Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone Center

Eekhoff, Elisabeth M. W.; Micha, Dimitra; Forouzanfar, Tymour; Vries, Teun J. de; Netelenbos, J.C.; Klein‐Nulend, Jenneke; Loon, Jack J. W. A. van; Lubbers, Wouter D.; Schwarte, Lothar A.; Schober, Patrick; Raijmakers, Pieter; Teunissen, Bernd P.; Graaf, Pim de; Lammertsma, Adriaan A.; Yaqub, Maqsood; Botman, Esmée; Treurniet, Sanne; Smilde, Bernard J.; Bökenkamp, Arend; Boonstra, Anco; Kamp, Otto; Nieuwenhuijzen, Jakko A.; Visser, Marieke C.; Baayen, Hans J. C.; Dahele, Max; Eeckhout, Guus A. M.; Goderie, Thadé; Smits, Cas; Gilijamse, Marjolijn; Karagozoglu, K.H.; Valk, Paul van de; Dickhoff, Chris; Moll, Annette C.; Verbraak, Frank F. D.; Curro-Tafili, Katie K. R.; Ghyczy, Ebba A. E.; Rustemeyer, Thomas; Saeed, Peeroz; Maugeri, Alessandra; Pals, Gerard; Ridwan-Pramana, Angela; Pekel, Esther; Schoenmaker, Ton; Lems, Willem; Winters, H.A.H.; Botman, Matthijs; Giannakópoulos, Georgios F.; Koolwijk, Peter; Janssen, Jeroen; Kloen, Peter; Bravenboer, Nathalie; Smit, Jan Maerten; Helder, Marco N.

doi:10.3389/fendo.2020.00481

Cited by 4 publications

(2 citation statements)

References 24 publications

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“…Medical management and treatment of individuals with FOP is complex, requires specific care and is therefore usually performed in ultra-specialised centres in which physicians from different disciplines with FOP-specific knowledge are able to coordinate treatment. 29 Although the amount of knowledge and scientific publications about FOP has increased significantly in the last years, many of the current treatment recommendations are still based on expert opinion rather than conclusive evidence.…”

Section: Current Management and Treatmentmentioning

confidence: 99%

Monitoring and Management of Fibrodysplasia Ossificans Progressiva: Current Perspectives

Smilde¹,

Botman²,

Ruiter³

et al. 2022

ORR

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Fibrodysplasia ossificans progressiva (FOP), sometimes known as myositis ossificans progressiva, is an ultra-rare disease in which bone is formed in muscular tissue, tendons and ligaments. This is known as heterotopic ossification (HO). FOP is caused by a heterozygous mutation in the highly conserved ACVR1/ALK2 gene which affects about 1 in 1.5–2 million individuals. At birth, patients with the predominant R206H mutation only exhibit a bilateral hallux valgus. During childhood, heterotopic bone formation develops in a typical pattern, affecting the axial muscles first before appendicular body parts are involved. HO can start spontaneously but is often elicited by soft tissue trauma or medical procedures. After soft tissue injury, an inflammatory process called a flare-up can start, followed by the formation of HO. HO leads to a limited range of motion, culminating in complete ankylosis of nearly all joints. As a result of HO surrounding the thorax, patients often suffer from thoracic insufficiency syndrome (TIS). TIS is the most common cause of a limited life expectancy for FOP patients, with a median life expectancy of 56 years. Management is focused on preventing soft-tissue injury that can provoke flare-ups. This includes prevention of iatrogenic damage by biopsies, intramuscular injections and surgery. Anti-inflammatory medication is often started when a flare-up occurs but has a poor basis of evidence. Several forms of potential treatment for FOP are being researched in clinical trials. Progression of the disease is monitored using CT and 18F-NaF PET/CT combined with functional assessments. Patients are regularly evaluated for frequently occurring complications such as restrictive lung disease. Here, we review the current management, monitoring and treatment of FOP.

