Objectives:
Multiple epiphyseal dysplasia (MED) and spondyloepiphyseal dysplasia (SED) are skeletal
dysplasias associated with premature osteoarthritis and short stature. Patients with SED
often have spinal and ocular problems. Few reports have focused on the health-related
quality of life (HRQoL) of patients with skeletal dysplasias associated with premature
osteoarthritis. The purpose of this study was to evaluate the HRQoL of adult patients
with MED and SED.
Methods:
Questionnaires covering demographics, medical history (cataract, retinal detachment,
and osteoarthritis), surgical history (osteotomy and arthroplasty), and the Short
Form-36 (SF-36) health survey were sent to all patients with MED and SED with medical
records at the investigators’ institutions. Among the 27 patients who completed the
questionnaire, patients aged 20 years or older were included in this cohort.
Results:
The subjects were 18 affected individuals. The physical component summary score (PCS)
was significantly lower in the MED and SED groups than in the normal population and
tended to deteriorate with age. Conversely, there was a positive correlation between the
mental component summary score and age. The role/social component summary score was not
correlated with age. MED patients with osteoarthritis had a low PCS. PCS was
particularly low in two SED patients with a medical history of cataract, whereas there
was no association with a history of retinal detachment or osteoarthritis.
Conclusions:
The physical domain of HRQoL in MED and SED patients significantly deteriorated at a
young age. Appropriate medical management of these skeletal dysplasias is required not
only for orthopedic functions but also for ocular problems.