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성인 혈구탐식성림프조직구증식증의 이해, 진단 및 치료

Hemophagocytic Lymphohistiocytosis in Adults – Overview, Diagnosis, and Treatment

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대한내과학회 (The Korean Association Of Internal Medicine)|2015.05|대한내과학회지 (The Korean Journal of Medicine)|제88권 제5호|pp. 525-534|DOI http://dx.doi.org/10.3904/kjm.2015.88.5.525

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Hemophagocytic lymphohistiocytosisHemophagocytic syndrome혈구탐식성림프조직구증식증혈구탐식증
주제분류내과학

초록

혈구탐식성림프조직구증식증(hemophagocytic lymphohistiocytosis,HLH)은 조직구증식증후군(histiocytosis syndrome)에 속하는 질환군[1]으로 고열과 범혈구감소증을 주소로 발병하여 간/비장 등의 장기종대, 간 기능 부전 등 전신을 침범하는 염증반응을 보이는 질환이다. 많은 경우 승압제에 반응하지 않는 혈압 저하를 동반하므로 패혈증을 동반한 감염이라고 판단하여 광범위 항균제를 투여하는 등의 치료가 시행되는 경우가 많으나 이러한 노력에도 임상적인 호전이 없이 심각한 장기 부전으로 진행하기도 하며 이러한 상태에서 뒤늦게 진단되기도 한다.HLH는 과거 주로 소아에서 발병한다고 알려졌으며 발생률은 연간 80만 명당 1명꼴로 국내에서는 연간 62.5명이 발생한다. 성인의 발생률은 정확히 알려지지 않았으나 과거 고열을 동반한 다발성 장기부전 양상을 보인 원인 불명의 중증 환자들 중 상당수가 HLH에 해당하는 것으로 생각되고있다[2].

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome involving defective apoptosis in which the pathways regulating the termination of immune and inflammatory responses are disrupted. Fever, cytopenia, splenomegaly, and hemophagocytosis are typical findings of this syndrome. HLH can be induced by genetic disorders (familial) or secondary causes. While familial HLH is rare, secondary causes include infection, autoimmune disease, and malignancy in adults. Adult onset HLH may be confused with or misdiagnosed as sepsis or macrophage activation syndrome due to similar clinical manifestations and laboratory findings. Consequently, it is difficult to diagnose HLH promptly to initiate adequate immunosuppressive treatment or chemotherapy. A pediatric HLH treatment protocol such as HLH-2004 or multi-agent chemotherapy can be given to adults after adjusting the drug dosage and type. After the initial treatment, refractory or reactivated patients should undergo allogenic hematopoietic stem cell transplantation as soon as possible to improve survival. Clinical trials should determine more suitable therapeutic options for adults with HLH.

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