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Section: Current Management and Treatmentmentioning

confidence: 99%

Monitoring and Management of Fibrodysplasia Ossificans Progressiva: Current Perspectives

Smilde¹,

Botman²,

Ruiter³

et al. 2022

ORR

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“…To prevent serious respiratory complications in OI patients, difficulties in breathing and respiratory infections should be treated immediately, and patients should be regularly vaccinated against influenza. Our recommendation also includes monitoring of the patients by a multidisciplinary team, including a pulmonologist and cardiologist [ 44 ].…”

Section: Discussionmentioning

confidence: 99%

Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review

Storoni

Treurniet

Micha³

et al. 2021

Annals of Medicine

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Introduction Respiratory failure is a major cause of death in patients with Osteogenesis Imperfecta. Moreover, respiratory symptoms seem to have a dramatic impact on their quality of life. It has long been thought that lung function disorders in OI are mainly due to changes in the thoracic wall, caused by bone deformities. However, recent studies indicate that alterations in the lung itself can also undermine respiratory health. Objectives Is there any intrapulmonary alteration in Osteogenesis Imperfecta that can explain decreased pulmonary function? The aim of this systematic literature review is to investigate to what extent intrapulmonary or extrapulmonary thoracic changes contribute to respiratory dysfunction in Osteogenesis Imperfecta. Methods A literature search (in PubMed, Embase, Web of Science, and Cochrane), which included articles from inception to December 2020, was performed in accordance with the PRISMA guidelines. Results Pulmonary function disorders have been described in many studies as secondary to scoliosis or to thoracic skeletal deformities. The findings of this systematic review suggest that reduced pulmonary function can also be caused by a primary pulmonary problem due to intrinsic collagen alterations. Conclusions Based on the most recent studies, the review indicates that pulmonary defects may be a consequence of abnormal collagen type I distorting the intrapulmonary structure of the lung. Lung function deteriorates further when intrapulmonary defects are combined with severe thoracic abnormalities. This systematic review reveals novel findings of the underlying pathological mechanism which have clinical and diagnostic implications for the assessment and treatment of pulmonary function disorders in Osteogenesis Imperfecta. KEY MESSAGES Decreased pulmonary function in Osteogenesis Imperfecta can be attributed to primary pulmonary defects due to intrapulmonary collagen alterations and not solely to secondary problems arising from thoracic skeletal dysplasia. Type I collagen defects play a crucial role in the development of the lung parenchyma and defects, therefore, affect pulmonary function. More awareness is needed among physicians about pulmonary complications in Osteogenesis Imperfecta to develop novel concepts on clinical and diagnostic assessment of pulmonary functional disorders.

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Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta

Celli,

Garrelfs,

Sakkers

et al. 2024

Calcif Tissue Int

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Osteogenesis Imperfecta (OI), known as “brittle bone disease,” presents a rare genetic disorder characterized by bone fragility, often accompanied by skeletal deformities and extraskeletal complications. OI is primarily associated with collagen type I defects, responsible for the syndromic nature of the disease affecting a broad range of tissues. As such, its multisystemic complexity necessitates multidisciplinary care approaches in all patient life stages. OI treatment remains largely supportive, commonly including bisphosphonates and orthopedic surgeries, which show promise in children. Although rehabilitation programs for children exist, guidelines for adult care and especially the transition from pediatric to adult care, are lagging behind in OI care and research. The current systematic review summarizes the literature on OI patient pediatric to adult care transition experiences and compares OI transition approaches to other chronic diseases. The review was performed based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Systematic searches were conducted across multiple databases. Search terms encompassed synonyms and closely related phrases relevant to “OI” and “Transition to adult care”. The initial screening involved the evaluation of article titles, followed by a thorough review of abstracts to assess relevance for the purpose of the current review. Programs aimed at easing the transition from pediatric to adult OI care necessitate a multifaceted approach. Collaborative efforts between different medical disciplines including pediatricians, endocrinologists, orthopedics, cardiology, pulmonology, ophthalmology, otolaryngologists, maxillofacial specialists, psychologists and medical genetics, are crucial for addressing the diverse needs of OI patients during this critical life phase. Comprehensive education, readiness assessments, personalized transition plans, and further follow-up are essential components of a structured transition framework. Further research is warranted to evaluate the feasibility and efficacy of sequential stepwise transition systems tailored to individuals with OI.

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Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone Center

Cited by 4 publications

References 24 publications

Monitoring and Management of Fibrodysplasia Ossificans Progressiva: Current Perspectives

Monitoring and Management of Fibrodysplasia Ossificans Progressiva: Current Perspectives

Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review

Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta

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