Behind the Mystery of pHLH: A Rapidly Progressive and Fatal Disorder With a Median Survival of Less Than 2 Months
September 13, 2021
Primary HLH is a life-threatening disease that often goes undiagnosed due to nonspecific clinical signs and symptoms.
Primary hemophagocytic lymphohistiocytosis (pHLH) is a rare genetic disease characterized by a dysregulated hyperinflammatory response. Patients can experience irreversible multiorgan damage and dysfunction. Morbidity and mortality are high due to lack of detection and non-specific symptoms, but if diagnosed and appropriately treated, the inflammation and damage can be reversed.
We sit down with Carrie, mom of Camden, who was diagnosed at birth with pHLH, and Dr. Phillip Roehrs a pediatric oncologist from The University of Virginia. Dr. Roehrs discusses the cause, signs and symptoms, diagnostic criteria, and the ultimate goal for patients once diagnosed with this life-threatening disease.
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