Humans ; Lymphohistiocytosis, Hemophagocytic ; diagnosis ; therapy

Hemophagocytic lymphohistiocytosis (HLH), or hemophagocytic syndrome (HPS), is characterized clinically by abrupt onset and progressive deterioration and even death. HLH is much more prevalent in children, and is potentially fatal if early diagnosis is not made and appropriate HLH-directed therapy not instituted. Increasing genetic defects and underlying diseases or causative factors have been identified to be closely implicated in the pathogenesis of HLH. In addition, great advances have been made in the past few years in terms of HLH diagnosis and clinical management. In the present review, the cause of disease, contemporary classification, epidemiology, genetic defects and molecular mechanisms, updated diagnostic criteria and novel treatment strategies for childhood HLH are summarized.
Child ; Humans ; Lymphohistiocytosis, Hemophagocytic ; diagnosis ; pathology ; therapy

OBJECTIVETo introduce the clinical manifestations and laboratory tests of adult onset of primary hemophagocytic syndrome (HPS), and to investigate the essentials of diagnosis and the genotype characteristics in adult onset patient.

METHODSThe definite diagnosis of HPS was made according to HLH-2004. Exons of PRF1, STX11, UNC13D, SH2D1A and RAB27A genes coding region were amplified using polymerase chain reaction.

RESULTSA 48-year-old man was admitted to our hospital because of recurrent fever, pancytopenia and lymph node enlargement. His laboratory test revealed bone marrow hemophagocytosis, elevated ferritin level (2000 µg/L), reduced level of NK cell activity (20.13%) and elevated soluble CD25 level (12277 U/ml). Based on the HLH-2004 diagnostic criteria, the patient was diagnosed as HPS. The patient had viral infection, and no other primary disease was identified that would cause HPS. The patient responded poorly to anti-viral therapy. DNA sequencing was used to confirm that perforin gene mutations might be one of the causes of the patient suffered from primary HPS.

CONCLUSIONSAlthough primary HPS usually affects infants and young children, it also occurred in teens and adults. It is essential to perform genetic screenings to patient whose illnesses recur with unknown causes. In addition, detection of molecular genetic alterations can be used to distinguish primary HPS from acquired HPS.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome characterized by pancytopenia and multiple organ infiltrations of lymphocytes and histiocytes with proliferation and hemohpagocytic activity. HLH is classified as primary (or familial) and secondary. Familial HLH is common in infants and young children, and is related to genetic defects. This article aims to review research advances on PRF1, UNC13D, STX11 and STXBP2, as well as the other 5 genes associated with familial HLH based on molecular genetics, and to summarize diagnosis and treatment methods for this disease.
Humans ; Lymphohistiocytosis, Hemophagocytic ; diagnosis ; etiology ; genetics ; therapy ; Molecular Biology

Humans ; Interferon-gamma ; analysis ; Lymphohistiocytosis, Hemophagocytic ; diagnosis ; microbiology

Child, Preschool ; Humans ; Lymphohistiocytosis, Hemophagocytic ; diagnosis ; genetics ; therapy ; Male

Adult ; HIV Infections ; complications ; diagnosis ; Humans ; Lymphohistiocytosis, Hemophagocytic ; diagnosis ; etiology ; Male

Influenza infection may be complicated by various infectious or non-infectious diseases. Among them, hemophagocytic lympho-histiocytosis (HLH) is an uncommon hyperinflammatory syndrome caused by uncontrolled proliferation and activation of macrophages and lymphocytes, and it is often life threatening. A previously healthy male patient was suspected to have HLH after influenza B infection. The diagnosis was established based on clinical diagnostic criteria suggested in the HLH-2004 trial. Despite prompt antiviral therapy, the patient expired on day 19 of hospitalization. Influenza can thus be complicated by HLH. Due to the non-specific manifestations of HLH, clinical suspicion and early diagnosis are important.
Diagnosis ; Early Diagnosis ; Hospitalization ; Humans ; Influenza, Human* ; Lymphocytes ; Lymphohistiocytosis, Hemophagocytic* ; Macrophages ; Male

Bone Marrow ; pathology ; Humans ; Liver Transplantation ; adverse effects ; Lymphohistiocytosis, Hemophagocytic ; diagnosis ; Male ; Middle Aged ; Pancytopenia ; diagnosis

Adult ; Ferritins ; blood ; Humans ; Leukocytes ; metabolism ; Lymphohistiocytosis, Hemophagocytic ; blood ; diagnosis ; Male ; Panniculitis ; blood ; diagnosis ; Triglycerides ; blood