title: Bone density and fractures in autosomal dominant hyper IgE syndrome.
abstract: OBJECTIVE
  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.
authors.affiliation: Laboratories of Clinical Infectious Diseases, NIAID, NIH, Bethesda, MD, USA.
authors.forename: Kathryn J
authors.initials: KJ
authors.lastname: Sowerwine
authors.forename: Pamela A
authors.initials: PA
authors.lastname: Shaw
authors.forename: Wenjuan
authors.initials: W
authors.lastname: Gu
authors.forename: Jennifer C
authors.initials: JC
authors.lastname: Ling
authors.forename: Michael T
authors.initials: MT
authors.lastname: Collins
authors.forename: Dirk N
authors.initials: DN
authors.lastname: Darnell
authors.forename: Victoria L
authors.initials: VL
authors.lastname: Anderson
authors.forename: Joie
authors.initials: J
authors.lastname: Davis
authors.forename: Amy
authors.initials: A
authors.lastname: Hsu
authors.forename: Pamela
authors.initials: P
authors.lastname: Welch
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Puck
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.forename: Alexandra F
authors.initials: AF
authors.lastname: Freeman
mesh_terms: D015502:Absorptiometry, Photon; D000293:Adolescent; D000328:Adult; D015519:Bone Density; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D002648:Child; D005260:Female; D050723:Fractures, Bone / Q000209:etiology*; D006801:Humans; D007589:Job Syndrome / Q000150:complications* / Q000188:drug therapy / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D050796:STAT3 Transcription Factor / Q000172:deficiency*; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D050071:Bone Density Conservation Agents; D050796:STAT3 Transcription Factor