Should testing for genetic causes of HLH be performed in all patients with MAS or secondary HLH regardless of the patient's age?
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When do you test for genetic/familial HLH?
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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 contrib...
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Mednet MemberInvited Expert
Rheumatology · Georgetown University
Answered on
I agree genetic HLH is a pediatric disease but one cannot await a genetic answer.
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