Mednet Logo

Should testing for genetic causes of HLH be performed in all patients with MAS or secondary HLH regardless of the patient's age?

Community PollStarted

When do you test for genetic/familial HLH?

38 physicians have voted

Join Mednetto vote and see how they answered.

2 Answers
Mednet Member
Mednet MemberInvited Expert
Hematology · Harvard Medical School
Answered on

Familial HLH (fHLH) is a pediatric disease. Therefore, there is no place for genetic testing to establish a diagnosis of fHLH in adults, and treatment for HLH should not be delayed while waiting for genetic testing. However, there are hypomorphic polymorphisms in the fHLH genes that may be a contrib...

Join for free or sign in to see the full answer

Mednet Member
Mednet MemberInvited Expert
Rheumatology · Georgetown University
Answered on

I agree genetic HLH is a pediatric disease but one cannot await a genetic answer.

Join for free or sign in to see the full answer