Should testing for genetic causes of HLH be performed in all patients with MAS or secondary HLH regardless of the patient's age?
2 Answers
Mednet Member
Hematology · Harvard Medical School
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...