Understanding Primary Haemophagocytic Lymphohistiocytosis: A Rare Immune Disorder
Primary Haemophagocytic Lymphohistiocytosis (HLH) is a severe genetic immune disorder characterized by an overactivation of immune cells, leading to widespread inflammation and tissue damage. Typically presenting in infancy or early childhood, the condition results from mutations that impair the immune system’s ability to regulate cell activity.
This leads to the rapid proliferation of lymphocytes and macrophages, which begin attacking healthy tissues. Symptoms often include persistent fever, enlargement of the liver and spleen, cytopenias, and neurological complications. Early diagnosis is critical, as HLH progresses quickly and can become life-threatening without intervention. Healthcare providers rely on clinical evaluation, genetic testing, and laboratory markers to identify the disorder. Treatment strategies focus on controlling immune activation using immunosuppressive therapy, corticosteroids, and biologics. Hematopoietic stem cell transplantation remains the only curative option for many patients.
Continued research into the underlying genetics of HLH is helping develop targeted therapies that may offer safer and more effective outcomes. Increased awareness and advancements in diagnostics have improved early detection, supporting better survival rates. Understanding HLH and recognizing symptoms promptly are essential steps toward improving patient care and long-term health outcomes.