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Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks.

ABSTRACT: Fibrodysplasia ossificans progressiva (FOP) is an ultrarare condition and one of the most impactful disorders associated with progressive heterotopic ossification events. It is estimated that there are 120-150 patients in Brazil; however, currently, fewer than 100 patients have been identified, and the role of a FOP advocacy group (FOP Brazil) has been instrumental for the identification and follow-up of these individuals and families. The aim of this article is to summarize the current status of FOP in Brazil and describe strategies proposed to approach this challenge in a continental size country.

SUBMITTER: Zorzi AR

PROVIDER: S-EPMC9450346 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature

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Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks.

Zorzi Alessandro Rozim AR Delai Patricia R PR Rosa Henrique L C HLC Brito Wander E WE Montalli Victor A M VAM Napimoga Juliana C JC Napimoga Marcelo H MH Nociti Francisco H FH

Orphanet journal of rare diseases 20220907 1

Fibrodysplasia ossificans progressiva (FOP) is an ultrarare condition and one of the most impactful disorders associated with progressive heterotopic ossification events. It is estimated that there are 120-150 patients in Brazil; however, currently, fewer than 100 patients have been identified, and the role of a FOP advocacy group (FOP Brazil) has been instrumental for the identification and follow-up of these individuals and families. The aim of this article is to summarize the current status o ...[more]

PMID: 36071499

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Project description:Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. The worldwide prevalence is approximately 1/2,000,000. There is no ethnic, racial, gender, or geographic predilection to FOP. Children who have FOP appear normal at birth except for congenital malformations of the great toes. During the first decade of life, sporadic episodes of painful soft tissue swellings (flare-ups) occur which are often precipitated by soft tissue injury, intramuscular injections, viral infection, muscular stretching, falls or fatigue. These flare-ups transform skeletal muscles, tendons, ligaments, fascia, and aponeuroses into heterotopic bone, rendering movement impossible. Patients with atypical forms of FOP have been described. They either present with the classic features of FOP plus one or more atypical features [FOP plus], or present with major variations in one or both of the two classic defining features of FOP [FOP variants]. Classic FOP is caused by a recurrent activating mutation (617G>A; R206H) in the gene ACVR1/ALK2 encoding Activin A receptor type I/Activin-like kinase 2, a bone morphogenetic protein (BMP) type I receptor. Atypical FOP patients also have heterozygous ACVR1 missense mutations in conserved amino acids. The diagnosis of FOP is made by clinical evaluation. Confirmatory genetic testing is available. Differential diagnosis includes progressive osseous heteroplasia, osteosarcoma, lymphedema, soft tissue sarcoma, desmoid tumors, aggressive juvenile fibromatosis, and non-hereditary (acquired) heterotopic ossification. Although most cases of FOP are sporadic (noninherited mutations), a small number of inherited FOP cases show germline transmission in an autosomal dominant pattern. At present, there is no definitive treatment, but a brief 4-day course of high-dose corticosteroids, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue edema seen in the early stages of the disease. Preventative management is based on prophylactic measures against falls, respiratory decline, and viral infections. The median lifespan is approximately 40 years of age. Most patients are wheelchair-bound by the end of the second decade of life and commonly die of complications of thoracic insufficiency syndrome.

Dataset Information

Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks.

Publications

Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks.

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