Bone Density and Fractures in Autosomal Dominant Hyper IgE Syndrome

作者：Sowerwine Kathryn J; Shaw Pamela A; Gu Wenjuan; Ling Jennifer C; Collins Michael T; Darnell Dirk N; Anderson Victoria L; Davis Joie; Hsu Amy; Welch Pamela; Puck Jennifer M; Holland Steven M; Freeman Alexandra F^*

来源：Journal of Clinical Immunology, 2014, 34(2): 260-264.

DOI：10.1007/s10875-013-9982-2

• Autosomal dominant hyper IgE syndrome (AD-HIES)
• job's syndrome
• signal transducer and activator of transcription 3 (STAT3)
• osteoporosis
• retained primary teeth

Purpose Autosomal Dominant Hyper IgE Recurrent Infection Syndrome (AD-HIES) is caused by mutations in STAT3 and characterized by eczema, recurrent bacterial infections, and skeletal and connective tissue abnormalities. To further understand the minimal trauma fractures of AD-HIES, we examined bone mineral density (BMD) and laboratory markers of bone turnover.
Methods Patients with AD-HIES enrolled in a prospective natural history study were examined with dual x-ray absorptiometry (DEXA) scans and laboratory studies of bone metabolism. The number of fractures was recorded as well as clinical features of AD-HIES including scoliosis and retained primary teeth. Patients on medications with skeletal effects, including bisphosphonates, were examined separately.
Results Twenty-three AD-HIES children (6-18 years) and 33 AD-HIES adults (21-50 years) not receiving bone-active drugs were studied. Fourteen of the 23 children (61 %) had histories of minimal trauma fractures, as did 26 of the 33 adults (79 %). Osteopenia or osteoporosis was found in 79% of children and adults. Only radial BMD correlated with the qualitative occurrence of fractures but it did not correlate with the numbers of fractures. Markers of bone metabolism did not correlate with minimal trauma fractures or BMD. Patients on bone-active medications had improved BMD, but still sustained fractures.
Conclusions Minimal trauma fractures and decreased BMD are common in AD-HIES. Low radial BMD is associated with fractures, but hip and spine BMD are not. Treatment with bisphosphonates increased BMD but its role in fracture prevention remains undefined.

• 出版日期2014-2
• 单位NIH