• Skip to primary navigation
  • Skip to main content
  • Skip to footer
Invitae | Genelex

Invitae | Genelex

Pharmacogenetics Makes Precision Medicine Possible

  • For Patients
    • Conditions
    • Affected Drugs
    • What is PGx?
    • Resources
    • FAQs
  • For Providers
    • Conditions
    • Resources
    • Order Testing Supplies
  • Test Menu
  • Clinical Trials
  • About
    • Lab Accreditations
    • Genelex Team
    • Contact Us
  • Log In

Case Report: Severe neurological problems tied to HIV treatment

Home / News / Case Report: Severe neurological problems tied to HIV treatment

Genelex Blog

Case Report: Severe neurological problems tied to HIV treatment

HIV

The mental deterioration of a 33-year-old man with HIV began with vivid dreams just weeks after he began a standard course of HIV treatment.

The treatment was a combination of the medications efavirenz, tenofovir and emtricitabine (Atripla). This course seemed successful, with the man’s HIV viral load decreasing to non-detectable levels within a few weeks. HIV treatment continued.

Then the vivid dreams and flushes began. He was not taking any other medications, nor had any history of psychiatric conditions. Months went by without the man reporting any issues.

About 10 months later, more noticeable psychiatric and neurological symptoms began to arise. The man’s partner reported noticing memory loss, paranoia, verbal aggression, confusion and panic attacks – all of which were unusual for a patient with no psychiatric history. Physically, the man became uncoordinated and showed impaired ability to perform rapid, alternate movements (known as dysdiadochokinesis).

These symptoms lead to a battery of tests (including a CT scan and lumbar puncture) that failed to find a likely cause. A full year after he began HIV treatment, the 33-year-old was admitted to a psychiatric clinic due to his worsening mental condition.

The man’s efavirenz blood levels were checked, which revealed the problem: the 33-year-old had 40 times the normal dose of efavirenz in his body. Efavirenz is known to cause severe psychiatric symptoms in high doses, accounting for what the man experienced.

Efavirenz treatment was stopped until blood levels of the drug returned to normal (about 10 weeks). Within this period, all psychiatric symptoms stopped, and the man was put on an efavirenz alternative.

What Happened Here?

Genotype testing revealed the man to be a poor metabolizer for the CYP2B6 enzyme, which is responsible for processing efavirenz. This likely caused efavirenz to build up in the man’s body, leading to the symptoms described.

The case report authors write that neuropsychiatric symptoms connected to efavirenz treatment are not new. This report, however, describes two novel findings: a previously undiscovered variant of CYP2B6 that resulted in severely limited metabolism (*38) and the development of uneven and abnormal pupils linked to efavirenz toxicity.

This case illustrates how important a full understanding of a patient’s genetics can be before prescribing medications metabolized by highly genetically variable enzymes.

Find the entire case report here.

Genelex Resources

Affected Conditions
Affected Drugs
Info for Providers
Frequently Asked Questions
Contact Genelex
Join Our Mailing List

Footer

CONTACT US

(800) 837-8362
info@genelex.com

3101 Western Ave.
Suite 100
Seattle, WA 98121

HELPFUL INFORMATION

What is PGx?
Test Menu
Conditions
Affected Drugs
FAQs
References

ABOUT GENELEX

Blog
News
Genelex Team
Lab Accreditations
Contact Us
Privacy Practices
Privacy Policy

  • Facebook
  • LinkedIn
  • RSS
  • Twitter
  • YouTube

KEEP IN TOUCH

Stay in the loop with news and updates from Genelex and be among the first to know when new tests become available.