Síndrome de activación macrofágica como desenlace de enfermedades reumatológicas: reporte de 4 casos / Macrophage activation syndrome as a result of rheumatological diseases: Report of 4 cases

RESUMEN El síndrome de activación macrofágica (SAM) es una grave complicación de varias entidades reumáticas entre las que se encuentran la artritis idiopática juvenil sistémica, enfermedad de Still y lupus eritematoso sistémico. Este síndrome forma parte de las linfohistiocitosis hemofagocíticas adquiridas y constituye una enfermedad potencialmente mortal, con difi cultad en su identificación y carencia de consensos en cuanto a su manejo. Describimos una serie de casos de pacientes con SAM, exponiendo su proceso diagnóstico, su relación con las enfermedades reumáticas de base, su seguimiento y tratamiento, así como los resultados de diferentes esquemas de manejo.

ABSTRACT Macrophage activation syndrome (MAS) is a serious complication of several rheumatic disor ders, among which are the systemic juvenile idiopathic arthritis, Still's disease and systemic lupus erythematosus. This syndrome is part of the Acquired Haemophagocytic Lymphohistiocytoses, and is a potentially fatal disease, with difficulty in its identification and a lack of consensus regarding its management. A series of cases are describe of patients with macrophage activation syndrome, explaining their diagnostic process, their relationship with rheumatic diseases, their monitoring, and treatment, as well as the results of different management schemes.

Secondary hemophagocytic lymphohistiocytosis: a rare case report

Haemophagocytic lymphohistiocytosis (HLH) is a clinicopathologic syndrome, characterised by hyperinflammation due to inherited or acquired defects in the immune function, leading to unchecked proliferation of histiocytes and lymphocytes resulting in multiorgan dysfunction. HLH can be primary (familial) occurring in young children caused by underlying genetic defects in natural killer cells/cytotoxic T cells or secondary HLH occurring in older children or adults following infections, rheumatological disorders or malignancies.  HLH is a medical emergency, having varied clinical presentations and lacks a pathognomonic clinical or laboratory abnormality. Clinical presentations include unexplained fever, hepatomegaly, splenomegaly, skin rash, cytopenias, liver dysfunction, coagulation abnormality and neurological manifestations. It carries a poor prognosis. Early diagnosis based on HLH 2004 criteria and initiation of treatment is crucial in the management strategy, which is likely to improve the outcome of this life-threatening disease. The treatment strategies include immunosuppressive drugs, immunomodulatory therapy and autologous hematopoietic stem cell transplant in selected cases. Here with authors report a case of young adult, presenting with fever, thrombocytopenia, splenomegaly, and multi organ dysfunction, diagnosed as a case of secondary HLH based on the HLH 2004 guidelines.

Clinical features and gene mutation analysis of 4 Chinese children with X-linked lymphoproliferative disease / 中华实用儿科临床杂志

Objective To summarize clinical,gene mutation and their families of 4 Chinese children with X-linked lymphoproliferative (XLP) disease.Methods The clinical records and 6 genes of immunodeficiency associated with Epstein-Barr(EBV) infection were summarized and the literatures were reviewed.Results The four cases were all boys younger than 3 years old,who had onset with fever.They were all treated with ganciclovir,plasma,intravenous immunoglobulin and methylprednisolone after hospitalization,but 3 cases had the features of fulminant or fatal infectious mononucleosis (FIM),whose progression of disease was getting worse and died of second hemophagocytic lymphohistiocytosis (HLH) in the end.The survival time after onset was about 20 days.One boy had the complications of HLH associated with EBV infection and drug-induced hypersensitivity syndrome,who was improved and discharged from hospital.Two cases had adverse family history in which brothers or cousins died at younger ages.EBV-CAIgM and EBV-DNA of the 4 cases were all positive,with the copy of EBV DNA ＞ 108 copies/L.The results of the 6 genes of immunodeficiency associated with EBV infection of the 4 boys showed SH2D1A mutation.Mothers of 3 cases separately had the same SH2D1A mutation as her boy,while 1 mother refused to have the genes detected.Conclusions Patients who had the XLP were all male.Infants and young children under 5 years old usually had the features of FIM,with the complication of EBV associated HLH.Patients with XLP showed SH2D1A mutation.For male patients with FIM,especially those under 5 years,it is important to perform genetic detection early and to receive therapy as early as possible.