A Twin Study of Perthes Disease

Metcalfe, David; Dijck, Stephanie van; Parsons, Nicholas R.; Christensen, Kaare; Perry, Daniel C.

doi:10.1542/peds.2015-3542

Cited by 20 publications

(15 citation statements)

References 34 publications

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“…A similarly high degree of heritability was found in an experimental pedigree of Manchester Terriers 143 . Further genetic studies have been described in both dogs and humans, with intriguing differences and similarities [144][145][146][147][148] , discussion of which is beyond the scope of this Review.…”

Section: Legg-calvé-perthes Diseasementioning

confidence: 99%

Spontaneous dog osteoarthritis — a One Medicine vision

et al. 2019

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| Osteoarthritis (OA) is a global disease that, despite extensive research, has limited treatment options. Pet dogs share both an environment and lifestyle attributes with their owners, and a growing awareness is developing in the public and among researchers that One Medicine, the mutual co-study of animals and humans, could be beneficial for both humans and dogs. To that end, this Review highlights research opportunities afforded by studying dogs with spontaneous OA , with a view to sharing this active area of veterinary research with new audiences. Similarities and differences between dog and human OA are examined, and the proposition is made that suitably aligned studies of spontaneous OA in dogs and humans, in particular hip and knee OA , could highlight new avenues of discovery. Developing cross-species collaborations will provide a wealth of research material and knowledge that is relevant to human OA and that cannot currently be obtained from rodent models or experimentally induced dog models of OA. Ultimately , this Review aims to raise awareness of spontaneous dog OA and to stimulate discussion regarding its exploration under the One Medicine initiative to improve the health and well-being of both species.

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Section: Legg-calvé-perthes Diseasementioning

confidence: 99%

Spontaneous dog osteoarthritis — a One Medicine vision

et al. 2019

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“…Metcalfe et al[27] reported an increased presence of low birth weight in children affected by LCPD. Similar to the results provided by Lappin et al[28], Sharma et al[18] reported an association between low birth weight and LCPD, whereas the weight of the children at the moment of the diagnosis and follow up did not show significant alteration.…”

Section: Resultsmentioning

confidence: 99%

“…Metcalfe et al[27] investigated the presence of genetic factors using the information derived from the Danish Twin Registry. After studying concordance with LCPD in 81 twin pairs (10 monozygotic, 51 dizygotic and 20 unclassified), they concluded that the absolute risk that a co-twin of an affected individual will develop LCPD is low, even in the case of monozygotic twin pairs.…”

Section: Resultsmentioning

confidence: 99%

“…After studying concordance with LCPD in 81 twin pairs (10 monozygotic, 51 dizygotic and 20 unclassified), they concluded that the absolute risk that a co-twin of an affected individual will develop LCPD is low, even in the case of monozygotic twin pairs. While Metcalfe et al[27] did not find an association between LCPD and birth weight, another twin study[28] and a case control study[17] involving an overall of 320 twin patients and 852 patients, respectively, concluded that low birth weight may play a role in developing the disease.…”

Section: Resultsmentioning

confidence: 99%

“…While the reviewed literature provided evidence of cases of LCPD running in families[41-46], and epidemiological studies suggested a genetic role[29], twin studies[27,28] reported no significant concordance. This was further investigated by another recent study[48] involving 37 patients and 100 controls that reported no difference in genotype variants and expression of coagulation and inflammatory factors.…”

Section: Discussionmentioning

confidence: 99%

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Aetiology of Legg-Calvé-Perthes disease: A systematic review

Pavone

Chisari

Vescio

et al. 2019

WJO

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BACKGROUNDLegg-Calvé-Perthes disease (LCPD) is a clinical condition affecting the femoral head of children during their growth. Its prevalence is set to be between 0.4/100000 to 29.0/100000 children less than 15 years of age with a peak of incidence in children aged from 4 years to 8 years. LCPD aetiology has been widely studied, but it is still poorly understood.AIMTo analyse the available literature to document the up-to-date evidence on LCPD aetiology.METHODSA systematic review of the literature was performed regarding LCPD aetiology, using the following inclusion criteria: studies of any level of evidence, reporting clinical or preclinical results and dealing with the aetiology or pathogenesis of LCPD. Two reviewers searched the PubMed and Science Direct databases from their date of inception to the 20th of May 2018 in accordance with the Preferred Reporting Items for Systemic Reviews and Meta-Analyses guidelines. To achieve the maximum sensitivity of the search strategy, we combined the terms: ‘‘Perthes disease OR LCPD OR children avascular femoral head necrosis” with “pathology OR aetiology OR biomechanics OR genetics” as either key words or MeSH terms.RESULTSWe include 64 articles in this review. The available evidence on LCPD aetiology is still debated. Several hypotheses have been researched, but none of them was found decisive. While emerging evidence showed the role of environmental risk factors and evidence from twin studies did not support a major role for genetic factors, a congenital or acquired predisposition cannot be excluded in disease pathogenesis. One of the most supported theories involved mechanical induced ischemia that evolved into avascular necrosis of the femoral head in sensible patients.CONCLUSIONThe literature available on the aetiology of LCPD presents major limitations in terms of great heterogeneity and a lack of high-profile studies. Although a lot of studies focused on the genetic, biomechanical and radiological background of the disease, there is a lack of consensus on one or multiple major actors of the etiopathogenesis. More studies are needed to understand the complex and multifactorial genesis of the avascular necrosis characterizing the disease.

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Ischemic and Infiltrative Disorders of Bone

Whyte

2018

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism

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A Twin Study of Perthes Disease

Cited by 20 publications

References 34 publications

Spontaneous dog osteoarthritis — a One Medicine vision

Spontaneous dog osteoarthritis — a One Medicine vision

Aetiology of Legg-Calvé-Perthes disease: A systematic review

Ischemic and Infiltrative Disorders of Bone

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