Pain, Physical and Social Functioning, and Quality of Life in Individuals with Multiple Hereditary Exostoses in the Netherlands

Goud, Annemarie L.; Lange, J. de; Scholtes, V. A. B.; Bulstra, Sjoerd K.; Ham, S.J.

doi:10.2106/jbjs.k.00406

Cited by 71 publications

(90 citation statements)

References 16 publications

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“…Pedrini et al [11] did not specify the age of their cohort but proposed a classification scheme based on skeletal deformity and functional limitation that included patients in childhood, preadolescence, adolescence, and skeletal maturity. Goud et al [4] reported a cohort with a median age of 29.1 years (range, 1-80 years) that closely mirrors the median age of respondents in our study, which is 28.7 years (range, \ 1-85 years).Thus we believe our survey population is a worthy cross section of patients with multiple hereditary exostoses. Goud et al [4] reported that beyond the effects of pain, multiple hereditary exostoses often causes limitations in patient employment, physical activities (especially sports), and activities of daily living, thereby more comprehensively quantifying the burden of disease.…”

Section: Discussionsupporting

confidence: 76%

“…Pedrini et al [11] had a study population that consisted of 50.7% males and 49.3% females while Goud et al [4] had a study population of 45% males and 55% females [4,11]. Our study population included 56% females and 44% males.…”

Section: Discussionmentioning

confidence: 98%

“…Perhaps the most important complication of the benign lesions that are the hallmark of multiple hereditary exostoses is their malignant transformation to chondrosarcoma. Numerous studies have reported proportions from less than 1% to 25% for malignant degeneration of a benign exostosis to chondrosarcoma in patients who have multiple hereditary exostoses [3,4,[7][8][9][11][12][13][14]. In general, malignant transformation is rare and the true incidence has (1), and South Korea (1).…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies have shown a wide range in the numbers of patients with multiple hereditary exostoses who have had malignant change to chondrosarcoma, and these studies [3,7,8,[12][13][14] cite proportions derived from smaller population clusters in seemingly isolated geographic areas. Historically, reported proportions of transformation have ranged from less than 1% to approximately 25% [3,4,[7][8][9][11][12][13][14]. Some of the larger studies we are aware of include rates of 4.9% in 529 patients [11], 0.38% in 526 patients [8], and 7% in 184 patients [4].…”

Section: Introductionmentioning

confidence: 99%

“…Historically, reported proportions of transformation have ranged from less than 1% to approximately 25% [3,4,[7][8][9][11][12][13][14]. Some of the larger studies we are aware of include rates of 4.9% in 529 patients [11], 0.38% in 526 patients [8], and 7% in 184 patients [4]. Pedrini et al [11] presented the largest cohort to date in their genotype-phenotype correlation study of 529 patients with multiple hereditary exostoses.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration?

Czajka

DiCaprio

2015

Clinical Orthopaedics &Amp; Related Research

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Background Multiple hereditary exostoses is an autosomal-dominant skeletal disorder that has a wide-ranging reported risk of malignant degeneration to chondrosarcoma. Questions/purposes The aims of our study were to use a large, web-based survey approach to characterize (1) the demographic distribution of patients with multiple hereditary exostoses, (2) the number of surgeries performed related to one's diagnosis of multiple hereditary exostoses, and (3) the proportion of survey respondents who described experiencing malignant degeneration in a large international, heterogeneous cohort of patients with multiple hereditary exostoses. Methods An anonymous web-based survey was distributed to several online support groups and social media networks designed to support and educate patients with multiple hereditary exostoses and their families. The survey collected demographic and epidemiologic data on 779 respondents. Data were recorded to assess respondents' disease burden and the rate of malignant degeneration.

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Section: Discussionsupporting

confidence: 76%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration?

Czajka

DiCaprio

2015

Clinical Orthopaedics &Amp; Related Research

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Heparan sulfate in skeletal development, growth, and pathology: The case of hereditary multiple exostoses

Huegel

Sgariglia

Enomoto‐Iwamoto

et al. 2013

Developmental Dynamics

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Heparan sulfate (HS) is an essential component of cell surface and matrix-associated proteoglycans (HSPGs). Due to their sulfation patterns, the HS chains interact with numerous signaling proteins and regulate their distribution and activity on target cells. Many of these proteins, including bone morphogenetic protein family members, are expressed in the growth plate of developing skeletal elements, and several skeletal phenotypes are caused by mutations in HS-synthesizing and modifying enzymes. The disease we discuss here is Hereditary Multiple Exostoses (HME), a disorder caused by mutations in HS synthesizing enzymes EXT1 and EXT2, leading to HS deficiency. The exostoses are benign cartilaginous-bony outgrowths, form next to growth plates, can cause growth retardation and deformities, chronic pain and impaired motion, and progress to malignancy in 2-5% of patients. We describe recent advancements on HME pathogenesis and exostosis formation deriving from studies that have determined distribution, activities and roles of signaling proteins in wild type and HS-deficient cells and tissues. Aberrant distribution of signaling factors combined with aberrant responsiveness of target cells to those same factors appear to be a major culprit in exostosis formation. Insights from these studies suggest plausible and cogent ideas about how HME could be treated in the future.

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Insights into the molecular regulatory network of pathomechanisms in osteochondroma

Yang

Zhang

Lin

et al. 2019

J of Cellular Biochemistry

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Osteochondroma is a benign autosomal dominant hereditary disease characterized by abnormal proliferation of cartilage in the long bone. It is divided into solitary osteochondroma and hereditary multiple exostoses (HMEs). The exostosin‐1 (EXT‐1) and exostosin‐2 (EXT‐2) gene mutations are well‐defined molecular mechanisms in the pathogenesis of HME. EXT‐1 and EXT‐2 encode glycosyltransferases that are necessary for the synthesis of heparin sulfate. Accumulating evidence suggests that mutations in the EXT family induce changes in isolated hypogonadotropic hypogonadism‐parathyroid hormone‐related protein, bone morphogenetic protein, and fibroblast growth factor signaling pathways. Studies have also found that a large number of microRNAs (miRNAs) are abnormally expressed in osteochondroma tissues, and some of them also participate in several major signaling pathways. The regulation of miRNA expression could be another breakthrough in the treatment of osteochondroma. Although the pathogenesis of osteochondroma is very complicated, significant progress has been made in recent years. It is hoped that the pathogenesis of osteochondroma will be clearly understood and the most effective methods for the prevention and treatment of osteochondroma will be determined. This review provides an update on the recent progress in the interpretation of the underlying molecular mechanisms of osteochondroma.

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Pain, Physical and Social Functioning, and Quality of Life in Individuals with Multiple Hereditary Exostoses in the Netherlands

Abstract: Background: This study aimed to assess pain and quality of life in a large cohort of patients with multiple hereditary exostoses.

Cited by 71 publications

References 16 publications

What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration?

What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration?

Heparan sulfate in skeletal development, growth, and pathology: The case of hereditary multiple exostoses

Insights into the molecular regulatory network of pathomechanisms in osteochondroma

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