Multicenter investigation of lifestyle‐related diseases and visceral disorders in thalidomide embryopathy at around 50 years of age

BACKGROUND: In utero exposure to thalidomide causes a wide range of birth defects, including phocomelia, hearing loss and visceral disorders, known as thalidomide embryopathy (TE). Fifty years after the first report of TE, we conducted the first cross‐sectional multicenter study to investigate the development of lifestyle‐related diseases and identify risk factors for visceral disorders in subjects with TE. METHODS: Seventy‐six cases with TE (31 men, 45 women) underwent medical examinations between 2011 and 2014 to determine the types of TE‐related anomalies (limbs, auditory organs, or visceral organs) and lifestyle‐related diseases present. Logistic multiple regression analyses, adjusted for gender and age, were conducted between TE and lifestyle‐related diseases and to evaluate association between block vertebra and gallbladder aplasia. RESULTS: Fatty liver (FL), nonalcoholic FL disease and dyslipidemia were detected in 52.6%, 35.0%, and 23.7% of subjects, respectively, with higher incidences among men. Dyslipidemia was detected in 40.0% of subjects with FL and was significantly associated with FL (odds ratio = 8.86; p = 0.008). Block vertebrae were detected in 44.4% of subjects with gallbladder aplasia, and this association was significant (odds ratio = 9.96; p = 0.006). CONCLUSION: Subjects with TE have also a risk for lifestyle‐related disease as well as the general Japanese population. In addition, cervical spine radiography and magnetic resonance imaging are recommended to assess block vertebrae in subjects with TE with gallbladder aplasia who develop shoulder pain. Birth Defects Research (Part A) 103:787–793, 2015. © 2015 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc.