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Physiology
  • Histology

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Al Mukaddam, M., Rajapakse, C. S., Pignolo, R. J., Kaplan, F. S., & Smith, S. E. (2018). Imaging assessment of fibrodysplasia ossificans progressiva: Qualitative, quantitative and questionable. Bone, 109, 147-152. https://doi.org/10.1016/j.bone.2017.08.011

Imaging assessment of fibrodysplasia ossificans progressiva : Qualitative, quantitative and questionable. / Al Mukaddam, Mona; Rajapakse, Chamith S.; Pignolo, Robert J. et al.

In: Bone, Vol. 109, 04.2018, p. 147-152.

Research output: Contribution to journalArticlepeer-review

Al Mukaddam, M, Rajapakse, CS, Pignolo, RJ, Kaplan, FS & Smith, SE 2018, 'Imaging assessment of fibrodysplasia ossificans progressiva: Qualitative, quantitative and questionable', Bone, vol. 109, pp. 147-152. https://doi.org/10.1016/j.bone.2017.08.011

Al Mukaddam M, Rajapakse CS, Pignolo RJ, Kaplan FS, Smith SE. Imaging assessment of fibrodysplasia ossificans progressiva: Qualitative, quantitative and questionable. Bone. 2018 Apr;109:147-152. https://doi.org/10.1016/j.bone.2017.08.011

Al Mukaddam, Mona ; Rajapakse, Chamith S. ; Pignolo, Robert J. et al. / Imaging assessment of fibrodysplasia ossificans progressiva : Qualitative, quantitative and questionable. In: Bone. 2018 ; Vol. 109. pp. 147-152.

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abstract = "Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare autosomal dominant genetic disorder of heterotopic ossification (HO) characterized by skeletal anomalies and episodic soft tissue swelling (flare-ups) that can transform into heterotopic bone. The progressive development of heterotopic bone and progressive arthropathy leads to significant limitation of mobility. This paper will review various imaging modalities used in evaluating episodic soft tissue swelling (flare-ups), heterotopic bone and skeletal anomalies. Different imaging modalities are required at different stages of the disease. Ultrasound and MRI can be useful for evaluating edema in early stages of a flare-up; MRI being superior to ultrasonography. Plain radiographs and computed tomography (CT) can evaluate heterotopic bone in later stages of HO, but CT scan is better at evaluating presence and the volume of heterotopic bone. Functional imaging demonstrates increased activity at sites of flare-ups, their utility in determining disease progression need to be further evaluated. Cost, radiation exposure, availability of various imaging modalities and the ability of FOP patients to fit in the scanner are all considerations when requesting radiographic tests in a patient with FOP. Future studies are required to determine if early radiographic findings can determine disease progression and response to treatment in this disorder.",

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AB - Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare autosomal dominant genetic disorder of heterotopic ossification (HO) characterized by skeletal anomalies and episodic soft tissue swelling (flare-ups) that can transform into heterotopic bone. The progressive development of heterotopic bone and progressive arthropathy leads to significant limitation of mobility. This paper will review various imaging modalities used in evaluating episodic soft tissue swelling (flare-ups), heterotopic bone and skeletal anomalies. Different imaging modalities are required at different stages of the disease. Ultrasound and MRI can be useful for evaluating edema in early stages of a flare-up; MRI being superior to ultrasonography. Plain radiographs and computed tomography (CT) can evaluate heterotopic bone in later stages of HO, but CT scan is better at evaluating presence and the volume of heterotopic bone. Functional imaging demonstrates increased activity at sites of flare-ups, their utility in determining disease progression need to be further evaluated. Cost, radiation exposure, availability of various imaging modalities and the ability of FOP patients to fit in the scanner are all considerations when requesting radiographic tests in a patient with FOP. Future studies are required to determine if early radiographic findings can determine disease progression and response to treatment in this disorder.

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FAQs

How is fibrodysplasia ossificans progressiva diagnosed? ›

Diagnosis. In most cases, an accurate diagnosis of fibrodysplasia ossificans progressiva (FOP) can be made based on a patient's characteristic malformation of the big toe, in addition to rapidly changing swellings on the head, neck or back.

