Which lab tests are included in the workup of Alzheimer disease (AD) in Down syndrome (DS)?

Updated: Nov 13, 2019
  • Author: Norberto Alvarez, MD; Chief Editor: Jasvinder Chawla, MD, MBA  more...
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Answer

Answer

The workup for Alzheimer disease (AD) in patients with Down syndrome (DS) is no different from that recommended for patients with dementia who do not have DS. Excluding treatable forms of dementia is important.

Laboratory studies include the following:

  • Liver function tests

  • Renal function tests

  • Electrolytes

  • Blood glucose

  • Complete blood count (CBC)

  • Folic acid

  • Vitamin B-12

  • Possibly tests for syphilis and HIV (among patients without DS, these tests are not recommended as part of routine evaluation and should be ordered only when clinically indicated)

  • Thyroid-stimulating hormone (TSH) and thyroxine (T-4) levels (these are likely to be abnormal because of the high incidence of immune-dependent hypothyroidism in patients with DS) [78]

Although the APOE epsilon 4 allele is associated with an increased risk of AD, its use as a diagnostic tool in patients without DS is generally not recommended. At present, there is no role for this testing in patients with DS.


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