Pain, Physical and Social Functioning, and Quality of Life in Individuals with Multiple Hereditary Exostoses in the Netherlands
ABSTRACT This study aimed to assess pain and quality of life in a large cohort of patients with multiple hereditary exostoses.
All 322 known patients with multiple hereditary exostoses in The Netherlands were asked to participate. An age-specific questionnaire was sent to children (less than eighteen years old) and adults. The questionnaire focused on pain, daily activities, and school and/or professional situation. Adults also filled out the RAND-36 questionnaire. Results were statistically analyzed with use of the SPSS 15.0 software and with the chi-square test and multiple logistic regression. A p value of <0.05 was regarded as significant.
Two hundred and eighty-three patients (88%), including 184 adults (65%) and ninety-nine children (35%), completed the questionnaire. Multiple hereditary exostoses resulted in various physical and social consequences. The majority of adults (119) were employed; however, thirty-three (28%) had changed jobs because of the symptoms of multiple hereditary exostoses and twenty-five (21%) required adjustments in their working environment. Of the sixty-five adults who were not employed, thirteen were medically unfit to work. Of eighty-five children attending school, forty-five (53%) experienced problems at school. The symptoms of multiple hereditary exostoses caused twenty-seven children (27%) and eighty-five adults (46%) to stop participating in sporting activities. Pain was the greatest problem, with sixty-two children (63%) and 152 adults (83%) who reported recent pain. On multivariate analysis, pain in adults was correlated most significantly with age and problems at work, and pain in children was correlated with the perception of the disease and problems at school. Adult patients with multiple hereditary exostoses had a lower quality of life than the Dutch reference groups, with lower scores on six of eight RAND-36 subscales.
Our study confirms that multiple hereditary exostoses is a chronic disease causing a profound impact on quality of life. The results suggest that pain is not the only problem associated with multiple hereditary exostoses, as it has an extensive influence on daily activities, as well as on social and psychological well-being, causing significant disability.
Article: [Hereditary multiple exostoses.][Show abstract] [Hide abstract]
ABSTRACT: Hereditary multiple exostosis (HME) is a hereditary autosomal dominant disease in which multiple exostoses occur. Typically, the exostoses are primarily located at the metaphysis and migrate with continued growth towards the diaphysis. Clinical problems are caused by local pain, impingement of muscle tendons and neurovascular structures, malformation - especially in the forearm - and malignant transformation - especially exostoses at the trunc and pelvic girdle.Der Orthopäde 08/2014; DOI:10.1007/s00132-013-2224-8 · 0.67 Impact Factor
[Show abstract] [Hide abstract]
ABSTRACT: Elevated non-fasting triglyceride-rich lipoprotein (TRL) levels are a risk factor for cardiovascular disease (CVD). To further evaluate the relevance of LDL-receptor (LDLr) pathway and heparan sulfate proteoglycans (HSPGs) in triglyceride (TG) homeostasis we analysed fasting and postprandial TG levels in mice bearing combined heterozygous mutations in both Ext1 and Ldlr, in subjects with hereditary exostosis (HME) due to a heterozygous loss-of-function (LOF) mutation in EXT1 or EXT2 (N=13), and in patients with heterozygous mutations in LDLR (FH)) and SNPs in major HSPG-related genes (n=22). Mice bearing a homozygous mutation in hepatic Ext1 exhibited elevated plasma TGs similar to mice lacking other key enzymes involved in HSPG assembly. Compound heterozygous mice lacking Ldlr and Ext1 showed synergy on plasma TG accumulation and postprandial clearance. In human subjects, a trend was observed in HME patients towards reduced postprandial TG clearance with a concomitant reduction in chylomicron clearance (AUC-RE HME: 844 +/- 127 vs Controls: 646 +/- 119 nM/h, p=0.09). Moreover, in FH subjects with a high HSPG gene score, RP excursions were higher (AUC-RE 2377 +/- 293 vs 1565 +/- 181 nM/h, P<0.05). iAUC-apoB48 was similar between the groups. In conclusion the data are at best supportive for a minor yet additive role of HSPG in human postprandial TG clearance and further studies are warranted. Copyright © 2015, The American Society for Biochemistry and Molecular Biology.The Journal of Lipid Research 01/2015; DOI:10.1194/jlr.M053504 · 4.73 Impact Factor
[Show abstract] [Hide abstract]
ABSTRACT: Coxa valga is a common clinical feature of hereditary multiple exostoses (HME). The current study aimed to determine the unique developmental pattern of the hip in patients with HME and evaluate the factors that influence its progression. Thirty patients (57 hips) with HME were divided into two groups according to the Hilgenreiner epiphyseal angle (HEA). Twenty-two patients (44 hips) including 13 men and 9 women were assigned to group 1 (HEA <25°), and 8 patients (13 hips) including 3 men and 5 women were assigned to group 2 (HEA ≥25°). The mean age at the initial presentation was 6.0 (4-12) years with 6.8 (4-11) years of follow-up in group 1, and 10.4 (8-13) years with 5.4 (2-9) years of follow-up in group 2. We measured the HEA, neck-shaft angle (NSA), acetabular index (AI), center-edge angle (CEA), and migration percentage (MP) for radiographic evaluation. Among the hips, 50 (87.7%) hips had coxa valga and 27 (47.4%) hips had abnormal MP (42.1% were borderline and 5.3% were subluxated). There was a significant difference in the HEA and NSA between the groups (p < 0.001 and p < 0.05, respectively). The HEA significantly correlated with the development of the NSA and no correlation was found between the HEA and AI, CEA, and MP. There was a significant relationship between the HEA at the initial presentation and the NSA at skeletal maturity. We should consider guided growth for patients with lower HEA to prevent significant coxa valga deformity with close follow-up.BMC Musculoskeletal Disorders 12/2015; 16(1):514. DOI:10.1186/s12891-015-0514-5 · 1.90 Impact Factor