New: NCI-funded clinical trial search
Mednet Logo
CommunityPediatric Hematology/Oncology

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 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 contributing factor for the development of HLH in the presence of other triggers. In patients in whom one is contemplating a stem cell transplant, genetic testing is useful to look for those hypomorphic alle...

Join for free or sign in to see the full answer

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