Legg-Calve-Perthes Disease

BackgroundLegg-Calvé-Perthes Disease (LCPD) is a necrosis of the femoral head which affects the range of motion of the hips. Its incidence is variable, ranging from 0.4/100,000 to 29.0/ 100,000 children. Although LCPD was first described in the beginning of the past century, limited is known about its etiology. Our objective is to describe the main areas of interest in Legg-Calve-Perthes disease.MethodsA review of the literature regarding LCPD etiology was performed, considering the following inclusion criteria: Studies reporting clinical or preclinical results. The research group carried out a filtered search on the PubMed and Science Direct databases. To maximize the suitability of the search results, we combined the terms ''Perthes disease" OR "LCPD" OR "children avascular femoral head necrosis" with "diagnostic" OR "treatment" OR "etiology" as either key words or MeSH terms.ResultsIn this article been described some areas of interest in LCPD, we include topics such as: history, incidence, pathogenesis, diagnosis, treatment and possible etiology, since LCPD has an unknown etiology.ConclusionsThis review suggests that LCPD has a multifactorial etiology where environmental, metabolic and genetic agents could be involved.

BackgroundThe prognosis in Perthes' disease varies considerably according to certain risk factors, but there is no concensus regarding the relative importance of these factors. We assessed the natural history of the disease and defined prognostic factors of value in deciding the proper treatment.Patients and methodsDuring the 5-year period 1996-2000, a nationwide study on Perthes' disease was performed in Norway. 425 patients were registered. The present study involved the 212 children (mean age 5.1 years, 77% boys) who were affected unilaterally and who had been treated with physiotherapy only (which is considered not to change the natural history). They were followed by taking radiographs at the time of diagnosis and after 1, 3, and 5 years. At the 5-year follow-up, the outcome was evaluated according to a modification of the Stulberg classification: good (spherical femoral head), fair (ovoid femoral head), and poor (flat femoral head).ResultsThe 5-year radiographic results were strongly dependent on 4 risk factors: age 6 years or more at diagnosis, total femoral head necrosis, height of the lateral pillar of the epiphysis less than 50% of normal height, and femoral head cover less than 80%. As the number of risk factors increased from 0 to 4, the proportion of patients with good radiographic 5-year outcome decreased from 79% to 0% and the proportion with poor outcome increased from 3% to 91%.InterpretationMost children under 6 years of age do not need any special treatment. In older children, no special treatment is indicated if the whole femoral head is not necrotic and the femoral head cover is > 80%. In the most severe forms of the disease (i.e. more than 2 risk factors), surgical containment treatment seems advisable.

BackgroundLegg-Calve-Perthes Disease (LCPD) is an idiopathic osteonecrosis of the developing femoral head complicated by pain and disability of the hip joint. To date, the pathological mechanisms of LCPD are not well-known. This study screened the changes in serum protein expression in patients with LCPD.MethodsAge- and sex-matched serum samples from 10 control subjects and 10 patients with LCPD were compared using the isobaric tags for relative and absolute quantification (iTRAQ) technique. Gene ontology analyses, KEGG pathway and functional network analyses were performed. Proteins of interest with large differences in expression, S100-A8, alpha-1-acid glycoprotein 1, haptoglobin and apolipoprotein E, were compared by western blotting.ResultsThe disease/control ratios showed 26 proteins were significantly differentially expressed (all p ConclusionsThe complement and coagulation cascades, and abnormal lipid metabolism may be involved in the pathogenesis of LCPD.

Legg-Calvé-Perthes disease (LCPD) is a rare disease caused by avascular necrosis of the femoral head. Although its etiology is still not fully understood, evidence suggests that heritable prothrombotic and inflammatory factors, as well as environmental factors, may be implicated in its onset and progress. The objective of this study is to describe the genetic, biochemical, and environmental factors that may be associated with the etiology of LCPD. This study was conducted in three families and included seven related patients with an LCPD diagnosis. We evaluated the following gene alterations using real-time PCR: MTHFR, CBS, COL1A1, COL2A1, PT, FVL, FVIII, FIX, PAI-1, eNOS, IL-23R, TNF-α, RANNK, RANNK-L, OPG and IL-6. Additionally, we assessed fourteen thrombophilia-associated biochemical markers, as well as environmental factors that may be associated with the etiology of LCPD in family cases. The results show different hemostatic alterations in every individual analyzed, presenting out-of-range values in one or more parameters. Concentrations of hemoglobin and fibrinogen and the FIX activity percentage showed statistically significant differences (p MTFHR (rs1801133), IL-23R (rs1569922) and OPG (rs2073618) polymorphisms, as well as isolated cases with other genetic variants. Our results show environmental elements from every family, and hemostatic and inflammatory disorders, may be involved in the development of LCPD. Furthermore, genetic variants could contribute to the onset of the disease. This study highlights the multifactorial nature of this pathology, involving various environmental, genetic, inflammatory, and prothrombotic factors in three families that included seven patients diagnosed with LCPD.