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

Topics: Pediatric Oncology • Rheumatology • Hematology • Pediatric Hematology • Benign Hematology • HLH • Pediatric Rheumatology • Multispecialty Spotlight

Answer from: at Academic Institution

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...

Comments

at FibroFighters Foundation
How old is your patient? I ask because more and m...

Answer from: at Academic Institution

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

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