title: The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status, and pain.
abstract: OBJECTIVE
  The aim of the study was to evaluate quality of life (QOL), global health status, pain, and level of satisfaction in patients with hereditary multiple exostoses (HME), and to correlate the association between the severity of diseases and age, sex, number of surgical procedures, and number of exostoses.
  
  
  METHODS
  The data of 50 patients with HME were retrospectively evaluated and recorded. QOL was evaluated with the Short-Form Health Survey (SF-12) questionnaire, the 12-Item General Health Questionnaire (GHQ-12), and Quality of Life Enjoyment and Satisfaction Questionnaire (Q-LES-Q-SF); intensity of pain was measured using the visual analogue scale (VAS). The association of age, gender, pain, quality of life, number of exostoses, and number of surgical procedures were evaluated and correlated.
  
  
  RESULTS
  Mean number of exostoses in our patient's cohort resulted 18.12 ± 8.60, and every patient underwent to a mean of 5.62 ± 5.74 surgical procedures for the exostoses. Mean VAS resulted 5.16 ± 2.90. Considering SF-12, mental (MCS) and physical (PCS) component resulted, respectively, 45.36 ± 10.76 and 38.73 ± 11.09, while GHQ-12 and Q-LES-Q-SF were 15.48 ± 4.70 and 45.28 ± 9.55, respectively. We found a significant positive correlation between the number of exostoses and the number of surgical procedures (p < 0.001), a significant positive correlation between the number of surgical procedures and GHQ-12 (p = 0.422) and VAS (p = 0.0011), and a negative correlation between the number of surgical procedures and PCS (p = 0.0257) and between age and GHQ-12 (p = 0.0385).
  
  
  CONCLUSIONS
  We can conclude that HME impact on patient quality of life as measured by the MCS and PCS scores similar to the disability associated with osteoarthritis in the mental component and tumors or diabetes as regards the physical component. Moreover, we found no difference in patients' quality of life as regards number of exostoses, age, and surgical procedure, but we found that women have a worse response as regards the psychological side than men.
authors.affiliation: Università degli Studi di Milano, Milan, Italy. riccardo.dambrosi@hotmail.it.|Centro Traumatologico Ortopedico, Unità Operativa Clinica Ortopedica e Traumatologica, Milan, Italy. riccardo.dambrosi@hotmail.it.
authors.forename: Riccardo
authors.identifier: http://orcid.org/0000-0002-1216-792X
authors.initials: R
authors.lastname: D'Ambrosi
authors.affiliation: IRCCS Policlinico San Donato, San Donato Milanese, Italy.
authors.forename: Vincenza
authors.initials: V
authors.lastname: Ragone
authors.affiliation: Centro Traumatologico Ortopedico, Unità Operativa Clinica Ortopedica e Traumatologica, Milan, Italy.
authors.forename: Camilla
authors.initials: C
authors.lastname: Caldarini
authors.affiliation: Department of Radiology, Second University of Naples, Naples, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Serra
authors.affiliation: IRCCS Istituto Ortopedico Galeazzi, Milan, Italy.
authors.forename: Federico Giuseppe
authors.initials: FG
authors.lastname: Usuelli
authors.affiliation: Centro Traumatologico Ortopedico, Unità Operativa Clinica Ortopedica e Traumatologica, Milan, Italy.
authors.forename: Renato Mario
authors.initials: RM
authors.lastname: Facchini
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005097:Exostoses, Multiple Hereditary / Q000453:epidemiology / Q000235:genetics* / Q000523:psychology; D005260:Female; D014943:Global Health; D006304:Health Status; D006306:Health Surveys; D006801:Humans; D008297:Male; D008875:Middle Aged; D010146:Pain / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D010147:Pain Measurement; D010549:Personal Satisfaction; D011788:Quality of Life; D012189:Retrospective Studies; D011795:Surveys and Questionnaires; D064232:Visual Analog Scale; D055815:Young Adult
keywords: Global health status; Hereditary multiple exostoses; Pain; Quality of life; Rare disease; Satisfaction; Surgical procedure