What are some early signs and symptoms of FOP? ›

Symptoms of FOP include:
  • malformations of the big toe.
  • spontaneous flare-ups of inflammation or soft tissue swelling.
  • increased flare-ups after injury, viral illness, or immunizations.
  • difficulty moving.
  • frequent injury due to falling.
3 Feb 2017

What is the prognosis for someone who suffers from FOP? ›

Prognosis. The prognosis for fibrodysplasia ossificans progressiva (FOP) is poor because of the involvement of thoracic muscles and restrictive lung disease. Most FOP patients are bedridden by the time they are in their 30s, and they usually die before they reach 40 years of age.

What are the characteristics of FOP? ›

People with fibrodysplasia ossificans progressiva are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have short thumbs and other skeletal abnormalities.

When is FOP disease diagnosed? ›

Although some children with FOP develop soft tissue lesions in the first year of life, most children begin to develop these rapidly growing connective tissue lesions (or flare-ups) between 2 and 5 years of age.

What is the most common cause of FOP? ›

Most cases of FOP occur as the result of a sporadic new mutation and the genetic mutation that results in this disorder has been identified.

Can you get FOP at any age? ›

The HO in FOP normally presents between birth and 26 years of age, with presentation in the first decade being the most common. There are a few case reports of patients presenting with FOP in their late forties, but age 54 is the oldest presentation reported in the literature to date [9].

What is the treatment 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.

Which other diseases can FOP be mistaken for? ›

The specific pathogenesis of FOP is not yet clear, and the early phenotype of the disease is easily confused with other diseases, including tumors, fibromas, and bursitis, resulting in its misdiagnosis (8).

Is FOP disease fatal? ›

In the end, though, FOP is fatal. One common cause of death is cardiorespiratory failure, as the heart and lungs eventually can't function within a constrictive armor of bone. The average lifespan for FOP patients is 56 years.

Is FOP disease hereditary? ›

FOP is almost always caused by a genetic change at the same place in the ACVR1 gene and is inherited in an autosomal dominant manner. This condition occurs in about 1 in 1,600,000 newborns and about 800 people worldwide are known to have FOP.

Is fibrodysplasia ossificans progressiva fatal? ›

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

What is the rare disease FOP? ›

January 14, 2022. PHILADELPHIA— Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by extensive bone growth outside of the normal skeleton that pre-empts the body's normal responses to even minor injuries.

How many people are affected by FOP? ›

About 800 people are affected by the disease worldwide, and most of them are known to the researchers at Penn Medicine, who have spearheaded FOP research.

Is there a cure for Stone Man Syndrome? ›

FOP is a rare and disabling disorder that still does not have an effective treatment that can cure it or stop its progression. Mainly, physicians, surgeons, and patients and their families should be educated about the disease, and proper counseling of families should be provided.

What are risk factors for FOP? ›

There are no known risk factors. FOP is caused by mutations in the ACVR1/ALK2 gene on chromosome 2q24, which encodes activin A receptor type I/activin-like kinase 2, a bone morphogenetic protein type I receptor [2].

Is FOP disease painful? ›

Introduction. Fibrodysplasia ossificans progressiva (FOP) is a rare disorder characterized by episodes of acute pain and heterotopic ossification of soft tissue, and progressively limited physical function and social participation.

Which condition causes a progressive loss of bone tissue? ›

Osteoporosis is a condition characterized by progressive loss of bone density, thinning of bone tissue and increased vulnerability to fractures. Osteoporosis may result from disease, dietary or hormonal deficiency or advanced age.

Which other diseases can FOP be mistaken for? ›

The specific pathogenesis of FOP is not yet clear, and the early phenotype of the disease is easily confused with other diseases, including tumors, fibromas, and bursitis, resulting in its misdiagnosis (8).

Can you get FOP at any age? ›

The HO in FOP normally presents between birth and 26 years of age, with presentation in the first decade being the most common. There are a few case reports of patients presenting with FOP in their late forties, but age 54 is the oldest presentation reported in the literature to date [9].

Can people with FOP have kids? ›

Pregnancy is a rare event in FOP; however, it is possible for a woman with FOP to carry a child owing to the absence of smooth muscle involvement in this condition, and at least five known instances of childbirth have been reported in the medical literature, including two in this report.

Can you survive FOP? ›

In the end, though, FOP is fatal. One common cause of death is cardiorespiratory failure, as the heart and lungs eventually can't function within a constrictive armor of bone. The average lifespan for FOP patients is 56 years.

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