Pain, physical and social functioning, and quality of life in individuals with multiple hereditary exostoses in The Netherlands: a national cohort study.
BACKGROUND
This study aimed to assess pain and quality of life in a large cohort of patients with multiple hereditary exostoses.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Department of Orthopedic Surgery,Onze Lieve Vrouwe Gasthuis, P.O. Box 95500, 1090 HM Amsterdam, The Netherlands. annemariegoud@hotmail.com
A L
AL
Goud
J
J
de Lange
V A B
VA
Scholtes
S K
SK
Bulstra
S J
SJ
Ham
D000203:Activities of Daily Living; D000223:Adaptation, Psychological; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D015331:Cohort Studies; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis* / Q000523:psychology* / Q000628:therapy; D005260:Female; D006801:Humans; D007398:Interpersonal Relations; D008297:Male; D008875:Middle Aged; D009043:Motor Activity / Q000502:physiology*; D009426:Netherlands; D010148:Intractable Pain / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D011788:Quality of Life; D018570:Risk Assessment; D012737:Sex Factors; D018434:Sickness Impact Profile; D013315:Stress, Psychological; D011795:Surveys and Questionnaires; D055815:Young Adult