Fibrodysplasia ossificans progressiva: Basic understanding and experimental models

Qi, Zijuan; Luan, Jing; Zhou, Xiaoyan; Cui, Yazhou; Han, Jinxiang

doi:10.5582/irdr.2017.01055

Cited by 28 publications

(45 citation statements)

References 52 publications

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“…•NSAIDs can be started after discontinuation of corticosteroids. (Qi et al, 2017, Kaplan et al, 2019 Celecoxib Specifically inhibits COX-2 to preserve the housekeeping functions of COX-1.…”

Section: Debilitating Effectsmentioning

confidence: 99%

“…•Should be used with caution in patients with cardiovascular or renal dysfunctions. (Qi et al, 2017, Kaplan et al, 2019 Class 2 Approved for other indications but with theoretical application to FOP Leucotriene receptor antagonist (LRA)…”

Section: Debilitating Effectsmentioning

confidence: 99%

“…Atypical features In addition to the two classical signs (hallux valgus and macrodactyly), some FOP patients present with one or more atypical signs and are categorised as FOP-plus. These atypical signs include tibial osteochondromas ( Box 1 ), spinal malformations and broad femoral neck, which are usually reported among patients with R206H and Q207E missense mutations, and thumb malformations, cognitive impairment and diffuse scalp thinning, which are reported among patients with other atypical missense mutations in ACVR1 ( Qi et al, 2017 ). Several recent reports have also documented delayed-onset HO and absence of characteristic great toe malformations among patients with atypical mutations, who are thus categorised as FOP variants ( Jiao et al, 2013 ).…”

Section: Diagnosis and Managementmentioning

confidence: 99%

“…Amongst all these disorders, FOP is the most extensively studied. It is extremely rare, affecting 1 in 2,000,000 people (Baujat et al, 2017), has no ethnic predilection and is described as the most catastrophic among HO disorders in humans (Miao et al, 2012;Qi et al, 2017;Kaplan et al, 2008). Because it is so uncommon, FOP is frequently misdiagnosed during its initial stages and patients often experience a long gap between the onset of symptoms and ultimate diagnosis.…”

Section: Introductionmentioning

confidence: 99%

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Fibrodysplasia ossificans progressiva: current concepts from bench to bedside

Kaliya-Perumal

Carney

Ingham

2020

Disease Models &Amp; Mechanisms

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Heterotopic ossification (HO) is a disorder characterised by the formation of ectopic bone in soft tissue. Acquired HO typically occurs in response to trauma and is relatively common, yet its aetiology remains poorly understood. Genetic forms, by contrast, are very rare, but provide insights into the mechanisms of HO pathobiology. Fibrodysplasia ossificans progressiva (FOP) is the most debilitating form of HO. All patients reported to date carry heterozygous gain-of-function mutations in the gene encoding activin A receptor type I (ACVR1). These mutations cause dysregulated bone morphogenetic protein (BMP) signalling, leading to HO at extraskeletal sites including, but not limited to, muscles, ligaments, tendons and fascia. Ever since the identification of the causative gene, developing a cure for FOP has been a focus of investigation, and studies have decoded the pathophysiology at the molecular and cellular levels, and explored novel management strategies. Based on the established role of BMP signalling throughout HO in FOP, therapeutic modalities that target multiple levels of the signalling cascade have been designed, and some drugs have entered clinical trials, holding out hope of a cure. A potential role of other signalling pathways that could influence the dysregulated BMP signalling and present alternative therapeutic targets remains a matter of debate. Here, we review the recent FOP literature, including pathophysiology, clinical aspects, animal models and current management strategies. We also consider how this research can inform our understanding of other types of HO and highlight some of the remaining knowledge gaps.

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Section: Debilitating Effectsmentioning

confidence: 99%

Section: Debilitating Effectsmentioning

confidence: 99%

Section: Diagnosis and Managementmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Fibrodysplasia ossificans progressiva: current concepts from bench to bedside

Kaliya-Perumal

Carney

Ingham

2020

Disease Models &Amp; Mechanisms

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“…Gradually, there occurs restriction of motion at various joints, severely limiting the activities of daily living and the quality of life of these patients by the third decade of life. There is no definite cure available for the disease and the current treatment options target symptomatic and palliative management [ 5 ]. We describe the case of a 10-year-old child with a severe disability of upper limbs due to joint contractures along with several bony masses at different locations of the body, without complaints of painful soft tissue lesions or flare-ups of the disease ever despite repeated questioning regarding episodes.…”

Section: Introductionmentioning

confidence: 99%

Atypical Presentation of Fibrodysplasia Ossificans Progressiva: A Case Report and Review of Literature

Tiwari

Behera

Sarawagi

et al. 2018

Cureus

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Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by widespread areas of abnormal bone formation in muscles, ligaments, tendons and joint capsules. Typically, the symptoms begin in the first decade of life with episodes of painful inflammatory soft tissue swellings. Gradually, there occurs restriction of motion at various joints, severely limiting the activities of daily living and the quality of life of such patients by the third decade of life. There is no definite cure available for the disease and the current treatment options target symptomatic and palliative management. We describe the case of a 10-year-old child who presented to our institute with a severe disability of upper limbs due to joint contractures along with several bony masses at various locations of the body but without having any prior complaints of painful soft tissue lesions or the characteristic flare-ups of the disease ever. Identification of typical soft tissue ossified masses in the specific anatomic pattern, along with the presence of short and malformed great toes helped us in reaching the diagnosis. Surgical procedures including biopsies should be strictly avoided in such patients to prevent triggering the development of more lesions, which occurred in our patient after inadvertent removal of the first swelling by an orthopaedic specialist.

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A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene

Cappato

Traberg

Gintautienė

et al. 2021

Molec Gen & Gen Med

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Fibrodysplasia Ossificans Progressiva (FOP; OMIM #135100) is an extremely rare autosomal dominant disease in which heterotopic bone forms in muscle and soft tissue, leading to joint dysfunction and severe disability. The incidence of FOP is 1 of 2 million and there is no regional, racial, or sexual predisposition (Baujat et al., 2017;Qi et al., 2017).Classical presentation of FOP is characterized by a specific, congenital big toe malformation (hallux valgus deformity) and apparently spontaneous occurring of acute phases of the disease called flare-ups, with inflammatory soft tissue

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Fibrodysplasia ossificans progressiva: Basic understanding and experimental models

Cited by 28 publications

References 52 publications

Fibrodysplasia ossificans progressiva: current concepts from bench to bedside

Fibrodysplasia ossificans progressiva: current concepts from bench to bedside

Atypical Presentation of Fibrodysplasia Ossificans Progressiva: A Case Report and Review of Literature

A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene

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