The role of coagulation abnormalities in the development of Perthes' disease

Abstract

Recent reports have suggested an association between Perthes' disease and an underlying thrombophilic or hypofibrinolytic tendency. In Northern Ireland there is a high incidence of Perthes' disease (11.7 per 100,000 or 1 in 607 children) in a stable paediatric population. We reviewed 139 children with Perthes' disease and compared them with a control group of 220 aged- and gender-matched healthy primary schoolchildren with similar racial and ethnic backgrounds. There were no significant deficiencies of antithrombotic factors protein C, protein S, antithrombin III or resistance to activated protein C. A total of 53 (38.1%) of the children with Perthes' disease had a prolonged activated partial thromboplastin time (>38) compared with 13 (5.9%) of the control group (p < 0.001). Our findings have shown that using standard assays, thrombophilia secondary to antithrombotic factor deficiency or resistance to activated protein does not appear to be an aetiological factor for Perthes' disease. The cause of the prolonged activated partial thromboplastin time, usually associated with a clotting factor deficiency, is under further investigation.

The most severe forms of Perthes’ disease associated with the homozygous Factor V Leiden mutation

“…7 Our results, in agreement with the reports of others, do not support the hypothesis that there is a primary role for inherited thrombophilia in the pathogenesis of Perthes' disease. [17][18][19][20] We did, however, detect four patients who were homozygous mutants among our five with Activated Protein C-resistance due to Factor V Leiden mutations. In these four patients the disease ran an extremely severe course.…”

“…Further investigations in Europe, including the most extensive study, did not agree with Glueck et al 7 concerning the role of thrombophilia. [18][19][20] In our study, 47 patients were investigated in order to determine the role of thrombogenic factors in the evolution of Perthes' disease. The haemostatic parameters did not differ significantly from those in the control group, except for a slightly decreased plasminogen level, which we did not think could play a significant role in the disease.…”

Clinical and genetic characteristics of Legg-Calve-Perthes disease

“…[22] While some studies have found an increased rate of abnormalities of coagulation in the patients with LCPD, [21,22,56,59,60] others have not found any association at all. [61][62][63][64] The discrepancy might be due to some confounding factors, including a small sample size in some studies, the retrospective study design, use of suboptimal controls, and non-standardized range of laboratory values for coagulation factor level. As far as prospective studies are concerned, a random series of 50 consecutive LCPD patients did not show a difference in the prevalence of antithrombin III, protein-S, or protein-C deficiencies between the group of LCPD patients and the estimated frequency of disease in the population.…”

Association of MTHFR rs1801133 and homocysteine with Legg–Calvé–Perthes disease in Mexican patients

“…Thrombophilia is one of the most widely accepted since the tendency to develop states of hypercoagulability could lead to the Open Access *Correspondence: edgarhz1969@yahoo.com.mx; elbareyesm@gmail.com † José Guillermo Buendía Pazarán, Edgar Hernández Zamora and Armando O. Rodríguez-Olivas have contributed equally to this work 1 Morphology Department, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional (ENCB, IPN), Prolongación de Carpio y Plan de Ayala s/n, Col. Santo Tomás, Miguel Hidalgo, C.P. 11340 Mexico City, Mexico 2 Genomic Medicine, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra" (INR-LGII), Mexico City, Mexico development of necrosis [4][5][6]. On the other hand, described collagen gene alterations could also be related to the etiology of the disease [7].…”