Thalidomide embryopathy: Follow-up of cases born between 1959 and 2010

Birth Defects Res A Clin Mol Teratol. 2015 Sep;103(9):794-803. doi: 10.1002/bdra.23376. Epub 2015 Jun 4.

Abstract

Background: Thalidomide is a known teratogen and it is estimated that more than ten thousand babies were affected by thalidomide embryopathy (TE), which is characterized mainly by limb defects, but can involve many organs and systems. Most people with TE were only evaluated at birth and it is not well established if thalidomide exposure during embryonic development leads to later effects. We analyzed the clinical history of adults with TE to better understand this gap in the clinical findings of TE.

Methods: Brazilian individuals with TE were invited to answer a clinical questionnaire which considered family history, social information, medical history, and current clinical and psychological health status. A clinical examination was also performed, including on the infant subjects to evaluate congenital anomalies. The characterization of the features was analyzed using descriptive statistics and Chi-square or Fisher's exact test.

Results: The congenital anomalies caused by thalidomide were reviewed in 28 Brazilian individuals, and the questionnaire was applied to the 23 adult subjects with TE (aged 19 to 55). Progressive deafness and dental loss were reported. From the comparison of TE individuals with the general Brazilian population, the early onset of cardiovascular diseases (p = 0.009) and a higher frequency of psychological disorders (p = 0.011) were observed.

Conclusion: Although there is no sufficient evidence that thalidomide exposure caused or worsened the described events, this approach helps to better understand the TE phenotype, improves the clinical diagnosis, and can lead to adequate health support for these individuals.

Keywords: embryopathy; late effects; limb reduction defects; teratogenesis; thalidomide.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Drug-Induced / physiopathology
  • Abnormalities, Multiple / chemically induced
  • Abnormalities, Multiple / physiopathology
  • Adolescent
  • Adult
  • Brazil
  • Child, Preschool
  • Female
  • Fetal Diseases / chemically induced*
  • Fetal Diseases / physiopathology*
  • Follow-Up Studies
  • Health Status
  • Humans
  • Limb Deformities, Congenital / chemically induced
  • Limb Deformities, Congenital / physiopathology
  • Male
  • Middle Aged
  • Phenotype
  • Thalidomide / adverse effects*
  • Young Adult

Substances

  • Thalidomide